Indian Journal Of Clinical Biochemistry[JOURNAL]
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200 papers
Computational Analysis of Differentially Expressed Circulating MicroRNA and Identification of Key Genes in Prostate Cancer.
Manoj A, Kumari S, Prasad G … +1 more , Ahmad MK
Indian J Clin Biochem · 2026 Apr · PMID 41834935 · Full text
Bioinformatics is considered a powerful tool to investigate and deeply analyze large datasets. A significant quantity of data is generated by prostate cancer and dysregulation of microRNA (miRNA) in tissues and bodily fl...
Bioinformatics is considered a powerful tool to investigate and deeply analyze large datasets. A significant quantity of data is generated by prostate cancer and dysregulation of microRNA (miRNA) in tissues and bodily fluids (serum, plasma, urine). Screening dysregulated miRNA is currently more accessible, more reliable, and more precise with the help of insilico approaches. Hence the objective of the study is to identify miRNAs and explore their mRNA interaction in prostate cancer development. Here in the present study, we analyzed the GEO dataset GSE112264 and performed GEO-2R analysis to segregate significantly upregulated and downregulated miRNAs. The targetome of each miRNA containing several target genes was analyzed and put in an interactive network form. Functional enrichment analysis using DAVID 6.8 and GSEA was carried out to get KEGG, Reactome, and GO-BP analysis. Our analysis revealed that out of 190 overlapped significant miRNAs, only 9 miRNAs (hsa-miRNA-185-5p, hsa-miRNA-211-5p, hsa-miRNA-330-3p, hsa-miRNA-342-3p, hsa-miRNA-3622b-5p, hsa-miRNA-486-5p, hsa-miRNA-520a-3p, hsa-miRNA-550a-3p, hsa-miRNA-574-3p) were found to target 20 unique target genes (AKT1, EP300, E2F1, KRAS, AR, CREB5, CCND1, CDKNA1, EGFR, ERBB2, FGFR1, FOXO1, IKBKG, IGF1R, MAPK1, PTEN, PIK3R1, and TP53) that were involved in Prostate cancer survival and proliferation. Out of 9 miRNAs, two miRNAs (miRNA-520a-3p and miRNA-550a-3p) are novel miRNAs that have yet to be explored in Prostate cancer pathogenesis. To conclude and for future research, 8 miRNAs are yet to be explored for non-invasive potential as diagnostic and prognostic biomarkers in Prostate cancer progression and development. The target genes of each miRNA could provide novel insights in developing therapeutics for better management of disease.
Association of rs12826786 and rs1899663, Long Non-coding RNA Polymorphic Variants, with Susceptibility to Rheumatoid Arthritis Disease.
Sadeghi Z, Mokhtari MJ
Indian J Clin Biochem · 2026 Apr · PMID 41834934 · Full text
The most prevalent inflammatory arthropathy in the world is rheumatoid arthritis (RA). An essential part of the pathogenesis of RA involves autoimmune responses. Variants in lncRNAs may have an impact on the course and/o...
The most prevalent inflammatory arthropathy in the world is rheumatoid arthritis (RA). An essential part of the pathogenesis of RA involves autoimmune responses. Variants in lncRNAs may have an impact on the course and/or result of a disease and may have diagnostic or prognostic significance. Our study looked into the connection of rs12826786 and rs1899663 polymorphisms of transcript with genetic susceptibility to RA. The study involved 300 participants in total, 150 of them were RA patients and the remaining 150 were healthy controls. Using tetra primer ARMS-PCR, the polymorphisms rs12826786 and rs1899663 were detected. More observations of the T allele of rs1899663 and the C allele of rs12826786 were made in the study group compared to the control group. The rs12826786 variant displayed a significant association with susceptibility to RA in both recessive (OR = 2.45, 95% CI = 1.47-4.09, = 0.0004) and over-dominant (OR = 0.42, 95% CI = 0.26-0.68, = 0.0003) models. In addition, the rs1899663 was shown to be linked to RA susceptibility in the co-dominant model (OR = 0.32, 95% CI = 0.17-0.61, = 0.0004 for GG genotype), dominant model (OR = 0.48, 95% CI = 0.29-0.81, = 0.005), and recessive model (OR = 0.43, 95% CI = 0.25-0.74, = 0.001). The CT haplotype is linked to a greater risk of RA, whereas the CG haplotype confers protection against RA. We reported for the first time, rs12826786 and rs1899663 variants are associated with susceptibility to developing RA among the Iranian population. In addition, the CT and CG haplotypes were associated with the risk of RA. Further functional studies are needed to elucidate the role of these variations on expression.
Identification and Characterization of Novel Variants of Fumarylacetoacetate Hydrolase (FAH) Gene in Clinically Suspected Patients of Tyrosinemia Type 1: Tertiary Care Centre Study of North India.
Kaur S, Bhadoriya RPS, Jain S … +4 more , Lal S, Attri SV, Prasad R, Ram S
Indian J Clin Biochem · 2026 Apr · PMID 41834933 · Full text
UNLABELLED: Tyrosinemia type I is a rare autosomal recessive metabolic disease caused by the deficiency of Fumarylacetoacetate hydrolase (FAH). The deficiency leads to the accumulation of toxic metabolites leading to the...
UNLABELLED: Tyrosinemia type I is a rare autosomal recessive metabolic disease caused by the deficiency of Fumarylacetoacetate hydrolase (FAH). The deficiency leads to the accumulation of toxic metabolites leading to the hepatorenal complications. The present study was planned for the identification of the spectrum of disease-causing mutations in the FAH gene of North Indian population. 70 clinically suspected tyrosinemia type I patients were recruited. Urinary Succinylacetone was estimated using Gas Chromatography Mass spectrometry (GCMS). The gene FAH was sequenced by Sanger sequencing in the patients whose exons showed band mobility change by single standard conformation polymorphism (SSCP) screening. Identified variants were functionally analyzed using software tools for identification of pathogenic variants with in vitro functional characterization. Urinary Succinylacetone was not detected in urine of the recruited patients. Sequencing analysis revealed 24variants in nine patients. The majority of these variants were predicted to be disease causing by in silico software programs. In vitro, analysis showed that variants L17P + F22I + I373T and G307X, S130C and G307X can reduce protein expression and catalytic activity of . Tyrosinemia type I is a rare disease but has severe mortality and morbidity. In India, diagnostic and treatment strategies are insufficient against this disease; therefore, majority of the cases may remain undiagnosed. Identification of these disease-causing mutations in the recruited study subjects implicate the requirement of neonatal or prenatal screening for Tyrosinemia Type I in future. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12291-024-01236-6.
Birth Prevalence of Endocrine-Metabolic Disorders Detected by Newborn Screening Test in Pune (India) Population.
Narawade S, Mahalle N, Bhavar S … +3 more , Waghule S, Bobade S, Naik S
Indian J Clin Biochem · 2026 Apr · PMID 41834932 · Full text
Although most of the babies are born healthy and appear normal, a few babies exhibit abnormal medical conditions. Newborn screening for inborn errors of metabolism is an established panel of tests that assist in the time...
Although most of the babies are born healthy and appear normal, a few babies exhibit abnormal medical conditions. Newborn screening for inborn errors of metabolism is an established panel of tests that assist in the timely recognition of treatable disorders. 8007 Neonates born in a well known hospital from August 2019 to August 2021 were screened for the following five tests: Thyroid stimulating Hormone, 17-hydroxy progesterone (17-OHP), Total Galactose(GAL), Glucose 6 Phosphate Dehydrogenase (G6PD) and Biotinidase (BTD). Dried blood spots (DBS) were processed for the above tests using Enzyme-linked immunosorbent assay (ELISA), colorimetric, and dissociation-enhanced lanthenide-fluroscent immunoassay (DELFIA) techniques. DBS with abnormal results were retested for confirmation. Affected infants were recalled for venous blood collection for confirmation. We found 4 newborns with Hypothyroidism (CH 1: 2002), 4 with congenital adrenal hyperplasia (CAH 1:2002), 9 with G6PD deficiency (1:900), one with galactose-phosphate-uridyl transferase deficiency (1: 8000) and one with biotinidase deficiencyduring the study period. Parents of G6PD deficient babies were counseled. Congenital Hypothyroidism (CH) and Congenital Adrenal Hyperplasiababies were treated and followed up to find the response. The outcome of the screening result shall prevent the family and society in turn from facing severe and unbearable consequences.
Are Adiponectin and Insulin Resistance Related to Stress Hyperglycaemia in Critically Ill Patients?
Ülger P, Yildiz E, Kribben A … +2 more , Janßen OE, Herget-Rosenthal S
Indian J Clin Biochem · 2026 Apr · PMID 41834931 · Full text
UNLABELLED: Stress hyperglycaemia (SH) is frequent in critical illness, increases morbidity and mortality and is strongly associated with acute kidney injury (AKI). It remains unanswered whether insulin resistance or dec...
UNLABELLED: Stress hyperglycaemia (SH) is frequent in critical illness, increases morbidity and mortality and is strongly associated with acute kidney injury (AKI). It remains unanswered whether insulin resistance or decreased adiponectin contribute to SH as they do to chronic hyperglycaemia. Our aims were to identify potential relationships between insulin resistance, serum high molecular weight (HMW) adiponectin and SH, while controlling for and excluding other risk factors and confounders of both SH and chronic hyperglycaemia such as diabetes, as well as potential relationships between HMW-adiponectin and subsequent AKI. We studied 158 critically ill patients admitted to intensive care units. SH was defined by blood glucose > 140 mg/dl, insulin resistance as Homeostasis model assessment-2-scores above the 75th percentile, decreased HMW-adiponectin as values below the 25th percentile, and AKI by Kidney-Disease-Improving-Global-Outcomes criteria. Seventy-seven patients (48.7%) featured SH. Patients with and without SH were well balanced in regard to most factors causing chronic hyperglycaemia. The SH group had substantially higher HOMA-2-scores and lower serum HMW-adiponectin levels. Adjusted to risk factors of SH and chronic hyperglycaemia, both insulin resistance and decreased serum HMW-adiponectin levels were independently and strongly related to SH (adjusted odds ratios 7.24 (95% confidence interval 3.17-19.01) and 3.10 (95% confidence interval 1.61-5.47), respectively). In the subgroups of SH and non-SH patients without AKI, HMW-adiponectin was significantly higher. In conclusion, insulin resistance and decreased HMW-adiponectin may be risk factors of SH in critically ill patients. In addition, elevated serum HMW-adiponectin may attenuate AKI irrespective of SH. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12291-024-01232-w.
SARS-CoV-Antibodies for a Year Following SARS-CoV-Vaccinations.
Kleebayoon A, Wiwanitkit V
Indian J Clin Biochem · 2026 Apr · PMID 41834930 · Full text
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Farnesoid X Receptor-Mediated Bile Acids Regulation in Cholestasis.
Mohammed TA, Zalzala MH
Indian J Clin Biochem · 2026 Apr · PMID 41834929 · Full text
The main process, for the elimination of cholesterol from the human body, involves the alteration of cholesterol into bile acid (BA), by the liver. The farnesoid X receptor (FXR), a member of the nuclear receptor superfa...
The main process, for the elimination of cholesterol from the human body, involves the alteration of cholesterol into bile acid (BA), by the liver. The farnesoid X receptor (FXR), a member of the nuclear receptor superfamily, is essential for the regulation of BA, glucose, and lipid metabolism. It is largely found in the liver, intestines, kidney, and adrenal glands, and to a smaller degree in the heart and adipose tissue. The binding locations, of the FXR, are in close proximity to formerly undisclosed target genes, with distinctive activities associated with transcriptional regulators, autophagy, apoptosis, hypoxia, inflammation, RNA processing, and a number of cellular signaling pathways. The preservation of BA homeostasis, by the FXR, entails the direct stimulation of the expression of the small heterodimer partner in the liver, and the fibroblast growth factor 15/19 (FGF15/FGF19) in the intestine, which impedes the activity of enzymes associated with hepatic BA synthesis, including cytochrome P450 7A1 (Cyp7a1). This investigation delves into the role of the FXR in terms of BA metabolism regulation, as well as its role in the pathophysiologic activity of cholestasis.
Diagnostic Significance of Elabela, FABP1, and FABP2 as Biomarkers of Diabetic Nephropathy in Type 2 Diabetic Patients.
Mohamed SM, Ramadan KS, Saedii AA … +1 more , Ibrahim EA
Indian J Clin Biochem · 2026 Apr · PMID 41834928 · Full text
UNLABELLED: Among the side effects of diabetes mellitus is diabetic nephropathy, the main reason for end-stage kidney disease linked to increased mortality and morbidity. Early diagnostic biomarkers for diabetic nephropa...
UNLABELLED: Among the side effects of diabetes mellitus is diabetic nephropathy, the main reason for end-stage kidney disease linked to increased mortality and morbidity. Early diagnostic biomarkers for diabetic nephropathy are required to stop or even slow down the progression of the disease and to administer the most appropriate protective treatments on time. Therefore, it is essential to study additional potential biomarkers for the early diagnosis of diabetic nephropathy. This study aims to evaluate elabela, FABP1, and FABP2 levels synergistically as a new diagnostic tool for the early detection of diabetic nephropathy in type 2 diabetic patients. This study was conducted on 95 subjects (75 patients with type 2 diabetes and 20 healthy controls). Type 2 diabetic patients were divided based on their urinary ACR into three groups: normal albuminuria, microalbuminuria (early nephropathy), and macroalbuminuria (overt nephropathy), and compared to healthy controls. Serum elabela, FABP1, and FABP2 levels and some biochemical parameters were evaluated. The level of serum elabela significantly decreased ( < 0.05), while FABP1 and FABP2 levels significantly increased ( < 0.05) with the increase in the severity of diabetic nephropathy compared to the control group. There were significant negative correlations between elabela and FABP1, FABP2, and urinary ACR and significant positive correlations with eGFR in all patient groups. FABP1 and FABP2 levels showed significant negative correlations with eGFR and significant positive correlations with urinary ACR. Multiple linear regression analysis illustrated a significant effect of urinary ACR on the three biomarkers in all studied groups. ROC curve analysis demonstrated that the combination of elabela, FABP1, and FABP2 had the highest diagnostic performance with an AUC of 1.0 ( = 0.001), and the sensitivity and specificity reached 100% in all patient groups compared to the control group. In conclusion, elabela, FABP1, and FABP2 may be potential new biomarkers of diabetic nephropathy. Combining these three biomarkers can be used synergistically as a diagnostic tool for the early diagnosis of diabetic nephropathy in type 2 diabetic patients. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12291-024-01231-x.
The Role of Commercial Artificial Intelligence Tools in Advancing Clinical Chemistry Laboratories.
Akbay A
Indian J Clin Biochem · 2026 Apr · PMID 41834927 · Full text
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Comparison of Serum Zn, Cu, Mg, Mn, Cr, and Fe Levels in Iraqi COVID-19 Patients and their Association with Infection Severity.
Al-Fartusie FS, Kader SI, Mohammed SJ … +3 more , Mahmood FM, Algaber AA, Farhan MN
Indian J Clin Biochem · 2026 Apr · PMID 41834926 · Full text
UNLABELLED: An ideal level of vital trace elements (TE) is crucial for the immune system to protect organs from infections. TE, in particular, zinc (Zn), copper (Cu), magnesium (Mg), manganese (Mn), chromium (Cr), and ir...
UNLABELLED: An ideal level of vital trace elements (TE) is crucial for the immune system to protect organs from infections. TE, in particular, zinc (Zn), copper (Cu), magnesium (Mg), manganese (Mn), chromium (Cr), and iron (Fe), affect an individual's sensitivity to the exposure and progression of viral diseases, such as COVID-19. Therefore, this study evaluated the level of these TE during hospitalization in an isolation center and investigated their association with the severity of COVID-19. This study included 118 individuals, 63 male and 55 female aged between 20 and 60 years. Seventy-eight COVID-19 patients and 40 healthy individuals were included in this study. Infected individuals were classified into moderate and severe based on the severity of their symptoms. The levels of Zn, Mg, Mn, Cr, and Fe were significantly decreased in moderate and severe groups compared to the controls ( < 0.0001), respectively. Conversely, levels of Cu were found significantly increasing compared to individuals in the control's groups ( < 0.0001). Among the total number of infected cases, the levels of Zn, Cu, Mn, Cr, and Fe did not significantly increase with increasing severity (from moderate to severe). The findings indicated that TE levels were not altered in a severity-dependent manner, showing that TE affect the individual's vulnerability to COVID-19, not its progression. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12291-024-01254-4.
From Vesicles to Value: A Standards-First Blueprint for Exosomal Small-RNA Diagnostics.
Vijayasimha M, Jayaswal RP, Choudhary RK
Indian J Clin Biochem · 2026 Apr · PMID 41834925 · Full text
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Heavy Metal Exposure and its Health Implications: A Comprehensive Review.
Fatima G, Raza AM, Dhole P
Indian J Clin Biochem · 2026 Apr · PMID 41834924 · Full text
Toxic metal exposure is a global health concern with serious implications for human well-being. Metals such as lead, mercury, arsenic, and cadmium are widely present in the environment due to natural processes and human...
Toxic metal exposure is a global health concern with serious implications for human well-being. Metals such as lead, mercury, arsenic, and cadmium are widely present in the environment due to natural processes and human activities, including industrial emissions, mining, and agricultural practices. Humans are exposed to these metals through inhalation, ingestion, and dermal contact via contaminated air, water, food, and consumer products. Once inside the body, toxic metals disrupt cellular functions by inducing oxidative stress, interfering with enzymatic activity, and binding to biomolecules like proteins and DNA. This leads to cellular damage, inflammation, and apoptosis. The health consequences are severe, affecting multiple organ systems. Lead and mercury are known for their neurotoxic effects, leading to cognitive impairment and neurodevelopmental deficits. Cadmium exposure is linked to hypertension and cardiovascular disease, while arsenic and cadmium have carcinogenic properties, increasing the risk of lung, bladder, and liver cancer. Kidney damage is another major concern associated with cadmium and lead exposure. Preventing toxic metal exposure requires stringent regulations, pollution control measures, and public education. Environmental monitoring and biomarker assessments are essential for identifying at-risk populations. Effective strategies include reducing industrial emissions, promoting safer alternatives, and implementing global policies to minimize contamination. Addressing toxic metal exposure requires a collaborative effort at local, national, and international levels to safeguard public health and mitigate long-term health risks.
An improved Glucocerebrosidase Assay for Accurate Prediction of Lysosomal Dysfunction: Exemplified by Its Relevance in Parkinson's Disease.
Babu A, Jayan AS, Sethumadhavan A … +5 more , Mandagini G, Raghavan CT, Gopala S, Krishnan S, Urulangodi M
Indian J Clin Biochem · 2026 Apr · PMID 41834923 · Full text
UNLABELLED: Functional lysosomes are crucial for preventing the abnormal accumulation of proteins and resulting neuronal injury and cell death associated with ageing. Given the importance of lysosomal dysfunction in neur...
UNLABELLED: Functional lysosomes are crucial for preventing the abnormal accumulation of proteins and resulting neuronal injury and cell death associated with ageing. Given the importance of lysosomal dysfunction in neurodegenerative diseases, there is a need to develop minimally invasive methods to assess this dysfunction. Here, we describe a modified lysosomal glucocerebrosidase (GCase) assay using leukocytes isolated from human subjects, by incorporating a specific GCase inhibitor, which improved the assay by alleviating any non-specific interference. The assay was carried out using samples from both patients with Parkinson's disease (PD) and healthy controls. GBA1 gene sequencing was performed in those whose activity was below the mean normal GCase value. PD patients showed a decreased GCase activity (3.32 ± 1.85 nmol/10 WBCs/h) compared to controls (3.60 ± 2.22 nmol/10 WBCs/h) in the absence of any GBA1 mutations. The results presented in this study highlight the significance of measuring the GCase activity in PD, both in individuals with GBA mutations and those without. Further, this simple and specific assay could be useful in assessing lysosomal function in the setting of any age-associated neurodegenerative diseases. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12291-024-01234-8.
Exploring the Interplay Between Micronutrients and Cytokine Storm in Children with Multisystem Inflammatory Syndrome: 'A Potential Mechanical Insight'.
Elizabeth L, Shanthi B, Cherupanakkal C … +3 more , Joseph JJ, Anirudhan A, Vaidyanathan K
Indian J Clin Biochem · 2026 Feb · PMID 41675121 · Full text
Multisystem inflammatory syndrome in children (MIS-C) is a rare but serious condition linked to SARS-CoV-2 infection. MIS-C is characterized by inflammation in several organ systems, including the heart, lungs, kidneys,...
Multisystem inflammatory syndrome in children (MIS-C) is a rare but serious condition linked to SARS-CoV-2 infection. MIS-C is characterized by inflammation in several organ systems, including the heart, lungs, kidneys, brain, skin, and eyes. Although MIS-C symptoms can vary widely, typical symptoms include fever, stomach ache, nausea, vomiting, diarrhea, rash, red eyes, and exhaustion. Although the pathogenesis of MIS-C is not yet fully understood, studies have shown that an uncontrolled immunological response known as a "cytokine storm" may play a role in the development of MIS-C. Several studies have related micronutrient deficiencies to chronic immunological activation, increased inflammation, increased cytokine production, and increased chance of developing a persistent viral infection. Studies have shown that children with MIS-C had lower micronutrients, including vitamin D, C, and zinc, than do healthy kids. Deficits in these nutrients, which are crucial for controlling the immunological response, may make the immune system less able to fight off infections and cause MIS-C. In conclusion, research on the connection between MIS-C and micronutrient deficiencies is still in its early stages. Although there is some evidence linking the two, additional research is required to determine a cause and effect.
Differential Expression of Circulating miR-221-3p, miR-146a-5p, miR-206 and Their Diagnostic Value in Lung Cancer.
Wani JA, Majid S, Shah NN … +3 more , Waza AA, Rather MY, Shafi H
Indian J Clin Biochem · 2026 Feb · PMID 41675120 · Full text
Lung cancer is a major health problem and the second most common cancer in the Kashmiri population. It is often diagnosed at an advanced stage, leading to poor clinical outcomes. The aim of this study was to investigate...
Lung cancer is a major health problem and the second most common cancer in the Kashmiri population. It is often diagnosed at an advanced stage, leading to poor clinical outcomes. The aim of this study was to investigate the differential expression of serum microRNAs (miR-146a-5p, miR-206 and miR-221-3p) and their diagnostic value in lung cancer patients from Kashmir. Serum miRNAs were isolated using a Trizol-based protocol. A pooled reverse transcription protocol was used to convert miRNA to cDNA using miRNA-specific stem-loop primers. Serum miRNA expression was determined by RT-qPCR using Sybr green. miR-221-3p (1.89, -value 0.001) and miR-146a-5p (1.445, -value 0.006) were significantly upregulated in serum of lung cancer patients compared to non-lung cancer patients. However, miR-206 was downregulated in the serum of lung cancer (- 2.6, -value 0.021). miR-221-3p showed the highest diagnostic significance due to its highest area under the curve (AUC) value (0.825, -value 0.001). Our study identifies miR-221-3p as the most promising miRNA for the diagnosis of lung cancer in Kashmiri population. These findings contribute to the growing knowledge of lung cancer biomarkers and may facilitate early detection and improved clinical management in the Kashmiri population.
The Pathogenesis of Rheumatic Heart Disease with Unsettled Issues.
Sharma S, Sharma U
Indian J Clin Biochem · 2026 Feb · PMID 41675119 · Full text
In underdeveloped nations like India, rheumatic heart disease (RHD) is a serious public health concern that significantly increases cardiac morbidity and mortality. It is a progressive form of heart valves damage that le...
In underdeveloped nations like India, rheumatic heart disease (RHD) is a serious public health concern that significantly increases cardiac morbidity and mortality. It is a progressive form of heart valves damage that leads to dysfunction of the heart. According to WHO 2020, It is urgently necessary to clarify the pathogenic mechanisms underlying RHD in order to develop therapeutic interventions. Molecular mimicry (MM), the fundamental mechanism underlying RHD, is triggered by antigens on group A streptococcus (GAS) to activate CD4 + T cells, which subsequently cross-react with related peptides in the tissue surrounding the heart valve. Although, the most well-established theory for the development of RHD is MM, however, over the past few years, competence of MM theory to elucidate autoimmune diseases in RHD is questioned several times. The GAS first adheres and colonize on the surface of epithelium of the heart and then with the help of various adhesion molecules invade the heart valves and cause inflammation. Furthermore, the observation that multiple members of the affected person's family have RHD supports the idea that genetics plays a role in the RHD pathogenesis. This suggests a genetic predisposition for RHD. Therefore, in the present review, besides MM, other factors such as cellular proteins, various cells producing cytokines and chemokines, and genetic factors that leads to disease manifestation have been discussed.
Association of Interleukins 17A and 17F Gene Polymorphism with Asthma: A Case Control Study in North Indian Population.
Pandey R, Prakash V
Indian J Clin Biochem · 2026 Feb · PMID 41675118 · Full text
The number of cases of asthma patients has been on rise globally due to several factors. The available scanty information concerning attributes of certain genes in asthma's pathophysiology is a blockade in its early diag...
The number of cases of asthma patients has been on rise globally due to several factors. The available scanty information concerning attributes of certain genes in asthma's pathophysiology is a blockade in its early diagnosis and treatment. The objective of present study was to investigate roles of IL-17A and IL-17F in occurrence and severity of asthma in North Indian population. This study involved 150 cases with asthmatics and 150 healthy controls. Asthmatic patients were confirmed by Spirometry and other clinical parameters. The genotype frequencies observed for all genes in controls were in Hardy Weinberg Equilibrium (HWE). The results suggested that the asthmatics of the same height and age had lower weight and higher smoking rate in comparison to controls. The asthmatics displayed cough, breathlessness, congestion, disturbed sleep, headache, and wheezing. These parameters were found to be significantly elevated in asthmatics. Excepting Hb, levels of blood eosinophils, AEC, TLC and serum IgE were higher in cases than controls. The lower serum IL-17F and IL-17A levels were recorded in asthmatics. In IL-17F, rs 2397084 and rs763780 mutants and variant genotypes were found to be increased in cases than in controls. In rs 2397084 CC, CT + CC was significantly higher in cases. Also, rs763780 mutant and variant genotypes were significantly higher in cases. In contrast, IL-17A rs2275913 showed hetero GA variant GA + AA significantly higher in cases. The rs3748067 indicated variant GA + AA to be non-significantly higher in cases. The RFLP analysis of certain regions in IL17F and IL17A genes and increased IL-17A and IgE levels in the blood of asthmatics have generated evidences to indicate that these markers might be playing key roles in onset and severity of asthma. These indices may therefore be exploited for timely diagnosis and adequate management of asthma.
LENG8-AS1: A Prognostic Biomarker in Colorectal Cancer-Differential Expression and Clinical Implications.
Jafarnia P, Mahdevar M, Peymani M
Indian J Clin Biochem · 2026 Feb · PMID 41675117 · Full text
Colorectal cancer (CRC) manifests as a prevalent malignancy marked by distinct gene expression patterns. In the intricate landscape of cancer development, non-coding RNAs, particularly long non-coding RNAs (lncRNAs), exe...
Colorectal cancer (CRC) manifests as a prevalent malignancy marked by distinct gene expression patterns. In the intricate landscape of cancer development, non-coding RNAs, particularly long non-coding RNAs (lncRNAs), exert a substantial influence. This research aimed to investigate the expression patterns of the antisense long non-coding RNA (lncRNA), LENG8-AS1, and its consequential impact on the survival outcomes of patients diagnosed with CRC. Utilizing TCGA data and the TCGA Biolinks packages, a comprehensive analysis was conducted to identify potential lncRNA candidates implicated in CRC. The clinical data underwent Cox regression analysis to evaluate the correlation between the expression levels of selected lncRNAs, including LENG8-AS1, and the survival rates of patients. The predictive model of survival rates was visually represented through Kaplan-Meier plots. To validate the findings, real-time quantitative polymerase chain reaction (RT-qPCR) was performed on CRC samples and adjacent normal tissues. Data revealed that several lncRNAs, including CAPN10-AS1 and LENG8-AS1, associated with poor prognosis, while AC016027.1 and PTP4A1-AS1 were linked to better prognosis. Kaplan-Meier analysis supported the potential of these lncRNAs as prognostic markers for CRC. LENG8-AS1, a less-studied lncRNA in CRC, was found to be upregulated and was correlated with genes involved in lipid metabolism and angiogenesis pathways. RT-qPCR confirmed the increased expression of LENG8-AS1 in CRC samples. Additionally, ROC curve analysis demonstrated the potential of LENG8-AS1 as a valuable biomarker for CRC. Overall, these findings suggest that LENG8-AS1 may serve as a biomarker for CRC, with its increased expression being associated with tumor progression and poor patient prognosis.
Hypertensive Pregnancy Supports Higher Adaptation of Stress Over Anemic Pregnancy: A Pilot Study.
Rastogi V, Kaushik N, Singhal AK … +3 more , Yadav B, Narayan A, Chandra NC
Indian J Clin Biochem · 2026 Feb · PMID 41675116 · Full text
Hypertension and anemia are the expected risk factors for fetal development and mother's health during pregnancy. This study targets relative stress adaptation in pregnancy between hypertension and anemia. This study has...
Hypertension and anemia are the expected risk factors for fetal development and mother's health during pregnancy. This study targets relative stress adaptation in pregnancy between hypertension and anemia. This study has been conducted on three types of pregnancies viz. regular, hypertensive and anemic pregnancy. The data obtained were compared against normal healthy controls. Blood pressure was monitored to label hypertensive pregnancy. Lipid profile was the severity marker for hypertensive subjects. Low hemoglobin and MCV levels were used as marker for anemia. Glycemic profile was verified by plasma glucose concentration to exclude diabetic subjects. BMI was calculated to exclude obesity. Commercially available ELISA based kits were used to see the expression of stress protein markers viz. PERK and NF-kB. This study has been focused on the limits of expression of adaptive and alarming genes during the phase of pregnancy. PERK(P) expression was considered to evaluate adaptation status and NF-kB(N) expression to denote alarming stature. The values were compared against normal healthy controls. The relative adaptation index (P/N ratio) was found quite high at third trimester in cases of both hypertensive and anemic pregnancy as compare to the regular pregnancies having no anemia or hypertension. Comparatively more adaptation was notified in cases of hypertensive subjects over anemic counterpart. This study shows that the maintenance of pregnancy is naturally protected with enormous adaptive power by counteracting adverse stress factors like hypertension or anemia. Hypertensive subjects had even more adaptive power than anemic subjects in pregnancy time.
Co-existence of Congenital Hypothyroidism (CH) and TBG-Excess in a Boy Causing Simultaneous Elevation in Thyroid Stimulating Hormone (TSH) and Thyroxine (T4) Levels: First Report from India and Review of the Literature.
Gawandi S, Kumarasamy J, Kulkarni S
Indian J Clin Biochem · 2026 Feb · PMID 41675115 · Full text
A certain population of patients exhibits discordant thyroid function tests (TFT) consistently along with unclear symptoms may lead to equivocal diagnosis and treatment. Concomitant elevation in TSH and T4 is one of the...
A certain population of patients exhibits discordant thyroid function tests (TFT) consistently along with unclear symptoms may lead to equivocal diagnosis and treatment. Concomitant elevation in TSH and T4 is one of the patterns of discordant TFT which can be associated with different thyroid-related conditions and, hence, warrants differential diagnosis. A case of congenital hypothyroidism was investigated to determine the etiology of the consistent co-elevation in TSH and T4 despite thyroxine supplementation since birth. T4 dose was changed multiple times which caused abrupt fluctuations in TSH and T4 levels in the previous treatment. The index patient, II-1 did not have pituitary or liver abnormality or any transient factors that would elevate thyroid hormone-binding proteins. The results revealed that II-1 had TBG-excess. However, no mutation or copy number variation in the gene which codes for TBG was detected. Further, II-1 was detected with a homozygous mutation, c.955G > A in the exon 8 of the gene associated with CH. His mother and siblings were heterozygous for the mutation, however, they had normal TBG and TFT. The present study is the first report of the rare combination of endocrine disorders i.e., TBG-excess and CH, and is also the first report of the mutation c.955G > A from Indian ethnic origin. The co-occurrence of two endocrine abnormalities caused TFT discordance and confusion. This study highlights the importance of detailed biochemical and genetic testing for the differential diagnosis of thyroid disorders in patients exhibiting discrepant TFT results which would avoid misdiagnosis and inappropriate treatment.
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