Twin Res Hum Genet
· 2023 Aug · PMID 37641518
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The 18th International Society for Twin Studies convention took place between June 15-17, 2023, in Budapest, Hungary. A selective sampling of highlights from the meeting are presented. This is followed by a brief overvie...The 18th International Society for Twin Studies convention took place between June 15-17, 2023, in Budapest, Hungary. A selective sampling of highlights from the meeting are presented. This is followed by a brief overview of ongoing twin research at the University of Aberystwyth in Wales and some twin treasures in the National Library. Next, reviews of timely research that examine temperamental similarities and twin relations, the maximization of twin research designs, a rare ectopic twin pregnancy, and twins' academic self-concept formation are presented. The final section covers stories appearing in various media sources that are informative, enlightening, and interesting, namely a reunion of identical infant twins, the birth of identical-fraternal quadruplets, identical twin comedians, meeting an unrelated look-alike, and twins in the Tour de France.
Twin Res Hum Genet
· 2023 Aug · PMID 37489533
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The purpose of this research was to determine the frequency of mutation of the cytochrome genes and transport proteins SLCO1B1 and MDR1 in patients with coronary heart disease in the Kazakh nation. A prospective cohort...The purpose of this research was to determine the frequency of mutation of the cytochrome genes and transport proteins SLCO1B1 and MDR1 in patients with coronary heart disease in the Kazakh nation. A prospective cohort clinical and genetic study was conducted. The study was conducted in 2017-2019. Medical records containing information about drug prescription conducted in hospitals and outpatient departments were carefully analyzed. In the examined group of 178 patients treated with statins, a significant frequency of genetic variants that determine the increased risk of complications of statin use was revealed. There was a tendency toward an increase in the activity of creatine phosphokinase (CPK) in the blood upon detection of the A6986G mutation of the cytochrome gene and (c.521T>C) gene of the transport protein OATP1B1. In the studied Kazakh population, the presence of a homozygous mutant gene of the transport protein can be recommended as a genetic marker for the undesirability of using antihypercholesterolemic therapy with statins, which simultaneously leads to a decrease in the effectiveness of treatment and an increase in the risk of side effects.
Gomez LM, Mitchell BL, McAloney K
… +8 more, Adsett J, Garden N, Wood M, Diaz-Torres S, Garcia-Marin LM, Breakspear M, Martin NG, Lupton MK
Twin Res Hum Genet
· 2023 Jun · PMID 37476981
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The recruitment of participants for research studies may be subject to bias. The Prospective Imaging Study of Ageing (PISA) aims to characterize the phenotype and natural history of healthy adult Australians at high futu...The recruitment of participants for research studies may be subject to bias. The Prospective Imaging Study of Ageing (PISA) aims to characterize the phenotype and natural history of healthy adult Australians at high future risk of Alzheimer's disease (AD). Participants approached to take part in PISA were selected from existing cohort studies with available genomewide genetic data for both successfully and unsuccessfully recruited participants, allowing us to investigate the genetic contribution to voluntary recruitment, including the genetic predisposition to AD. We use a polygenic risk score (PRS) approach to test to what extent the genetic risk for AD, and related risk factors predict participation in PISA. We did not identify a significant association of genetic risk for AD with study participation, but we did identify significant associations with PRS for key causal risk factors for AD, IQ, household income and years of education. We also found that older and female participants were more likely to take part in the study. Our findings highlight the importance of considering bias in key risk factors for AD in the recruitment of individuals for cohort studies.
Individual differences in educational attainment (EA) and physical health, as indexed by body mass index (BMI), are correlated within individuals and across generations. The aim of our study was to assess the transmissio...Individual differences in educational attainment (EA) and physical health, as indexed by body mass index (BMI), are correlated within individuals and across generations. The aim of our study was to assess the transmission of these traits from parents to their offspring in childhood and adolescence. We analyzed BMI and EA in 13,916 families from the Netherlands. Data were available for 27,577 parents (mean age 33) and 26,855 of their offspring at 4 and 12 years of age. We employed structural equation modeling to simultaneously estimate the phenotypic transmission of BMI and EA from parents to offspring, the spousal correlations, and the residual child BMI-EA associations after accounting for intergenerational transmission and testing for gender differences therein. We found a significant intergenerational transmission of BMI to BMI in childhood (age 4; standardized regression coefficient β = .10) and adolescence (age 12; β = .20), and of EA to academic achievement in adolescence (β = .19). Cross-trait parent-to-offspring transmission was weak. All transmission effects were independent of parent or offspring gender. We observed within-person EA-BMI correlations that were negative in parents (∼-.09), positive in children (∼.05) and negative in adolescents (∼-.06). Residual EA-BMI were positive in children (∼.05) and insignificant in adolescents. Spousal correlations were .46 for EA, .21 for BMI, and ∼-.09 cross-trait. After accounting for spousal correlations, the intergenerational transmission for BMI and EA is mainly predictive within, but not across, traits. The within-person correlation between BMI and EA can change in direction between childhood and adulthood.
Twin Res Hum Genet
· 2023 Jun · PMID 37458219
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Preeclampsia (PE) is a hypertensive disorder of pregnancy. PE patients were reported to have higher serum levels of C-reactive protein (CRP), interleukin-6 (IL-6) and tumor necrosis factor α (TNF-α) than those in healthy...Preeclampsia (PE) is a hypertensive disorder of pregnancy. PE patients were reported to have higher serum levels of C-reactive protein (CRP), interleukin-6 (IL-6) and tumor necrosis factor α (TNF-α) than those in healthy controls. However, whether the expressions of these inflammation biomarkers have a causal relationship with PE is unspecified. We applied the Mendelian randomization method to infer the causal relationship between inflammation biomarkers (e.g., CRP, IL-6, interleukin 1 receptor antagonist [IL-1ra] and TNF-α) and PE. Single nucleotide polymorphisms (SNPs) strongly related to inflammation biomarkers were used as instrumental variables. CRP, IL-1ra and IL-6 levels showed no significant effect on PE progression, while the genetic predicted higher level of TNF-α significantly increased the risk of PE ( per 1- increase in TNF-α: 4.33; 95% CI [1.99, 9.39]; = .00021). The findings suggest that pro-inflammatory activity of TNF-α could be a determinant for PE progression. More antenatal care should be given to those pregnant women with higher level of inflammation biomarkers, especially TNF-α.
Odintsova VV, van Dongen J, van Beijsterveldt CEM
… +5 more, Ligthart L, Willemsen G, de Geus EJC, Dolan CV, Boomsma DI
Twin Res Hum Genet
· 2023 Jun · PMID 37448258
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In studies of singletons, a range of early-life characteristics have been reported to be associated with handedness, but some of these associations have failed to replicate. We examined associations between 23 early life...In studies of singletons, a range of early-life characteristics have been reported to be associated with handedness, but some of these associations have failed to replicate. We examined associations between 23 early life characteristics with handedness in a large sample of 37,495 5-year-old twins. We considered three definitions of handedness: left-handedness (LH), mixed-handedness (MH), and non-right-handedness (NRH). Our main aim was to test whether the associations with sex, birth weight, gestational age, and season of birth - as reported in singletons - replicate in twins, and to examine twin-specific variables, including zygosity, chorionicity, birth order, and intertwin delivery time. Compared to previously published data from adults born as singletons (7.23%), the prevalence of NRH was higher in both twins (16.19%) and their parents (15.09%). In the twins, LH and NRH were associated with parents' LH. Male sex and lower gestational age were associated with NRH, and LH was associated with not being breastfed. MH was related to neurodevelopmental delays and higher externalizing problems later in childhood. Other previously reported associations were not replicated, and no twin-specific characteristics were related to handedness. These results emphasize the importance of considering multiple definitions of handedness and indicate a small number of replicated associations across studies.
Twin Res Hum Genet
· 2023 Jun · PMID 37400944
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Twins' memoirs and autobiographies both enlighten and entertain. These works, often overlooked by researchers, may suggest new avenues for investigation, such as nonshared environmental events that propel twins in differ...Twins' memoirs and autobiographies both enlighten and entertain. These works, often overlooked by researchers, may suggest new avenues for investigation, such as nonshared environmental events that propel twins in different directions. Of course, MZ twins' generally parallel experiences and DZ twins generally criss-crossing paths are the bases of fascinating life stories. The following sections examined recent research on fetal reduction in twin pregnancy, twins' personality and military service, growth restriction in twins, and advances in conjoined twin separation. This article closes with reports of a scientist who performed gene editing on twins, a twin conception from 33-year-old embryos, twins' physical outcomes from dietary differences, fraternal twins with the world's largest height difference and the Twin Home Experts who conquer rat infestation in New York.
Twin Res Hum Genet
· 2023 Jun · PMID 37288525
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Assisted reproductive technology is a crucial factor that increases the incidence of monozygotic twinning in humans. This article discusses the impact of various indicators in assisted reproductive technology studies on...Assisted reproductive technology is a crucial factor that increases the incidence of monozygotic twinning in humans. This article discusses the impact of various indicators in assisted reproductive technology studies on pregnancy outcomes, especially studies with a large number of clinical cases. Furthermore, three rare cases in multiples pregnancy are discussed: fetus papyraceous of a pair of male monozygotic twins in a set of triplets, two pairs of sesquizygotic twins with sex-discordance, and rare conjoined triplets.
Joseph has written what purports to be a refutation of studies of Twins Reared-Apart (TRAs) with a singular focus on the Minnesota Study of Twins Reared-Apart (MISTRA). I show, in detail, that (a) his criticisms of previ...Joseph has written what purports to be a refutation of studies of Twins Reared-Apart (TRAs) with a singular focus on the Minnesota Study of Twins Reared-Apart (MISTRA). I show, in detail, that (a) his criticisms of previous TRA studies depend on sources that were discredited prior to MISTRA, as they all failed the test of replicability, (b) the list of biases he uses to invalidate MISTRA do not support his arguments, (c) the accusations of questionable research practices are unsubstantiated, (d) his claim that MISTRA should be evaluated in the context of psychology's replication crisis is refuted. The TRA studies are constructive replications. Like many other scholars, past and present, he has been misled by the variation introduced by small samples (sampling error) and the distortion created by walking in the garden of forking paths. His endeavor is a concatenation of elision and erroneous statistical/scientific reasoning.
Vears DF, Boyle J, Jacobs C
… +3 more, McInerney-Leo A, Newson AJ, Education, Ethics and Social Issues Committee of the Human Genetics Society of Australasia
This Position Statement provides guidelines to assist all health professionals who receive requests for carrier testing and laboratory staff conducting the tests.In this Statement, the term 'carrier testing' refers to ge...This Position Statement provides guidelines to assist all health professionals who receive requests for carrier testing and laboratory staff conducting the tests.In this Statement, the term 'carrier testing' refers to genetic testing in an individual to determine whether they have inherited a pathogenic variant associated with an autosomal or X-linked recessive condition previously identified in a blood relative. Carrier testing recommendations: (1) Carrier testing should only be performed with the individual's knowledge and consent; (2) An individual considering (for themselves, or on behalf of another) whether to have a carrier test should be supported to make an informed decision; (3) The mode of inheritance, the individual's personal experience with the condition, and the healthcare setting in which the test is being performed should be considered when determining whether carrier testing should be offered by a genetic health professional. Regarding children and young people: Unless there is direct medical benefit in the immediate future, the default position should be to postpone carrier testing until the child or young person can be supported to make an informed decision. There may be some specific situations where it is appropriate to facilitate carrier testing in children and young people (see section in this article). In such cases, testing should only be offered with pre- and post-test genetic counseling in which genetic health professionals and parents/guardians should explore the rationale for testing and the interests of the child and the family.
McInerney-Leo AM, Ayres S, Boyle J
… +3 more, Jacobs C, Newson AJ, Education, Ethics and Social Issues Committee of the Human Genetics Society of Australasia
The expansion of genetic and genomic testing in clinical practice and research, and the growing market for direct-to-consumer genomic testing has led to increased awareness about the impact of this form of testing on ins...The expansion of genetic and genomic testing in clinical practice and research, and the growing market for direct-to-consumer genomic testing has led to increased awareness about the impact of this form of testing on insurance. Genetic or genomic information can be requested by providers of mutually rated insurance products, who may then use it when setting premiums or determining eligibility for cover under a particular product. Australian insurers are subject to relevant legislation and an industry led standard that was updated in 2019 to introduce a moratorium on the use of genetic test results in life insurance underwriting for policies <AU$500K. The Human Genetics Society of Australasia has updated its position statement on genetic testing and life insurance to account for these changes and to increase the scope of the statement to include a wider range of personally-rated insurance products, such as life, critical care, and income protection products. Recommendations include that: providers of professional education involving genetics should include ethical, legal, and social aspects of insurance discrimination in their curricula; the Australian Government take a more active role in regulating use of genetic information in personal insurance; that information obtained in the course of a research project be excluded; insurers seek expert advice when making underwriting decisions regarding genetic testing; and engagement between the insurance industry, regulators, and the genetics profession be improved.
This population-based cohort study investigated the prevalence, potential risk factors, and consequences of birth weight discordance (BWD) among same-sex twins. We retrieved data from the automated system of healthcare u...This population-based cohort study investigated the prevalence, potential risk factors, and consequences of birth weight discordance (BWD) among same-sex twins. We retrieved data from the automated system of healthcare utilization databases of Lombardy Region, Northern Italy (2007-2021). BWD was defined as 30% or more disparity in birth weights between the larger and the smaller twin. Multivariate logistic regression was used to analyze the risk factors of BWD in deliveries with same-sex twins. In addition, the distribution of several neonatal outcomes was assessed overall and according to BWD level (i.e., ≤20%, 21-29, and ≥30%). Finally, a stratified analysis by BWD was performed to assess the relationship between assisted reproductive technologies (ART) and neonatal outcomes. We identified 11,096 same-sex twin deliveries; 556 (5.0%) pairs of twins were affected by BWD. Multivariate logistic regression analysis showed that maternal age ≥35 years ( 1.26, 95% CI [1.05,5.51]), low level of education ( 1.34, 95% CI [1.05, 1.70]), and ART ( 1.16, 95% CI [0.94, 1.44], almost significant due to the low power) were independent risk factors for BWD in same-sex twins. Conversely, parity ( 0.73, 95% CI [0.60, 0.89]) was inversely related. All the adverse outcomes observed were more common among BWD pairs than non-BWD ones. Instead, a protective effect of ART was observed for most neonatal outcomes considered among BWD twins. Our results suggest that conception after ART increases the risk of developing a high disparity between the weights of the two twins. However, the presence of BWD may complicate twin pregnancies, compromising neonatal outcomes, regardless of the modality of conception.
Wang A, Zhang T, Li J
… +5 more, Wang W, Xu C, Duan H, Tian X, Zhang D
Twin Res Hum Genet
· 2023 Jun · PMID 37170793
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Almost all creatinine is excreted by the kidney in individuals. Serum creatinine concentration, a widely used renal function index in clinical practice, can be affected by both genetic and environmental factors, as evide...Almost all creatinine is excreted by the kidney in individuals. Serum creatinine concentration, a widely used renal function index in clinical practice, can be affected by both genetic and environmental factors, as evidenced by current research exploring the relationship between these factors and kidney function. However, few studies have explored the heritability of serum creatinine in Asian populations. Therefore, we explored the genetic and environmental factors that affect the serum creatinine level in Asian populations. Participants in this study came from the Qingdao Twin Registry in China, and 374 pairs of twins were included, of which 139 pairs were dizygotic twins, whose ages ranged from 40 to 80 years old, and the serum creatinine level ranged from 10 to 126 μmol/L. Structural equation models were constructed using Mx software to calculate heritability, with adjusted covariates being age, sex, and body mass index. The results of heritability analysis showed that ACE was the best fit model. Serum creatinine level is influenced by genetic and environmental factors. The result of heritability was 35.44%, and the influence of shared environmental factors accounted for 52.13%. This study provided the relevant basis for future research on genetic and environmental factors affecting serum creatinine levels in Asian populations.
Waardenburg's syndrome involves deafness accompanied by various visual difficulties. The role of twins in identifying this disorder and advancing understanding of its origins and symptoms is described, beginning in 1916...Waardenburg's syndrome involves deafness accompanied by various visual difficulties. The role of twins in identifying this disorder and advancing understanding of its origins and symptoms is described, beginning in 1916 and continuing to the present. This overview is followed by current research on monozygotic (MZ) twins' different dermatoglyphic features, twins with sagittal suture crainosynostosis, blood pressure in female twins, and MZ twins' education and political knowledge. The final section presents media reports describing controversies surrounding twins created by reciprocal in vitro fertilization, reared-apart triplets' limited TV series, abducted twin infants, the Winkelvoss twins' charges by the Securities and Exchange Commission, and going from 'Me' to 'We'.
Whether the decline of birth weight (BW) reported in developed countries in the early 2000s is ongoing remains unknown. Furthermore, despite recent sharp increases in twin births, comparing secular trends of BW between s...Whether the decline of birth weight (BW) reported in developed countries in the early 2000s is ongoing remains unknown. Furthermore, despite recent sharp increases in twin births, comparing secular trends of BW between singletons and twins is difficult, as studies have rarely examined secular trends of BW in twins and singletons simultaneously. Therefore, this study aimed to investigate the most recent 20-year trends (2000-2020) of BW in twins and singletons in South Korea. Annual natality files from 2000 to 2020 obtained from the Korean Statistical Information Service were analyzed. A yearly decrease of BW was 3 g among singletons and 5 to 6 g in twins from 2000 to 2020, indicating a widening gap of BW between twins and singletons with increasing years. Gestational age (GA) also decreased in twins and singletons with yearly decreases of 0.28 days in singletons and 0.41 days in twins. Whereas BW decreased in term (GA ≥ 37 weeks), and very preterm groups (28 weeks ≤ GA < 32 weeks) from 2000 to 2020 in twins and singletons, it increased in moderate to late preterm (32 weeks ≤ GA < 37 weeks) groups, indicating a non-linear relationship between BW and GA. The prevalence of macrosomia (BW > 4000 g) in singletons decreased from 2000 to 2020, whereas low birth weight (LBW; BW < 2500 g) increased in twins and singletons. LBW is associated with adverse health outcomes. Effective public health strategies aiming at reduction in the incidence of LBW in the population should be developed.
Parkinson's disease (PD) is a complex disorder with a significant genetic component. Genetic variations associated with PD play a crucial role in the disease's inheritance and prognosis. Currently, 31 genes have been lin...Parkinson's disease (PD) is a complex disorder with a significant genetic component. Genetic variations associated with PD play a crucial role in the disease's inheritance and prognosis. Currently, 31 genes have been linked to PD in the OMIM database, and the number of genes and genetic variations identified is steadily increasing. To establish a robust correlation between phenotype and genotype, it is essential to compare research findings with existing literature. In this study, we aimed to identify genetic variants associated with PD using a targeted gene panel with next-generation sequencing (NGS) technology. Our objective was also to explore the idea of re-analyzing genetic variants of unknown significance (VUS). We screened 18 genes known to be related to PD using NGS in 43 patients who visited our outpatient clinic between 2018-2019. After 12-24 months, we re-evaluated the detected variants. We found 14 different heterozygous variants classified as pathogenic, likely pathogenic, or VUS in 14 individuals from nonconsanguineous families. We re-evaluated 15 variants and found changes in their interpretation. Targeted gene panel analysis with NGS can help identify genetic variants associated with PD with confidence. Re-analyzing certain variants at specific time intervals can be especially beneficial in selected situations. Our study aims to expand the clinical and genetic understanding of PD and emphasizes the importance of re-analysis.
Sipilä PN, Keski-Rahkonen A, Lindbohm JV
… +2 more, Rose RJ, Kaprio J
Twin Res Hum Genet
· 2023 Apr · PMID 37092738
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Parents' alcohol use is associated with alcohol use of their adolescent offspring, but does this association extend to the adulthood of the offspring? We examined associations of paternal and maternal problem drinking wi...Parents' alcohol use is associated with alcohol use of their adolescent offspring, but does this association extend to the adulthood of the offspring? We examined associations of paternal and maternal problem drinking with lifetime problem drinking of their adult offspring prospectively assessed in a population-based Finnish twin-family cohort (FinnTwin16). Problem drinking (Malmö-modified Michigan Alcoholism Screening Test) was self-reported separately by mothers and fathers when their children were 16. The children reported on an extended lifetime version of the same measure during their mid-twenties (21-28 years) and mid-thirties (31-37 years). 1235 sons and 1461 daughters in mid-twenties and 991 sons and 1278 daughters in mid-thirties had complete data. Correlations between fathers' and their adult children's problem drinking ranged from .12 to .18. For mothers and their adult children, these correlations ranged from .09 to .14. In multivariate models, adjustment for potential confounders had little effect on the observed associations. In this study, parental problem drinking was modestly associated with lifetime problem drinking of their adult children. This association could be detected even when the children had reached the fourth decade of life.