Twin Research And Human Genetics[JOURNAL]
Sun
200 papers
Twin Artists: Unique Sources of Inspiration and Talent/Twin Research Reviews: Ethnic and Racial Factors Affecting Type of Twin Delivery; Outcomes in Twins Conceived Naturally and With Reproductive Assistance; Delivery Time for Growth-Discordant Twins; 3D Study of Twins' Facial Resemblance/In the Media: Baseball Players With Divergent Careers; Basketball Twins in the Elite 8; Twins' Grave and Epitaph; Twins Conceived Three Times in 2 Years; Twins in the Hockey Hall of Fame; Superfetated Twins.
Segal NL
Twin Res Hum Genet · 2022 Oct · PMID 35920305 · Publisher ↗
The unique sources of artistic inspiration and talent of twin artists are examined. The professional literature is rich with twin studies of creativity, but lacking when it comes to specific artistic domains - for exampl...
The unique sources of artistic inspiration and talent of twin artists are examined. The professional literature is rich with twin studies of creativity, but lacking when it comes to specific artistic domains - for example, painting and sculpting. The section that follows provides reviews of current research on ethnic and racial factors affecting type of twin delivery, pregnancy outcomes when twins are conceived naturally or with reproductive assistance, the effects of intrauterine growth discordance on the timing of twin delivery, and three-dimensional (3D) assessment of twins' facial resemblance. The final section summarizes information about twins in the media. The stories include twins distinguished for both baseball playing and physical injuries, twins who reached the National College Athletic Association's Elite 8, a twin pair's grave and epitaph, a mother who conceived twins three times in 2 years, twins in the Hockey Hall of Fame, and a set of superfetated twins.
Persistence of Anxiety/Depression Symptoms in Early Adolescence: A Prospective Study of Daily Life Stress, Rumination, and Daytime Sleepiness in a Genetically Informative Cohort.
Hansell NK, Strike LT, de Zubicaray GI … +3 more , Thompson PM, McMahon KL, Wright MJ
Twin Res Hum Genet · 2022 Jun · PMID 35856184 · Publisher ↗
In this prospective study of mental health, we examine the influence of three interrelated traits - perceived stress, rumination, and daytime sleepiness - and their association with symptoms of anxiety and depression in...
In this prospective study of mental health, we examine the influence of three interrelated traits - perceived stress, rumination, and daytime sleepiness - and their association with symptoms of anxiety and depression in early adolescence. Given the known associations between these traits, an important objective is to determine the extent to which they may independently predict anxiety/depression symptoms. Twin pairs from the Queensland Twin Adolescent Brain (QTAB) project were assessed on two occasions ( = 211 pairs aged 9-14 years at baseline and 152 pairs aged 10-16 years at follow-up). Linear regression models and quantitative genetic modeling were used to analyze the data. Prospectively, perceived stress, rumination, and daytime sleepiness accounted for 8-11% of the variation in later anxiety/depression; familial influences contributed strongly to these associations. However, only perceived stress significantly predicted change in anxiety/depression, accounting for 3% of variance at follow-up after adjusting for anxiety/depression at baseline, although it did not do so independently of rumination and daytime sleepiness. Bidirectional effects were found between all traits over time. These findings suggest an underlying architecture that is shared, to some degree, by all traits, while the literature points to hypothalamic-pituitary-adrenal (HPA) axis and/or circadian systems as potential sources of overlapping influence and possible avenues for intervention.
Co-Inheritance of Variation in All-Cause Mortality and Biochemical Risk Factors.
Whitfield JB, Colodro-Conde L, Zhu G … +4 more , Timmers PRHJ, Joshi PK, Montgomery GW, Martin NG
Twin Res Hum Genet · 2022 Jun · PMID 35818962 · Publisher ↗
Biomarkers may be useful endophenotypes for genetic studies if they share genetic sources of variation with the outcome, for example, with all-cause mortality. Australian adult study participants who had reported their p...
Biomarkers may be useful endophenotypes for genetic studies if they share genetic sources of variation with the outcome, for example, with all-cause mortality. Australian adult study participants who had reported their parental survival information were included in the study: 14,169 participants had polygenic risk scores (PRS) from genotyping and up to 13,365 had biomarker results. We assessed associations between participants' biomarker results and parental survival, and between biomarker results and eight parental survival PRS at varying -value cut-offs. Survival in parents was associated with participants' serum bilirubin, C-reactive protein, HDL cholesterol, triglycerides and uric acid, and with LDL cholesterol for participants' fathers but not for their mothers. PRS for all-cause mortality were associated with liver function tests (alkaline phosphatase, butyrylcholinesterase, gamma-glutamyl transferase), metabolic tests (LDL and HDL cholesterol, triglycerides, uric acid), and acute-phase reactants (C-reactive protein, globulins). Association between offspring biomarker results and parental survival demonstrates the existence of familial effects common to both, while associations between biomarker results and PRS for mortality favor at least a partial genetic cause of this covariation. Identification of genetic loci affecting mortality-associated biomarkers offers a route to the identification of additional loci affecting mortality.
Genetic Specificity of Hippocampal Subfield Volumes, Relative to Hippocampal Formation, Identified in 2148 Young Adult Twins and Siblings.
Hansell NK, Strike LT, van Eijk L … +6 more , O'Callaghan V, Martin NG, de Zubicaray GI, Thompson PM, McMahon KL, Wright MJ
Twin Res Hum Genet · 2022 Jun · PMID 35791873 · Publisher ↗
The hippocampus is a complex brain structure with key roles in cognitive and emotional processing and with subregion abnormalities associated with a range of disorders and psychopathologies. Here we combine data from two...
The hippocampus is a complex brain structure with key roles in cognitive and emotional processing and with subregion abnormalities associated with a range of disorders and psychopathologies. Here we combine data from two large independent young adult twin/sibling cohorts to obtain the most accurate estimates to date of genetic covariation between hippocampal subfield volumes and the hippocampus as a single volume. The combined sample included 2148 individuals, comprising 1073 individuals from 627 families (mean age = 22.3 years) from the Queensland Twin IMaging (QTIM) Study, and 1075 individuals from 454 families (mean age = 28.8 years) from the Human Connectome Project (HCP). Hippocampal subfields were segmented using FreeSurfer version 6.0 (CA4 and dentate gyrus were phenotypically and genetically indistinguishable and were summed to a single volume). Multivariate twin modeling was conducted in OpenMx to decompose variance into genetic and environmental sources. Bivariate analyses of hippocampal formation and each subfield volume showed that 10%-72% of subfield genetic variance was independent of the hippocampal formation, with greatest specificity found for the smaller volumes; for example, CA2/3 with 42% of genetic variance being independent of the hippocampus; fissure (63%); fimbria (72%); hippocampus-amygdala transition area (41%); parasubiculum (62%). In terms of genetic influence, whole hippocampal volume is a good proxy for the largest hippocampal subfields, but a poor substitute for the smaller subfields. Additive genetic sources accounted for 49%-77% of total variance for each of the subfields in the combined sample multivariate analysis. In addition, the multivariate analyses were sufficiently powered to identify common environmental influences (replicated in QTIM and HCP for the molecular layer and CA4/dentate gyrus, and accounting for 7%-16% of total variance for 8 of 10 subfields in the combined sample). This provides the clearest indication yet from a twin study that factors such as home environment may influence hippocampal volumes (albeit, with caveats).
India's Opportunities and Challenges in Establishing a Twin Registry: An Unexplored Human Resource for the World's Second-Most Populous Nation.
Dhar R, Rana S, Srivastava TP … +6 more , Nayek A, Sharma JB, Kaur D, Kalari KR, Singh H, Karmakar S
Twin Res Hum Genet · 2022 Jun · PMID 35786423 · Publisher ↗
Nature and nurture have always been a prerogative of evolutionary biologists. The environment's role in shaping an organism's phenotype has always intrigued us. Since the inception of humankind, twinning has existed with...
Nature and nurture have always been a prerogative of evolutionary biologists. The environment's role in shaping an organism's phenotype has always intrigued us. Since the inception of humankind, twinning has existed with an unsettled parley on the contribution of nature (i.e. genetics) versus nurture (i.e. environment), which can influence the phenotypes. The study of twins measures the genetic contribution and that of the environmental influence for a particular trait, acting as a catalyst, fine-tuning the phenotypic trajectories. This is further evident because a number of human diseases show a spectrum of clinical manifestations with the same underlying molecular aberration. As of now, there is no definite way to conclude just from the genomic data the severity of a disease or even to predict who will get affected. This greatly justifies initiating a twin registry for a country as diverse and populated as India. There is an unmet need to set up a nationwide database to carefully curate the information on twins, serving as a valuable biorepository to study their overall susceptibility to disease. Establishing a twin registry is of paramount importance to harness the wealth of human information related to the biomedical, anthropological, cultural, social and economic significance.
Trends in Dizygotic and Monozygotic Spontaneous Twin Births During the Period 2007-2017 in Lombardy, Northern Italy: A Population-Based Study.
Esposito G, Dalmartello M, Franchi M … +4 more , Mauri PA, Cipriani S, Corrao G, Parazzini F
Twin Res Hum Genet · 2022 Jun · PMID 35765814 · Publisher ↗
In this study, we analyzed the estimated frequency of monozygotic (MZ) and dizygotic (DZ) spontaneous twins in Lombardy during the period 2007-2017. This is a population-based study using the regional healthcare utilizat...
In this study, we analyzed the estimated frequency of monozygotic (MZ) and dizygotic (DZ) spontaneous twins in Lombardy during the period 2007-2017. This is a population-based study using the regional healthcare utilization databases of the Lombardy Region. The total number of spontaneous twin deliveries, in separate strata of like and unlike sex, was obtained. Moreover, estimates of DZ and MZ twin births were calculated using Weinberg's method. The standardized rates (SRs), adjusted for maternal age, of DZ and MZ twin births were computed according to calendar period. The twinning rates were calculated among strata of parity and maternal age. Finally, DZ:MZ ratio was calculated. Among the 734,278 spontaneous deliveries, 9176 (12.5 out of 1000 births) couples of twins were identified. In the three periods considered (i.e. 2007-2010, 2011-2014 and 2015-2017), no trend in the SRs of MZ twins was observed, respectively 0.41 (95% CI [0.40, 0.43]), 0.43 (95% CI [0.42, 0.45]) and 0.43 (95% CI[0.42, 0.45]). Differently, a slightly decreasing trend was observed in DZ twins SRs, respectively 0.87 (95% CI [0.84, 0.89]), 0.81 (95% CI [0.79, 0.83]), and 0.78 (95% CI [0.76, 0.80]). As concerns parity and maternal age, the rate of DZ twin births was consistently higher in nulliparae women aged 35 years or more. In our cohort, despite the increase of maternal age, a decline of spontaneous twin births emerged, especially due to the downward trend of DZ twins.
Reared-Apart and Reunited: Extraordinary Dynamics/Twin Research Reviews: Twin Bereavement and Lifespan Associations; Identifying Novel Mutations in Twins; Parenting Premature Multiples; Conjoined Twins in Cross-Cultural Context/In the News: Madeline Albright, Mother of Twins, Passes Away; Identical Twin Songwriters Compose New Musical; Visually Impaired Twin Skiers; Identical Twin Brothers Undergo Heart Transplants; Naming the Genain Quadruplets.
Segal NL
Twin Res Hum Genet · 2022 Jun · PMID 35757955 · Publisher ↗
The focus of this article is on insights gained from the extraordinary dynamics that took place between a pair of reunited monozygotic female twins from Greece. Topics include visualizing the co-twin prior to meeting, th...
The focus of this article is on insights gained from the extraordinary dynamics that took place between a pair of reunited monozygotic female twins from Greece. Topics include visualizing the co-twin prior to meeting, the unique love and attraction between the twins, a mother's response to discovering her child's cotwin and the challenges posed by insufficient kinship categories. The following section of this article surveys four recent twin research reports. They include Bereavement and Lifespan Associations; Novel Mutations in Twins; Parenting Premature Multiples; and Conjoined Twins. The final part of this article presents interesting and informative news about twins from popular sources. The topics covered are the passing of Madeline Albright (Secretary of State and mother of twins); identical twin songwriters; visually impaired twin and sibling skiiers; identical twin brothers who both received heart transplants; and the naming of the Genain quadruplets.
Neonatal Outcome in Twin-to-Twin Transfusion Syndrome Treated with Fetoscopic Laser Surgery.
Lopriore EA, Slaghekke F, Verweij EJ … +3 more , Haak MC, Middeldorp AJM, Lopriore E
Twin Res Hum Genet · 2022 Feb · PMID 35644997 · Publisher ↗
The aim of this study was to describe the neonatal management and outcome in monochorionic twins with twin-to-twin transfusion syndrome (TTTS) not treated with fetoscopic laser surgery. All consecutive live-born neonates...
The aim of this study was to describe the neonatal management and outcome in monochorionic twins with twin-to-twin transfusion syndrome (TTTS) not treated with fetoscopic laser surgery. All consecutive live-born neonates with TTTS managed at our center between 2002 and 2021 were included in this retrospective study. Neonatal outcome was assessed in 44 twin pairs with TTTS not treated with laser (nonlaser group) compared to a control group of 88 twin pairs with TTTS successfully treated with laser (laser group), matched for gestational age at birth. Primary outcome was adverse neonatal outcome, a composite outcome including neonatal mortality or severe neonatal morbidity. The incidence of adverse neonatal outcome in the nonlaser group and laser group was 30% (26/88) and 11% (19/176), respectively (relative risk = 3.46, 95% CI [1.79, 6.71]). In the nonlaser group, 11% had necrotizing enterocolitis (vs. 2% in the laser group) and 24% had hypotension (vs. 10% in the laser group). Recipients in the nonlaser group had, compared to recipients in the laser group, significantly more severe cerebral injury (18% vs. 5%) and more polycythemia at birth (21% vs. 1%). Donors in the nonlaser group had, compared to donors in the laser group, more severe growth restriction (71% vs 42%), renal failure (11% vs 1%), and anemia at birth (25% vs. 7%). Thus, the risk for neonatal mortality and/or severe morbidity is three-fold higher in TTTS not treated with laser than in TTTS treated with laser, which highlights the fact that these neonates with TTTS are very sick at birth, requiring accurate and prompt intensive treatment.
ErbB Signaling Pathway Genes Are Differentially Expressed in Monozygotic Twins Discordant for Sports-Related Concussion.
Stahl TJ, Palli R, Gill JM … +9 more , Saionz EL, Bogner-Flatz V, Cheetham-West A, Merchant-Borna K, Pham DL, Strike L, Wright MJ, Thompson P, Bazarian JJ
Twin Res Hum Genet · 2022 Apr · PMID 35616238 · Publisher ↗
Transcriptional changes involved in neuronal recovery after sports-related concussion (SRC) may be obscured by inter-individual variation in mRNA expression and nonspecific changes related to physical exertion. Using a c...
Transcriptional changes involved in neuronal recovery after sports-related concussion (SRC) may be obscured by inter-individual variation in mRNA expression and nonspecific changes related to physical exertion. Using a co-twin study, the objective of this study was to identify important differences in mRNA expression among a single pair of monozygotic (MZ) twins discordant for concussion. A pair of MZ twins were enrolled as part of a larger study of concussion biomarkers among collegiate athletes. During the study, Twin A sustained SRC, allowing comparison of mRNA expression to the nonconcussed Twin B. Twin A clinically recovered by Day 7. mRNA expression was measured pre-injury and at 6 h and 7 days postinjury using Affymetrix HG-U133 Plus 2.0 microarray. Changes in mRNA expression from pre-injury to each postinjury time point were compared between the twins; differences >1.5-fold were considered important. Kyoto Encyclopedia of Genes and Genomes identified biologic networks associated with important transcripts. Among 38,000 analyzed genes, important changes were identified in 153 genes. The ErbB (epidermal growth factor receptor) signaling pathway was identified as the top transcriptional network from pre-injury to 7 days postinjury. Genes in this pathway with important transcriptional changes included epidermal growth factor (2.41), epiregulin (1.73), neuregulin 1 (1.54) and mechanistic target of rapamycin (1.51). In conclusion, the ErbB signaling pathway was identified as a potential regulator of clinical recovery in a MZ twin pair discordant for SRC. A co-twin study design may be a useful method for identifying important gene pathways associated with concussion recovery.
Age at Separation of Twin Pairs in the FinnTwin12 Study.
Wang Z, Whipp A, Heinonen-Guzejev M … +1 more , Kaprio J
Twin Res Hum Genet · 2022 Apr · PMID 35603696 · Publisher ↗
Living in the same household exposes family members to shared environments and may be reflected in estimates of shared environment in twin analyses. The age at the separation of cotwins in a twin pair marks the end of su...
Living in the same household exposes family members to shared environments and may be reflected in estimates of shared environment in twin analyses. The age at the separation of cotwins in a twin pair marks the end of such shared exposure, and the age of separation is commonly self-reported in studies. The objective of the study was to summarize the age at separation from residential records and use it to validate with self-reported separation status and age at the third and fourth wave of data collection in the FinnTwin12 cohort. Age at separation was generated from the address information, linking it to the Finnish Population information system since birth. Descriptive statistics by sex and zygosity are presented. The mean age at separation from residential records was 20.36 years old. Women separated earlier than men and dizygotic pairs earlier than monozygotic pairs. We also calculated the sensitivity and specificity with the self-reported separation status at waves 3 and 4, and interrater reliability with the self-reported separation age at wave 4. Age at separation from residential records had a relatively poor agreement with the self-report. This work enables us to use a more precise and objective measure for the shared environment in future twin studies.
Twins' Continuing Tales: New Evidence Reshapes Thinking/Appreciation and Recognition: Honoring Colleagues, Honoring Twins; Remembering Colleagues, Remembering Twins / In the Media: Ukrainian Twins in Wartime; Twins Born in Different Years; Identical Twin Surrogate; A Quaternary Family; Abducted Twins in Serbia.
Segal NL
Twin Res Hum Genet · 2022 Apr · PMID 35593091 · Publisher ↗
Twin research proceeds at a rapid pace, with new findings constantly modifying our knowledge and thoughts about many issues. In the present article, this concept is applied to the writing of books and articles about twin...
Twin research proceeds at a rapid pace, with new findings constantly modifying our knowledge and thoughts about many issues. In the present article, this concept is applied to the writing of books and articles about twins, with special emphasis on the author's recent experience. My lead essay in most contributions to the News, Views and Comment section of this journal is usually followed by a review of current research findings; however, significant events necessitated a departure from this format. At this time, it is important to both honor and remember colleagues and twins, both past and present. The final entry in this article highlights media events that variously pose biological and social implications for our field. They include the hardships of Ukrainian twins during wartime; twins born in different years; identical twin surrogacy, a quaternary family and abducted twins in Serbia.
The Heritability of Twinning in Seven Large Historic Pedigrees.
Duffy DL, Martin NG
Twin Res Hum Genet · 2022 Apr · PMID 35593089 · Publisher ↗
It is widely recognized that dizygotic twinning (DZT) runs in families, but estimates of heritability from twin and family data are remarkably scarce and vary considerably. Here, we traced seven large, sometimes historic...
It is widely recognized that dizygotic twinning (DZT) runs in families, but estimates of heritability from twin and family data are remarkably scarce and vary considerably. Here, we traced seven large, sometimes historical, multigeneration pedigrees from West Africans, fin de siècle French Jews, Canadians (two pedigrees), and the French royal family, in which twin births were recorded. We estimated heritability of twinning (of all types) as zygosity information was not available, diluting the true DZT heritability by a third or so. The estimates in the range 8-20% are remarkably consistent across time (8-19 generations) and ethnicities and also consistent with twin and family estimates.
Abstracts for the 36th Conference of the Japan Society for Twin Studies, 22 January 2022.
Twin Res Hum Genet · 2022 May · PMID 35578155 · Publisher ↗
Abstract loading — click title to view on PubMed.
Doppler Waveform Analysis of Intertwin Venous Blood Flow in Twin Reversed Arterial Perfusion (TRAP) Sequence with a Rudimentary Heart.
Konno H, Murakoshi T
Twin Res Hum Genet · 2022 Apr · PMID 35550237 · Publisher ↗
Twin reversed arterial perfusion (TRAP) sequence is a rare anomaly in 1% of monochorionic twin pregnancies. Few TRAP sequence cases have a rudimentary heart with cardiac motion in the acardiac twins. Herein, we investiga...
Twin reversed arterial perfusion (TRAP) sequence is a rare anomaly in 1% of monochorionic twin pregnancies. Few TRAP sequence cases have a rudimentary heart with cardiac motion in the acardiac twins. Herein, we investigated the venous Doppler waveform in two cases of TRAP sequence with a rudimentary heart with cardiac motion in the acardiac twin. Although both cases had veno-venous anastomoses, the venous Doppler waveforms of the umbilical vein differed. A comparison of the characteristics of the cases indicated that the existence of a ductus venosus, or greater heart pulse power, in the acardiac twin might impact the venous Doppler waveform in the pump twin.
Heritability of Age at Menarche in Nigerian Adolescent Twins.
Hur YM, Ra JM
Twin Res Hum Genet · 2022 Feb · PMID 35535435 · Publisher ↗
Heritability of age at menarche (AAM) in African populations remains largely unknown. A question on AAM was given to 1803 [454 monozygotic (MZ), 823 same-sex dizygotic (DZ), and 526 female members of opposite sex] adoles...
Heritability of age at menarche (AAM) in African populations remains largely unknown. A question on AAM was given to 1803 [454 monozygotic (MZ), 823 same-sex dizygotic (DZ), and 526 female members of opposite sex] adolescent twins attending public schools in Lagos State, Nigeria. The age range of the sample was 12-18 years, with a mean (SD) of 14.57 (±1.70) years. The data included 905 missing cases consisting of those who had not experienced menarche and did not recall AAM. Missing values were imputed using the Expectation-Maximization algorithm. Kaplan-Meier analysis based on the imputed data yielded 13.23 years [95% CI [13.18, 13.28] for the mean and 13.00 years [95% CI [12.96, 13.04] for the median of AAM. Twin correlation and model-fitting analyses were performed on the basis of those who reported AAM (MZ = 82 complete pairs and 38 cotwin missing cases; DZ = 157 complete pairs and 99 cotwin missing cases). Maximum likelihood MZ and DZ twin correlations for AAM were .63 (95% CI [.48, .74]) and .33 (95% CI [.19, .45]) respectively. Model-fitting analyses indicated that 58% (95% CI [46, 67]) of the variance of AAM was associated with additive genetic influences with the remaining variance, 42% (33-54) being due to nonshared environmental influences including measurement error. The heritability estimate found in this study was within the range of those found in Asian and Western twin samples.
Genetically Adjusted Propensity Score Matching: A Comparison to Discordant MZ Twin Models.
Silver IA, Liu H, Nedelec JL
Twin Res Hum Genet · 2022 Feb · PMID 35506340 · Publisher ↗
Discordant monozygotic (MZ) twin methodologies are considered one of the foremost statistical approaches for estimating the influence of environmental factors on phenotypic variance. Limitations associated with the disco...
Discordant monozygotic (MZ) twin methodologies are considered one of the foremost statistical approaches for estimating the influence of environmental factors on phenotypic variance. Limitations associated with the discordant MZ twin approach generates an inability to estimate particular relationships and adjust estimates for the confounding influence of gene-nonshared environment interactions. Recent advancements in molecular genetics, however, can provide the opportunity to address these limitations. The current study reviews an alternative technique, genetically adjusted propensity scores (GAPS) matching, that integrates observed genetic and environmental information to adjust for the confounding of these factors in nonkin individuals. Simulations and a real data example were used to compare the GAPS matching approach to the discordant MZ twin method. Although the results of the simulated comparisons demonstrated that the discordant MZ twin approach remains the more robust statistical technique to adjust for shared environmental and genetic factors, GAPS matching - under certain conditions - could represent a viable alternative when MZ twin samples are unavailable. Overall, the findings suggest that GAPS matching can potentially provide an alternative to the discordant MZ twin approach when limited variation exists between identical twin pairs. Moreover, the ability to adjust for gene-nonshared environment interactions represents a potential advancement associated with the GAPS approach. The limitations of the approach, as well as polygenic risk scores, are also discussed.
Compound Heterozygous Mutations Presented with Quadriparesis and Menopause. A Case Report.
Noorian S, Mohammadpoor Nami S, Nouri Ghonbalani Z … +1 more , Mohammadian Khonsari N
Twin Res Hum Genet · 2022 Apr · PMID 35499102 · Publisher ↗
Mitochondrion regulates cellular metabolism with the aid of its respiratory complexes; any defect within these complexes can result in mitochondrial malfunction and various conditions. One such mutation can occur in , re...
Mitochondrion regulates cellular metabolism with the aid of its respiratory complexes; any defect within these complexes can result in mitochondrial malfunction and various conditions. One such mutation can occur in , resulting in mitochondrial DNA depletion syndrome. It should be noted that the pattern of inheritance of this syndrome is autosomal recessive. However, we present a case with compound heterozygous mutations within this gene resulting in disease. An 18-year-old female was referred to our clinic due to menopause with a medical history of hearing loss, spasticity, hypotonia and quadriparesis. The child's birth and development were uneventful until the initiation of movement reduction and hypotonia when she was 12 months old. Afterward, the hypotonia progressed to quadriparesis and spasticity throughout the years. Our patient became completely quadriplegic up to the age of 3 and became completely deaf at 10. Her puberty onset was at the age of 9, and no significant event took place until she was 17 years old when suddenly her periods, which were regular until that time, became irregular and ceased after a year; hence, a thorough evaluation began, but similar to her previous evaluations all tests were insignificant. Nonetheless, we suspected an underlying metabolic or genetic defect; thus, we ordered a whole-exome sequencing (WES) workup and found simultaneous heterozygous mutations within , and genes that could explain her condition. When all other tests fail, and we suspect an underlying genetic or metabolic cause, WES can be of great value.
Lindon Eaves: A Personal Memoir.
Martin N
Twin Res Hum Genet · 2022 Apr · PMID 35485774 · Publisher ↗
Abstract loading — click title to view on PubMed.
Who Believes in the Species? Three-Factor Structure and Heritability of Generativity.
Wang W, Zakharin M, Bates TC
Twin Res Hum Genet · 2022 Feb · PMID 35466909 · Publisher ↗
Erikson asked what makes some people care for the future of the species and others not, calling this 'generativity vs. stagnation'. In three studies, we addressed structure of this trait and its heritability. Study 1 (N...
Erikson asked what makes some people care for the future of the species and others not, calling this 'generativity vs. stagnation'. In three studies, we addressed structure of this trait and its heritability. Study 1 (N = 1570), using structural models of the Loyola Generativity Scale , revealed three correlated factors consisting of (1) Establishing and aiding the next generation; (2) Maintaining the world; and (3) Symbolic immortality through a positive legacy. Study 2 (N = 311) successfully replicated this structure in an independent UK sample. Study 3 tested genetic and environmental influences on generativity. All three factors showed significant and substantial heritable influence. A general factor was required, which was also heritable. In resolving previous uncertainty over the transmission of generativity across generations, shared environmental transmission models fit poorly. Substantial unique environmental effects suggest strong cultural impacts on concern for the species. Generativity researchers may usefully adopt this three-factor scoring system, allowing research on the predictive power of each component of generativity as well as molecular genetic or biological studies.
Social Adversity Reduces Polygenic Score Expressivity for General Cognitive Ability, but Not Height.
Peñaherrera-Aguirre M, Woodley MA, Sarraf MA … +1 more , Beaver KM
Twin Res Hum Genet · 2022 Feb · PMID 35393928 · Publisher ↗
It has been hypothesized that even 'perfect' polygenic scores (PGSs) composed of only causal variants may not be fully portable between different social groups owing to gene-by-environment interactions modifying the expr...
It has been hypothesized that even 'perfect' polygenic scores (PGSs) composed of only causal variants may not be fully portable between different social groups owing to gene-by-environment interactions modifying the expression of relevant variants. The impacts of such interactions involving two forms of social adversity (low socioeconomic status [SES] and discrimination) are examined in relation to the expressivity of a PGS for educational attainment composed of putatively causal variants in a large, representatively sampled and genotyped cohort of US children. A relatively small-magnitude Scarr-Rowe effect is present (SES × PGSEDU predicting General Cognitive Ability [GCA]; sR = .02, 95% CI [.00, .04]), as is a distinct discrimination × PGSEDU interaction predicting GCA (sR = -.02, 95% CI [-.05, 00]). Both are independent of the confounding main effects of 10 ancestral principal components, PGSEDU, SES, discrimination and interactions among these factors. No sex differences were found. These interactions were examined in relation to phenotypic and genotypic data on height, a prospectively more socially neutral trait. They were absent in both cases. The discrimination × PGSEDU interaction is a co-moderator of the differences posited in modern versions of Spearman's hypothesis (along with shared environmentality), lending support to certain environmental explanations of those differences. Behavior-genetic analysis of self-reported discrimination indicates that it is nonsignificantly heritable (h2 = .027, 95% CI [-.05, .10]), meaning that it is not merely proxying some underlying source of heritable phenotypic variability. This suggests that experiences of discrimination might stem instead from the action of purely social forces.
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