Behavior Genetics最新文献

Globally, most children and adolescents live in low- and middle-income (LAMI) countries. Despite the high and under-recognized mental health burden in these settings, there is little systematic research to inform cost-effective mental health interventions. Identifying causal risk and protective mechanisms is important to inform such interventions. Longitudinal genetically informative designs can help identify potentially causal environmental mechanisms in the etiology of childhood psychopathology but few have been carried out in LAMI settings. We tested the feasibility of a twin-family study in a semi-urban setting in South-Western Nigeria. We recruited 320 family units, each comprising at least one parent and both twins aged 2.5-5.9 (x̄ = 4.0 ± 0.92) years from two towns using five strategies: direct and indirect contacts, radio adverts, cluster sampling (based on local administrative units) and snowball sampling. Participants were asked about their willingness to participate in future research including providing biological samples. These were supplemented with participant engagement activities before and after data collection. Snowball sampling was the most effective strategy while cluster sampling was the least effective (recruiting 46.3% and 8.3% of participants, respectively). Direct contacts and cluster sampling appeared prone to excluding under-represented participants. A large proportion of the participants (98-99%) were willing to participate in future studies. Challenges included grant administration (finance and ethical priorities) and desirability bias. Twin research is feasible in LAMI sub-Saharan Africa, with snowball sampling being an efficient means of recruiting a diverse sample. Participant involvement and engagement is useful to inform the execution of genetically-informative research in a LAMI context.

Reducing sugar intake is a key component of global health policies and dietary guidelines. However, individuals vary substantially in sweet-liking, commonly characterized by sweet-liking status (extreme sweet-likers, moderate sweet-likers, and sweet-dislikers), yet the heritability of these categories remains unexplored. Monozygotic and dizygotic twins from Finland (FinnTwin12; n = 468; 60% female, aged 21-24) and the UK (TwinsUK; n = 967; 90% female, aged 18-81) rated their liking and perceived intensity of a 20% (w/v) sucrose solution, reported their liking and consumption-frequency of food and beverages and completed additional behavioral, eating and personality measures. We estimated the contribution of additive genetic (A), nonadditive genetic (D), shared (C), and unshared environmental factors (E) in the variance and covariance of sweet-liking (defined ordinally through sweet-liking status and continuously) with related traits to see if they share similar proportions of genetic and environmental factors. Model-fitting indicated 30-48% of the variability in sweet-liking was attributed to (A) additive genetic factors and 52-70% to (E) environmental exposures not shared by siblings. Importantly, such AE models consistently fit best, regardless of sex, cohort, or sweet-liking assessment method. Broadly, correlations between sweet-liking and behavioral, eating, and personality measures were modest (-0.19 to 0.21), mostly positive and largely driven by shared genetic rather than environmental factors, with the strongest relationship seen for reported liking, consumption-frequency and craving for sweet foods. We demonstrate that unshared environment modulates individual differences in sweet-liking alongside a substantial genetic component that is partly shared with reported liking, consumption-frequency and craving for sweet foods.

Whether education modifies genetic influences on cognition has not been fully explored, especially in non-European populations. Using the older adult cohort from the Taiwan Biobank of East Asian populations, this study aimed to investigate the modifying effect of education on the association of the apolipoprotein E (APOE) ε4 allele and polygenic scores (PGS) for Alzheimer's disease (PGS_AD), cognitive performance (PGS_CP), education attainment (PGS_EA), and schizophrenia (PGS_SCZ) with cognitive ability. Participants aged > 60 years were included in this cohort study. The Mini-Mental State Examination (MMSE) was used for cognitive assessment of 27,343 individuals at baseline (mean age: 63.57 years), and follow-up data were available for 6,273 participants. Linear regression models were employed to examine the association between genetic factors and baseline MMSE scores and MMSE decline and further stratified by education to test the modifying effect. The APOE ε4 allele, PGS_AD, PGS_CP, PGS_EA, and PGS_SCZ were associated with baseline MMSE but not MMSE decline. The positive effects of the PGS_CP and PGS_EA on baseline MMSE, and negative effect of the PGS_SCZ on baseline MMSE and MMSE decline were higher for individuals with lower education. This study demonstrated the transferability of European-derived PGSs to older community samples of East Asian populations. Education mitigates specific genetic effects on cognition, which supports and extends cognitive reserve theory. Promoting cognitive health in older adults by extending education is of importance, especially for populations with higher genetic predispositions and lower education attainment.

Despite significant advances in pre- and postnatal care over the last century, adverse pregnancy related events still occur frequently. We used Mendelian randomisation (MR) to investigate potential causal effects of the mother's and fetal blood proteome on pregnancy related outcomes including birthweight, placental weight, preeclampsia, and sporadic miscarriage. We generated a list of genetic instruments to act as proxies for plasma proteins by combining two recent large protein GWAS (4719 proteins N = 35,559 individuals; 4775 proteins N = 10,708 individuals). We identified 1724 proteins with valid cis-pQTLs for use as genetic instruments. We identified evidence for causal relationships (MR Bonferroni corrected p_Bonferroni < 2.90 × 10^-5) involving fetal effects and/or maternal effects on birthweight and preeclampsia. Increased levels of PSG7 and BCMA and decreased levels of VLCAD, INHBB, and PLCG1 in the fetal circulation were potentially causal for increased birthweight. Similarly, increased levels of LIMA1 and decreased levels of VLCAD, FBLN3, and galectin-4 in the maternal circulation were potentially causal for increased birthweight. Decreased levels of SERPINE2 and SIGLEC6 were potentially causal for increased risk of preeclampsia. We did not find any significant effects of proxied maternal or fetal proteins on placental weight or sporadic miscarriage, perhaps due to the smaller size of their GWAS meta-analyses. Our results implicate several proteins that may be involved in the aetiology of perinatal phenotypes that will need to be replicated in independent datasets.

Asian residents frequently have a higher percentage of body fat in comparison to individuals with European ancestry, which increases their susceptibility to metabolic diseases. This study aimed to explore the familial resemblance patterns of different body adiposity indicators among 16,983 Tehranian adults. The intraclass correlation coefficients (ICC) of first-degree pairs were estimated to verify the family resemblance of the anthropometric and adiposity-related traits(ARTs) between family members and spouses. The family-based heritability of ARTs was estimated using the classical likelihood-based approach. Results were obtained based upon two scenarios: the first measurement scenario(FM), analysis of the individuals' ARTs in which they become ≥ 18 years for the first time, and the second scenario, which was based on the average of valid values of the ARTs for each individual(AM). There were 22,879 first-degree relative pairs (17,562 Parents/offspring and 5,137 siblings), 11,015 s-degree relative pairs, and 1,299 third-degree cousin pairs. The familial resemblance between sibling pairs of the same sex was significantly higher than those of other pairs, as for brother: brother pairs, ICC ranged between 19.6% (95%CI:0.118,0.274) for a body shape index(ABSI) to 35.6% (95%CI:0.280,0.432) for body mass index(BMI). Also, for sister: sister pairs, ICC varied from 19.4% (95%CI:0.116,0.272)(ABSI) to 36.6% (95%CI:0.280,0.432)(BMI). For spouses, ICC varied between 5.6% (95%CI:0.025,0.087) for waist-to-hip ratio(WHR) to 10.4% (95%CI:0.065,0.143) for waist circumference. Family-based heritability estimation ranged from 28% (SE = 0.026) for body adiposity index (BAI) to 43% (SE = 0.024) for BMI. The highest pairwise correlation between family members was shown to exist between siblings, and same-sex relative pairs have shown a relatively larger correlation than relative pairs with a different sex.

Literacy is a significant predictor of important life outcomes, such as attained education and income (Ritchie and Bates in Psychol Sci 24(7):1301-1308, 2013. 10.1177/0956797612466268) yet difficulties in reading and spelling are common. Both genetic and environmental factors account for individual differences in reading and spelling abilities (Little et al. in Behav Genet 47:52-76, 2017. 10.1007/s10519-016-9810-6), but there is some evidence that genetic factors can be moderated by environmental factors, many of which relate to differences in socio-economic status (SES). Studies in the US indicate that the heritability of reading and spelling abilities is higher in higher SES environments (Hart et al. in J Child Psychol Psychiatry 54(10):1047-1055, 2013. 10.1111/jcpp.12083; Friend et al. in Psychol Sci 19(11), 2008. 10.1111/j.1467-9280.2008.02213.x). Because countries differ in terms of factors such as education access and social mobility, the genetics (or simply gene) x SES interaction may or may not be present in other populations. Here, we utilise summary statistics from a well-powered genome-wide association study on dyslexia (Doust et al. in Nat Genet 54:1621-1629, 2022. 10.1038/s41588-022-01192-y) to construct polygenic indices in two cohorts of children/adolescents in Australia (N = 1315) and the United Kingdom (N = 5461 at age 7; N = 4306 at age 16), and test whether the effect of measured genes on variation in reading ability is moderated by family SES. While polygenic indices and SES both showed statistically significant effects on reading and spelling performance, no interaction effect was found. These results are contrary to results of some twin studies in the United States that have found an interaction effect. Yet, these findings support the broader literature on gene x SES interaction that mostly report no such interaction in other cognitive traits outside the United States suggesting country differences in how strongly SES relates to education quality.