Genetic and Environmental Influences on Perceived Stress in South Korean Twins.

Researchers have proposed that culture significantly influences perceived stress (PS). To date, however, twin studies on PS have been conducted mostly in western, individualistic cultures, which demonstrate that PS due to controllable (personal) life events is more heritable than PS due to uncontrollable (network) life events. This study aimed to investigate genetic and environmental influences on PS in South Korean twins. South Korea practices a dominant collectivist culture. In total, 1372 twin individuals (mean age = 22.4 ± 2.5 years) completed an online survey on PS, which consisted of the scales, Friendship, Academic Stress, Future Career, Family Conflicts, and Family Financial Difficulties (FFD). Friendship, Academic Stress, and Future Career can be considered PS due to personal life events, and Family Conflict and FFD, PS due to network life events. The general sex-limitation model-fitting analysis revealed the absence of qualitative or quantitative sex differences in genetic and environmental influences. Specifically, additive genetic influences were predominant for Friendship (63%), Academic Stress (67%), and Future Career (57%) for both sexes, with the remaining variance attributable to nonshared environmental influences. In contrast, shared environmental influences were largest for Family Conflict (47% for both genders) and FFD (64% for males, 63% for females) with no significant genetic effects. Despite known cultural differences in the means and variances of PS, South Korean twins exhibited significant genetic effects in PS due to personal life events and large shared environmental effects in PS due to network life events, which is similar to western samples.

Common Genetic Influence on the Relationship Between Gaming Addiction and Attention Deficit Hyperactivity Disorder in Young Adults: A Twin Study.

Although the relationship between gaming addiction (GA) and attention deficit hyperactivity disorder (ADHD) is well established, the causal mechanism of this relationship remains ambiguous. We aimed to investigate whether common genetic and/or environmental factors explain the GA-ADHD relationship. We recruited 1413 South Korean adult twins (837 monozygotic [MZ], 326 same-sex dizygotic [DZ], and 250 opposite-sex DZ twins; mean age = 23.1 ± 2.8 years) who completed an online survey on GA and related traits. Correlational analysis and bivariate model-fitting analysis were conducted. Phenotypic correlation between GA and ADHD in the present sample was 0.55 (95% CI [0.51, 0.59]). Bivariate model-fitting analysis revealed that genetic variances were 69% (95% CI [64%, 73%]) and 68% (95% CI [63%, 72%]) for ADHD and GA respectively. The remaining variances (ADHD: 31%; GA: 32%) were associated with nonshared environmental variances, including measurement error. Genetic and nonshared environmental correlations between ADHD and GA were 0.68 (95% CI [0.62, 0.74]) and 0.22 (95% CI [0.13, 0.30]) respectively, which indicates that shared genes can explain 82% of the phenotypic correlation between ADHD and GA. Our study demonstrated that the ADHD-GA association was largely due to shared genetic vulnerability.

Family History of Twinning and Fertility Traits in Nigerian Mothers of Dizygotic Twins.

Familial twinning and fertility traits were investigated in Nigerian mothers of dizygotic (DZ) twins (MoDZT; N = 972) and controls (N = 525) who responded to our person-to-person interview, which included questions on pregnancy history and family history of DZ twinning. Controls were defined as women who are not twins themselves and do not have twins in their first-degree relatives. Over 95% of the participants were Yoruba. We found that Nigerian MoDZT had an average of 4.0 (±2.6) pairs of twins among their relatives, and of these, the prevalence of DZ twins was significantly higher than that of monozygotic (MZ) twins (45.9% vs. 25.8%). Controls had an average of 0.5 (±0.4) pairs, and over 95% of the controls had no twins in their relatives. These results suggest genetic influences on DZ twinning in Nigerians. MoDZT were significantly younger in their mean age at first child, and had higher parity than controls, suggesting increased fertility in MoDZT. As compared to mothers with a single set of twins, mothers (N = 130) with multiple sets had significantly more twins among their relatives (5.4 pairs vs. 3.7 pairs) and had their first twins at a younger age (28.4 vs. 30.7 years), indicating that mothers with multiple sets of twins might have higher genetic propensity for twinning associated with earlier age at twin pregnancy. Our findings argue for genomewide association studies for DZ twinning in Nigerians, and may help to develop intervention strategies to overcome infertility/subfertility problems.

Relationship between cognitive ability and emotional problems in the context of poverty: a Nigerian adolescent twin study.

Although previous studies have identified negative relationships between cognitive ability and emotional problems (EP), mechanism explaining these relationships remained unclear. This study evaluated two explanatory models using bivariate moderation model-fitting analysis in a twin design. The resilience model suggests that high cognitive ability decreases the risk of EP in adverse settings, and the scarring model suggests that EP symptoms lead to persistent cognitive deficits following onset. The Standard Progressive Matrices Plus (SPM) and EP scale were administered to a sample of 3,202 twins (mean age = 14.62 ± 1.74 years) attending public schools in Nigeria. The results of bivariate moderation model-fitting analyses only supported the resilience model. Moderation effects were not significant in the scarring model when genetic and environmental influences were incorporated. The best-fitting bivariate moderation model assuming the resilience model yielded a genetic correlation of - 0.57 (95% CI = - 0.40, - 0.84) with no significant environmental correlations. Moreover, the SPM moderated the environmental, not genetic, influences on EP, such that environmental influences were strong when protective factors were absent (low SPM) and weak when these were present (high SPM). These results indicate the need to develop targeted prevention and intervention strategies for EP in adolescents displaying low cognitive ability in deprived settings.

Secular Trends of Birth Weight in Twins and Singletons in South Korea from 2000 to 2020.

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.

Gene-environment interplays between family chaos and emotional problems among Nigerian adolescents: A twin study.

Gene-environment correlations and interactions for the relationship between emotional problems (EP) and family environment in adolescents in low- to middle-income countries (LMIC) have been rarely investigated. In total, 3207 adolescent twins aged 12-18 (Mean = 14.6 ± 1.73) years attending public schools in Lagos State in Nigeria completed measures of EP and Family Chaos (FC). Model-fitting analyses suggested that genetic and non-shared environmental influences on EP were 21% and 71%, respectively, and the corresponding estimates were 23% and 71% for FC. Shared environmental influences were not significant (8% and 6% respectively). Phenotypic correlation between EP and FC was .30 (95% CI = .27-.34), which was significantly influenced by genetic (A - 49%, 95% CI: 0.01-0.97) and non-shared environmental factors (E - 32%, 95% CI: 0.10-0.54). Shared environmental influences were not significant (C - 19%, 95% CI: -0.13 to 0.50). Moderation effects were significant whereby as FC increased, A on EP decreased (ßA = -0.07, 95% CI: -0.12 to -0.02) while E increased (ßE = 0.06, 95% CI: 0.03-0.09). Our findings indicate that genetic and non-shared environmental risk factors may mediate the relationship between EP and FC, and that as FC increases, protective genetic influences on EP may be attenuated, whereas environmental influences may become stronger in adolescents in LMIC.

Heritability of Age at Menarche in Nigerian Adolescent Twins.

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.

Genetic and Environmental Influences on Vigorous Exercise in South Korean Adolescent and Young Adult Twins.

Twin studies of physical exercise for Asian twins are sparse. This study aimed to examine genetic and environmental influences on frequency of vigorous exercise (FVE) in South Korean twins, with a special emphasis on sex effects. Telephone interviews on FVE were administered to 1757 twins (mean age = 19.05 years, SD = 3.01 years). Tetrachoric correlations were significantly different between monozygotic (MZ) and dizygotic (DZ) twins in males (.40 vs. .12), but they were similar in females (.44 vs. .45), suggesting the importance of genetic factors in FVE in males and that of common environmental factors in females. A scalar sex-limitation model incorporating age as a modifier was applied to data. The results revealed that genetic, common and individual environmental influences did not vary significantly with age, but differed across two sexes, confirming twin correlational analyses. In the best-fitting model, additive genetic and individual environmental influences on FVE were, respectively, .35 (95% CI [.26, .39]) and .65 (95% CI [.61, .74]) in males, and common and individual environmental influences were, respectively, .45 (95% CI [.35, .53]) and .55 (95% CI [.47, .65]) in females. These results contrasted starkly with recent findings from a large sample of Chinese adult twins (age >18 years), in which most variance (≥95%) of vigorous physical activity was attributable to common environmental influences in both sexes. Replications in other Asian samples are clearly needed.

Changes in Multiple Birth Rates and Parental Demographic Factors in South Korea During the Last Four Decades: 1981-2019.

Over the previous decades, twinning rates worldwide have increased remarkably. This study aimed to describe changes in multiple birth rates and related demographic characteristics, such as maternal age and the level of education of parents in South Korea from 1981 to 2019. This study analyzed birth data obtained from the Korean Statistical Information Service. From 1981 to 2019, the total twinning rate increased from 5 to 22.5 pairs per 1000 births. This rapid increase was due to an increase in dizygotic twin births, which mainly occurred in mothers aged between 30 and 39 years. The average maternal age of multiples increased from 26.06 years in 1981 to 33.98 years in 2019, suggesting that a delay in childbearing contributed to the increase in the twinning rate. The percentage of mothers of multiples who completed a college or higher degree (CHD) increased by 1000% from 1981 to 2019, indicating that a sharp increase in the level of education of females in part explains the delay in childbearing. The percentages of individuals who completed a CHD were higher among parents of multiples than among those of singletons in recent years when public funding arrangements for fertility treatments were available. This result suggested that completion of higher education may be associated with increased use of assisted reproductive technology (ART) independent of the financial status of couples. Taken together, the analysis suggested that increased maternal age, ART and the increased number of females who completed CHD may be responsible for the remarkable increase in the rates of multiple births in South Korea in the last four decades.

Twin Study of the Relationship between Childhood Negative Emotionality and Hyperactivity/Inattention Problems.

The present study aimed to determine the genetic and environmental etiology of the association between childhood negative emotionality (NE) and hyperactivity/inattention problems (HIP) using South Korean elementary school twins (mean age = 10.19 years, SD = 1.79 years). Telephone interviews were given to mothers of 919 twins (229 monozygotic males: 112 pairs and 5 individuals; 148 dizygotic males: 73 pairs and 2 individuals; 180 monozygotic females: 87 pairs and 6 individuals; 103 dizygotic females: 50 pairs and 3 individuals; 259 opposite-sex dizygotic twins: 127 pairs and 5 individuals) to assess their children's NE and HIP. Consistent with prior studies, the phenotypic correlation between NE and the HIP was moderate (r = .29; 95% CI = .24, .34). Model-fitting analysis revealed that additive genetic and nonshared environmental influences on NE were .45 (95% CI [.34, .54]) and .55 (95% CI [.46, .66]), respectively, and that additive and nonadditive genetic, and nonshared environmental influences on HIP were .08 (95% CI [.03, .26]), .41 (95% CI [.21, .51]) and .51 (95% CI = .42, .61), respectively. In addition, the additive genetic correlation between NE and HIP was 1.0 (95% CI [.52, 1.00]), indicating that additive genetic factors are entirely shared between the two phenotypes. Nonadditive genetic influences were unique to HIP and not responsible for the NE-HIP association. Nonshared environmental correlation was significant but modest (re = .18, 95% CI [.06, .30]).

Clinical outcomes of prophylactic compression sutures for treatment of uterine atony during the cesarean delivery of twins.

BACKGROUND: Twin pregnancy has a high risk for developing uterine atony (UA). This study aimed to evaluate efficacy and clinical outcomes of prophylactic compression sutures to treat UA during twin cesarean section (CS). METHODS: All patient records of twin deliveries by CS after gestational age of 24 weeks in a large maternity hospital in South Korea between January 2013 and June 2018 were reviewed. Patients with monochorionic monoamniotic twins were excluded from data analysis. In total, 953 women were eligible for data analysis. RESULTS: Of the 953 patients, compression sutures were applied to 147 cases with postpartum bleeding that were refractory to uterine massage and uterotonics. Out of the 147, two patients (1.4%) proceeded to additional uterine artery ligation to achieve hemostasis, yielding a success rate of 98.6%. The rate of transfusion after the first 24 h of delivery in the suture group was not significantly different from that in the non-suture group, suggesting that both groups achieved hemostasis at an equal rate after the first 24 h of delivery. The difference in the operation time between the two groups was only 8.5 min. The rate of subsequent pregnancy among the patients who received compression sutures was 44.4%. CONCLUSIONS: Overall, our findings suggest that with early and fast implementation of compression sutures, UA can be treated in the setting of twin cesarean delivery without significantly increasing maternal morbidity.

Twin pregnancies with uterine fibroids are not at increased risk for obstetric complications: single center cohort study.

BACKGROUND: Twin pregnancies with uterine fibroid(s) (UFs) may not be at increased risk for obstetric complications compared to those without UFs. However, there was no reported comparison study with obstetric outcomes and complications of twin pregnancy after myomectomy. We aimed to compare the pregnancy outcomes in twin pregnancies with or without uterine fibroid(s), and also compared in patients with previous myomectomy history in Korean women. METHODS: A cohort of twin pregnancies delivered in a single institution between January 2011 and March 2019 were retrospectively analyzed. UFs group was defined by the presence of UFs during pregnancy (≥1 fibroid, measuring ≥2 cm or multiple fibroids regardless of the size). Previous myomectomy group included patients with history of abdominal or laparoscopic or hysteroscopic myomectomy of ≥1 fibroid, measuring ≥2 cm or multiple fibroids whatever the size. Patients with monochorionic monoamniotic twins, myoma less than 2 cm in size, missed abortion or intrauterine fetal death (IUFD) of one fetus before 14 weeks, history of previous conization, and uterine anomalies were excluded. Pregnancy outcomes and obstetric complications were compared. RESULT: A total 1388 patients were included in this study, 191 (13.8%) had UFs and 89 (6.4%) had a history of myomectomy. Maternal age was younger in non-UFs group and primiparity was more common in UFs group (p < 0.001, and p = 0.019). No significant differences were found in the gestational age at delivery (p = 0.657), delivery before 37 weeks (p = 0.662), delivery before 34 weeks (p = 0.340), and sum of birth weight of twin (p = 0.307). There were also no statistical differences in rates of obstetrical complications, such as preeclampsia, gestational diabetes mellitus, placenta previa, placenta abruption, cerclage, small for gestational age, IUFD, postpartum hemorrhage and peripartum transfusion or ICU care. These obstetrical outcomes and complications showed no statistical differences between UFs group and previous myomectomy group. CONCLUSION: In patients with twin pregnancies, the presence of UFs or history of previous myomectomy did not relate to negative effects on pregnancy outcomes and obstetrical complications.

Common Genetic Influences on Age at Pubertal Voice Change and BMI in Male Twins.

The present study aimed to explore secular trends in age at voice change (AVC), estimate heritability of AVC and investigate to what extent common genes influence the association between AVC and body mass index (BMI) in South Korean males. The sample of 955 male twins consisted of 241 pairs and 118 co-twin missing monozygotic (MZ) twins, 82 pairs and 50 co-twin missing dizygotic (DZ) twins and 141 male members of opposite-sex DZ twins who participated in telephone surveys in the South Korean Twin Registry. AVC was asked of twins during the surveys. The mean (SD) age of the sample was 18.92 (2.42) years (range: 16.00-29.25 years). The birth years of the twins were divided into two groups (1988-1993, 1994-2001). Kaplan-Meyer survival analyses were conducted to compute the mean age of AVC in the total sample as well as to test mean differences between the two birth cohorts. Maximum likelihood twin correlations and univariate and bivariate model-fitting analyses were performed. The mean AVC in the total sample was 14.19 (95% CI [14.09, 14.29]) years. The mean AVC significantly declined from 14.38 to 14.02 years from 1988 to 2001, confirming downward trends in AVC in recent years. Heritability for AVC was .59 (95% CI [.50, .67]), which was within the range reported in most Western twin studies. Although the phenotypic correlation between AVC and BMI was modest (r = -.14; 95% CI [-.07, -.21]), it was entirely mediated by common genes, similar to what has been found in females in prior twin studies. In conclusion, the present twin study underscores the importance of genetic influences on pubertal timing and its association with BMI in South Korean males.

Genetic and Environmental Influences on Cognitive Abilities in Extreme Poverty.

To improve global human capital, an understanding of the interplay of endowment across the full range of socioeconomic status (SES) is needed. Relevant data, however, are absent in the nations with the most abject poverty (Tucker-Drob & Bates, 2016), where the lowest heritability and strong effects of SES are predicted. Here we report the first study of biopsychosocial gene-environment interaction in extreme poverty. In a sub-Saharan sample of early teenage twins (N = 3192), we observed substantial (~30-40%) genetic influence on cognitive abilities. Surprisingly, shared environmental influences were similar to those found in adolescents growing in Western affluent countries (25-28%). G × SES moderation was estimated at a` = .06 (p = .355). Family chaos did not moderate genetic effects but did moderate shared environment influence. Heritability of cognitive abilities in extreme poverty appears comparable to Western data. Reduced family chaos may be a modifiable factor promoting cognitive development.

Religious Attendance Moderates the Environmental Effect on Prosocial Behavior in Nigerian Adolescents.

There is a growing body of literature linking religious attendance to prosocial behavior (PB). The main purposes of the present study were to estimate genetic and environmental influences on the frequency of religious attendance (FRA) and to explore whether and how FRA moderates genetic and/or environmental influences on PB. As part of the Nigerian Twin and Sibling Study, 2860 (280 monozygotic male, 417 monozygotic female, 544 dizygotic male, 699 dizygotic female, and 920 opposite-sex dizygotic) twins (mean age = 14.2 years; SD = 1.7 years; age range = 12-18 years) completed a questionnaire regarding FRA and a PB scale. Similar to the findings from western twin samples, FRA showed substantial shared environmental influences of 74% (95% CI = 69%, 78%), with absence of genetic effects. The phenotypic correlation between FRA and PB was modest but positive and significant (r = .12; p < .01), suggesting that PB is higher among more frequent attenders than among less frequent attenders. The results of gene-environment (G × E) interaction model-fitting analysis revealed that FRA changed individual environmental experiences rather than genetic effects on PB such that while genetic variance was stable, non-shared environmental variance declined, leading the total phenotypic variance of PB to decrease with increasing levels of religious attendance.

Heritability of Age at Menarche in South Korean Female Twins.

Genetic and environmental influences on age at menarche (AAM) have rarely been examined in Asian females. This study aimed to investigate the heritability of AAM in South Korean female twins. The AAM data from 1370 female twins (933 monozygotic [MZ] twins, 294 dizygotic [DZ] twins and 160 female members of opposite-sex DZ twins) born between 1988 and 2001 were analyzed. The age of the sample at the time of the assessment ranged from 16 to 28 years with a mean of 19.3 (SD = 2.2) years. The mean AAM in the total sample was 12.49 (SD = 1.41) years. Although the mean AAM decreased with increasing birth years, it levelled off in birth years 2000-2001. Maximum likelihood MZ and DZ twin correlations were 0.72 [95% CI (0.67, 0.76)] and 0.35 [95% CI (0.19, 0.50)], respectively. The results of model-fitting analysis indicated that the additive genetic and individual-specific environmental effects were 72% [95% CI (67%, 76%)] and 28% [95% CI (24%, 33%)], respectively. Neither nonadditive genetic nor shared environmental effects were significant.

Shared Genetic Etiology of Hwabyung (Anger Syndrome) and Somatization Symptoms in South Korean Adolescent and Young Adult Twins.

Somatization is known to be more prevalent in Asian than in Western populations. Using a South Korean adolescent and young adult twin sample (N = 1754; 367 monozygotic male, 173 dizygotic male, 681 monozygotic female, 274 dizygotic female and 259 opposite-sex dizygotic twins), the present study aimed to estimate heritability of somatization and to determine common genetic and environmental influences on somatization and hwabyung (HB: anger syndrome). Twins completed self-report questionnaires of the HB symptoms scale and the somatization scale via a telephone interview. The results of the general sex-limitation model showed that 43% (95% CI [36, 50]) of the total variance of somatization was attributable to additive genetic factors, with the remaining variance, 57% (95% CI [50, 64]), being due to individual-specific environmental influences, including measurement error. These estimates were not significantly different between the two sexes. The phenotypic correlation between HB and somatization was .53 (p < .001). The bivariate model-fitting analyses revealed that the genetic correlation between the two symptoms was .68 (95% CI [.59, .77]), while the individual-specific environmental correlation, including correlated measurement error, was .41 (95% CI [.34, .48]). Of the additive genetic factors of 43% that influence somatization, approximately half (20%) were associated with those related to HB, with the remainder being due to genes unique to somatization. A substantial part (48%) of individual environmental variance in somatization was unrelated to HB; only 9% of the environmental variance was shared with HB. Our findings suggest that HB and somatization have shared genetic etiology, but environmental factors that precipitate the development of HB and somatization may be largely independent from each other.

The South Korean Twin Registry.

The South Korean Twin Registry (SKTR) is an ongoing nationwide volunteer registry of South Korean twins and their families. Since its inception, from preschooler to young adult, twins have been registered with the SKTR and have demonstrated that relative influences of genetic and environmental factors explaining individual differences in various psychological, mental health and physical traits in South Koreans are similar to those found in many Western twin studies. Currently, studies at the SKTR focus on identification of the process of gene-by-environment interactions as well as developmental differences in genetic and environmental influences on psychological and mental health traits in South Koreans. This report provides a brief overview, recruitment strategies, current samples, zygosity assessment, measures and future directions of the SKTR.

Twin Family Registries Worldwide: An Important Resource for Scientific Research.

Much progress has been made in twin research since our last special issue on twin registries (Hur, Y.-M., & Craig, J. M. (2013). Twin Research and Human Genetics, 16, 1-12.). This special issue provides an update on the state of twin family registries around the world. This issue includes 61 papers on twin family registries from 25 countries, of which 3 describe consortia based on collaborations of several twin family registries. The articles included in this issue discuss the establishment and maintenance of twin registries, recruitment strategies, methods of zygosity assessment, research aims and major findings from twin family cohorts, as well as other important topics related to twin studies. The papers amount to approximately 1.3 million monozygotic, dizygotic twins and higher order multiples and their family members who participate in twin studies around the world. Nine new twin family registries have been established across the world since our last issue, which demonstrates that twin registers are increasingly important in studies of the determinants and correlates of complex traits from disease susceptibility to healthy development.

Genetic Similarity Assessment of Twin-Family Populations by Custom-Designed Genotyping Array.

Twin registries often take part in large collaborative projects and are major contributors to genome-wide association (GWA) meta-analysis studies. In this article, we describe genotyping of twin-family populations from Australia, the Midwestern USA (Avera Twin Register), the Netherlands (Netherlands Twin Register), as well as a sample of mothers of twins from Nigeria to assess the extent, if any, of genetic differences between them. Genotyping in all cohorts was done using a custom-designed Illumina Global Screening Array (GSA), optimized to improve imputation quality for population-specific GWA studies. We investigated the degree of genetic similarity between the populations using several measures of population variation with genotype data generated from the GSA. Visualization of principal component analysis (PCA) revealed that the Australian, Dutch and Midwestern American populations exhibit negligible interpopulation stratification when compared to each other, to a reference European population and to globally distant populations. Estimations of fixation indices (FST values) between the Australian, Midwestern American and Netherlands populations suggest minimal genetic differentiation compared to the estimates between each population and a genetically distinct cohort (i.e., samples from Nigeria genotyped on GSA). Thus, results from this study demonstrate that genotype data from the Australian, Dutch and Midwestern American twin-family populations can be reasonably combined for joint-genetic analysis.