Genome-wide association analysis on monozygotic twin-pairs offers a route to discovery of gene–environment interactions through testing for variability loci associated with sensitivity to individual environment/lifestyle. We present a genome-wide scan of loci associated with intra-pair differences in serum lipid and apolipoprotein levels. We report data for 1,720 monozygotic female twin-pairs from GenomEUtwin project with 2.5 million SNPs, imputed or genotyped, and measured serum lipid fractions for both twins. We found one locus associated with intra-pair differences in high-density lipoprotein cholesterol, rs2483058 in an intron of SRGAP2, where twins carrying the C allele are more sensitive to environmental factors (P = 3.98 × 10−8). We followed up the association in further genotyped monozygotic twins (N = 1,261), which showed a moderate association for the variant (P = 0.200, same direction of an effect). In addition, we report a new association on the level of apolipoprotein A-II (P = 4.03 × 10−8).

Background: Previous studies have found that child attention-deficit/hyperactivity disorder (ADHD) is associated with more parental marital problems. However, the reasons for this association are unclear. The association might be due to genetic or environmental confounds that contribute to both marital problems and ADHD. Method: Data were drawn from the Australian Twin Registry, including 1,296 individual twins, their spouses, and offspring. We studied adult twins who were discordant for offspring ADHD. Using a discordant twin pairs design, we examined the extent to which genetic and environmental confounds, as well as measured parental and offspring characteristics, explain the ADHD–marital problems association. Results: Offspring ADHD predicted parental divorce and marital conflict. The associations were also robust when comparing differentially exposed identical twins to control for unmeasured genetic and environmental factors, when controlling for measured maternal and paternal psychopathology, when restricting the sample based on timing of parental divorce and ADHD onset, and when controlling for other forms of offspring psychopathology. Each of these controls rules out alternative explanations for the association. Conclusion: The results of the current study converge with those of prior research in suggesting that factors directly associated with offspring ADHD increase parental marital problems.

Objectives: The aim of the present study was to examine the role of genetic and environmental factors in the phenotypic variance of bruxism in a large population-based cohort of young adult twins in Finland.

Methods: The material of the present study derives from the FinnTwin16 cohort study consisting of five birth cohorts of twin pairs born in 1975–1979 who completed a questionnaire (at mean age 24, range 23–27 years) with data on frequency of sleep-related bruxism in 2000–2002. We used quantitative genetic modeling, based on the genetic similarity of monozygotic and dizygotic twins, to estimate the most probable genetic model for bruxism, based on decomposition of phenotypic variance into components: additive genetic effects (A), dominant genetic effects (D), and non-shared environmental effects (E).

Results: On average, 8.7% experienced bruxism weekly, 23.4% rarely, and 67.9% never, with no significant gender difference (p = .052). The best fitting genetic model for bruxism was the AE-model. Additive genetic effects accounted for 52% (95% CI 0.41–0.62) of the total phenotypic variance. Sex-limitation model revealed no gender differences.

Conclusions: Genetic factors account for a substantial proportion of the phenotypic variation of the liability to sleep-related bruxism, with no gender difference in its genetic architecture.

Although the co-occurrence among symptoms of insomnia, fatigue, and depression has been frequently reported, the etiology of this co-occurrence remains poorly understood. A total of 3,758 adult female twins in the United Kingdom completed a mail-out survey including six questions concerning frequency and severity of symptoms of insomnia, fatigue, and depression. Correlations among the scores of the three symptoms ranged from 0.35 to 0.44. Among various multivariate models we tested, the common-pathway model explained the data best. In the best-fitting model, the common factor was explained approximately equally by genetic and unique environmental factors (49% and 51%, respectively). In addition to the common variance, there was a significant specific variance in each symptom, where unique environmental factors were much larger than genetic factors. These results imply that although there are shared genetic liabilities for the development of symptoms of depression, fatigue, and insomnia, it is environmental experiences that make etiological distinctions among three symptoms.

This study examined the link between sibling relationships and children's social adjustment by comparing twin siblings and siblings with different ages (singleton siblings), and clarified the role of reciprocity in sibling relationships on children's social development. Mothers of 58 monozygotic twin pairs, 48 dizygotic twin pairs, and 86 singleton sibling pairs reported their children's sibling relationships and social adjustment. This study showed that the effects of sibling relationships on the prosocial behaviors and conduct problems of each child are stronger for twins than for singleton siblings. Moreover, positivity toward one's sibling increased peer problems only among monozygotic twins. The opposite tendency was present among dizygotic twins and singleton siblings. This study suggests the importance for children's social development of having many interactions with siblings and establishing reciprocity in sibling relationships. Moreover, our results suggest that the quality of sibling relationships among monozygotic twins may be different from those among dizygotic twins and singleton siblings.

With the desire to assess genetic variation across the lifespan in large-scale collaborative projects, one question is whether inference of copy number (CN) is sensitive to the source of material for deoxyribonucleic acid (DNA) analysis (e.g., blood and buccal) and another question is whether CN is stable as individuals age. Here, we address these questions by applying Affymetrix 6.0 single nucleotide polymorphism (SNP) micro-arrays to 1,472 DNA samples from 710 individuals from the Netherlands Twin Register, including twin and non-twin individuals (372 with buccal and blood derived DNA and 388 with longitudinal data). Similar concordance for CN and genotype inference between samples from the same individual [or from the monozygotic (MZ) co-twins] was found for blood and buccal tissues. There was a small but statistically significant decrease in across-tissue concordance compared with concordance of samples from the same tissue type. No temporal effect was seen on CN variation from the 388 individuals sampled at two time points ranging from 1 to 12 years apart. The majority of our individuals were sampled at age younger than 20 years. Genotype concordance was very high (R2 > 99%) between co-twins from 43 MZ pairs. For 75 dizygotic (DZ) pairs, R2 was ≈65%. CN estimates were highly consistent between co-twins from MZ pairs for both deletions (R2 ≈ 90%) and duplications (R2 ≈ 86%). For DZ, these were similar for within-individual comparisons, but naturally lower between co-twins (R2 ≈ 50–60%). These results suggest that DNA from buccal samples perform as well as DNA from blood samples on the current generation of micro-array technologies.

Rates of twinning have risen dramatically over the last 30 years, from 1 in 53 births in 1980 to 1 in 30 births in 2009 (Martin et al. (January 2012). Three decades of twin births in the United States, 1980–2009. Atlanta, GA: Centers for Disease Control and Prevention, National Center for Health Statistics). This increase is largely attributable to increases in the use of fertility treatments (i.e., ovulation induction and in vitro fertilization) combined with delays in parenthood. Although this increase means that more twins are available for recruitment into twin studies, it also has potential consequences for the heritability estimates obtained in these studies. This study sought to evaluate this possibility, making use of the ongoing Michigan Twins Project (N = 7,261 families with twins aged 3–17 years), an arm of the Michigan State University Twin Registry. Results revealed that, on average, twins conceived via fertility treatments had lower rates of behavior problems than those conceived naturally, although these behavioral differences could be explained largely by demographic and socio-economic differences across the two types of twin families. Twin similarity did not meaningfully differ across fertility treatment status. We thus conclude that estimates of genetic and environmental influences obtained from twin studies over the last 10–15 years are more or less unaffected by the inclusion of twins conceived via fertility treatments in their samples.

Objective: To estimate the heritability of ambulatory blood pressure (BP), heart rate (HR), and beat-to-beat office BP and HR in an isolated, environmentally and genetically homogeneous Omani Arab population. Methods: Ambulatory BP measurements were recorded in 1,124 subjects with a mean age of 33.8 ± 16.2 years, using the auscultatory mode of the validated Schiller ambulatory BP Monitor. Beat-to-beat BP and HR were recorded by the Task Force Monitor. Heritability was estimated using quantitative genetic analysis. This was achieved by applying the maximum-likelihood-based variance decomposition method implemented in SOLAR software. Results: We detected statistically significant heritability estimates for office beat-to-beat, 24-hour, daytime, and sleep HR of 0.31, 0.21, 0.20, and 0.07, respectively. Heritability estimates in the abovementioned conditions for systolic BP (SBP)/diastolic BP (DBP)/mean BP (MBP) were all significant and estimated at 0.19/0.19/0.19, 0.30/0.44/0.41, 0.28/0.38/0.39, and 0.21/0.18/0.20, respectively. Heritability estimates for 24-hour and daytime ambulatory SBP, DBP, and MBP ranged from 0.28 to 0.44, and were higher than the heritability estimates for beat-to-beat recordings and sleep periods, which were estimated within a narrow range of 0.18–0.21. Conclusion: In this cohort, because shared environments are common to all, the environmental influence that occurs is primarily due to the variation in non-shared environment that is unique to the individual. We demonstrated significant heritability estimates for both beat-to-beat office and ambulatory BP and HR recordings, but 24-hour and daytime ambulatory heritabilities are higher than those from beat-to-beat resting levels and ambulatory night-time recordings.

Elevated pulse pressure is associated with cardiovascular disorders and mortality in various populations. The genetic influence on pulse pressure has been confirmed by heritability estimates using related individuals. Recently, efforts have been made in mapping genes that are linked to the phenotype. We report results on our heritability and linkage study conducted on the Chinese population in mainland China where cardiovascular and cerebrovascular diseases are becoming the leading cause of death. A total of 630 pairs of middle-aged Chinese twins were collected for heritability analysis, from which 63 dizygotic twin pairs were randomly selected for genome-wide linkage analysis using Affymetrix 6.0 SNP array. Regression analysis reconfirmed the significant effects of age, sex, and BMI on pulse pressure. Comparison of twin models suggested the parsimonious AE model as the best model with a heritability estimate of 0.45. Genome-wide non-parametric linkage analysis identified three significant linkage peaks on chromosome 11 (lod score 4.06 at 30.5 cM), chromosome 12 (lod score 3.97 at 100.7 cM), and chromosome 18 (lod score 4.01 at 70.7 cM) with the last two peaks closely overlapping with linkage peaks reported by two American studies. In addition, multiple regions with suggestive linkage were identified with many of them overlapping with published linkage regions. Our results provide both epidemiological and molecular genetic evidence for the genetic dissection of pulse pressure in the Chinese population, which could help in fine mapping and in characterizing genes that are involved in the regulation of pulse pressure.

As part of the Genes, Environment and Development Initiative, the Minnesota Center for Twin and Family Research (MCTFR) undertook a genome-wide association study, which we describe here. A total of 8,405 research participants, clustered in four-member families, have been successfully genotyped on 527,829 single nucleotide polymorphism (SNP) markers using Illumina's Human660W-Quad array. Quality control screening of samples and markers as well as SNP imputation procedures are described. We also describe methods for ancestry control and how the familial clustering of the MCTFR sample can be accounted for in the analysis using a Rapid Feasible Generalized Least Squares algorithm. The rich longitudinal MCTFR assessments provide numerous opportunities for collaboration.

Norway has a long-standing tradition in twin research, but the data collected in several population-based twin studies were not coordinated centrally or easily accessible to the scientific community. In 2009, the Norwegian Twin Registry was established at the Norwegian Institute of Public Health (NIPH) in Oslo with the purpose of creating a single research resource for Norwegian twin data. As of today, the Norwegian Twin Registry contains 47,989 twins covering birth years 1895–1960 and 1967–1979; 31,440 of these twins consented to participate in health-related research. In addition, DNA from approximately 4,800 of the twins is banked at the NIPH biobank and new studies are continually adding new data to the registry. The value of the Norwegian twin data is greatly enhanced by the linkage opportunities offered by Norway's many nationwide registries, spanning a broad array of medical, demographic, and socioeconomic information.

Aim: The study evaluated the applicability of Doppler ultrasonography in predicting the course of pregnancy and neonatal outcome in dichorionic pregnancy complicated by growth discordance. Methods: Doppler examination of the umbilical artery (UA) and middle cerebral artery (MCA) was performed in 106 twins. Abnormal values of the UA pulsatility index (PI) were considered to be above the 95th percentile and below 5th percentile for the MCA PI for gestational week. The difference of UA PI ≥0.5 in twin pairs was considered abnormal. Doppler results were compared with selected parameters that characterize the course of pregnancy and fetal outcome. Results: Abnormal UA PI as well as the intertwine PI difference of 0.5 and more correlated significantly with lower gestational age at delivery, intertwine growth discordance of 35% or more, lower birth weight, and abnormal fetal outcome. The abnormal cerebro-umbilical (C/U) ratio correlated statistically with lower birth weight, abnormal fetal outcome, and an increased risk of premature delivery. There were no statistically significant differences in the majority of parameters that characterize the neonatal outcome between the groups with normal and abnormal MCA PI. Conclusion: The intertwine UA PI difference ≥0.5 had the highest predictive value in the assessment of adverse fetal outcome and risk for small for gestational age (SGA). Relatively poor sensitivity was noted with regard to the abnormal values of UA PI and C/U ratio. The worse correlation was found in case of MCA PI.

The complexities of twin relationships posed by separate rearing and by opposite sex are considered. Unusual cases may highlight unique social-interactional processes and outcomes occurring in these pairs. Research reviews include recent twin studies on second language acquisition, political behavior, and multiple birth rates. Items of more general interest include twin ‘cousins’ reared apart, indistinguishable monozygotic quadruplets, a genetic testing dilemma, and a performance about separated twins.