Gut microbial communities represent one source of human genetic and metabolic diversity. To examine how gut microbiomes differ between human populations when viewed from the perspective of component microbial lineages, encoded metabolic functions, stage of postnatal development, and environmental exposures, we characterized bacterial species present in fecal samples obtained from 531 individuals representing healthy Amerindians from the Amazonas of Venezuela, residents of rural Malawian communities, and inhabitants of USA metropolitan areas, as well as the gene content of 110 of their microbiomes. This cohort encompassed infants, children, teenagers and adults, parents and offspring, and included mono- and dizygotic twins. Shared features of the functional maturation of the gut microbiome were identified during the first three years of life in all three populations, including age-associated changes in the representation of genes involved in vitamin biosynthesis and metabolism. Pronounced differences in bacterial species assemblages and functional gene repertoires were noted between individuals residing in the USA compared to the other two countries. These distinctive features are evident in early infancy as well as adulthood. In addition, the similarity of fecal microbiomes among family members extends across cultures. These findings underscore the need to consider the microbiome when evaluating human development, nutritional needs, physiological variations, and the impact of Westernization.

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Delay discounting (DD) refers to the preference for smaller immediate rewards over larger but delayed rewards, and is considered to be a distinct component of a broader "impulsivity" construct. Although greater propensity for discounting the value of delayed gratification has been associated with a range of problem behaviors and substance abuse, particularly in adolescents, the origins of individual differences in DD remain unclear. We examined genetic and environmental influences on a real-life behavioral measure of DD using a longitudinal twin design. Adolescent participants were asked to choose between a smaller ($7) reward available immediately and a larger ($10) reward to be received in 7 days. Biometrical genetic analysis using linear structural equation modeling showed significant heritability of DD at ages 12 and 14 (30 and 51%, respectively) and suggested that the same genetic factors influenced the trait at both ages. DD was significantly associated with symptoms of conduct disorder, attention deficit hyperactivity disorder, substance use, and with higher novelty seeking and poor self-regulation. This study provides the first evidence for heritability of DD in humans and suggests that DD can be a promising endophenotype for genetic studies of addiction and externalizing disorders.

The association of college attendance with alcohol use and alcohol use disorders was examined in a population-based young adult female twin sample identified from a systematic search of birth records. College-attending women consumed a larger overall volume of alcohol than did their non-college-attending peers, but they were not more likely to be diagnosed with an alcohol use disorder. Significant associations between college attendance and alcohol involvement were probed using 3 different complementary research designs: multivariate cross-sectional analyses, longitudinal analyses of the precollege and college years, and cotwin-control analyses of twin pairs discordant for attending college. Although demographic and lifestyle characteristics accounted for most or all of the association between college attendance and alcohol involvement, there was 1 aspect of drinking behavior, occasionally consuming large quantities of alcohol, that remained significantly associated with college attendance even after controlling for these characteristics or for genetic and family background factors. These results are consistent with the conclusion that some aspect of the college experience may be an important environmental risk factor for this pattern of drinking among young adults.

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Monitoring the correspondence between the intended and actually executed action, a fundamental mechanism of behavioral regulation, is reflected by error-related negativity (ERN), an ERP component generated by the anterior cingulate cortex. This study examined genetic influences on the ERN and other components related to action monitoring (correct negativity, CRN, and error positivity, Pe). A flanker task was administered to adolescent twins (age 12) including 99 monozygotic (MZ) and 175 dizygotic (DZ) pairs. Genetic analysis showed substantial heritability of all three ERP components (40%-60%) and significant genetic correlations between them. This study provides the first evidence for heritable individual differences in the neural substrates of action monitoring and suggests that ERN, CRN, and Pe can potentially serve as endophenotypes for genetic studies of personality traits and psychopathology associated with abnormal regulation of behavior.

Carver and White's Behavioral Inhibition System/Behavioral Activation System (BIS/BAS) Scale has been a useful tool for studying individual differences in reward/punishment sensitivity; however, its factor structure and invariance across development have not been well tested. In the current study, we examined the factor structure of the BIS/BAS Scale across five age groups: 6-10-year-old children (N=229), 11-13-year-old early adolescents (N=311), 14-16-year-old late adolescents (N=353), 18-22-year-old young adults (N=844), and 30-45-year-old adults (N=471). Given poor fit of the standard four-factor model (BIS, Reward Responsivity, Drive, Fun Seeking) in the literature, we conducted exploratory factor analyses in half of the participants and identified problematic items across age groups. The four-factor model showed poor fit in our sample whereas removing the BAS Fun Seeking subscale and problematic items from the remaining subscales improved fit in confirmatory factor analyses conducted with the second half of the participants. The revised model showed strict invariance across age groups and by sex, indicating consistent factor structure, item loadings, thresholds, and unique/residual variances. Additionally, in our cross-sectional data, we observed non-linear relations between age and subscale scores, where scores tended to be higher in young adulthood than childhood and later adulthood. Furthermore, sex differences emerged across development; adolescent and adult females had higher BIS scores than males in this age range, whereas sex differences were not observed in childhood. These differences may help us to understand the rise in internalizing psychopathology in adolescence, particularly in females. Future developmental studies are warranted to examine the impact of rewording problematic items.

Background Delay discounting (DD), a decline in the subjective value of reward with increasing delay until its receipt, is an established behavioral model of impulsive choice, a key component of a broader impulsivity construct. Greater DD, i.e. a tendency to choose smaller-immediate over larger-delayed rewards, has been implicated as a potential intermediate phenotype (endophenotype) for addictive disorders and comorbid externalizing psychopathology, particularly in adolescence. However, genetic and environmental origins of DD remain unclear. Accordingly, the goal of the present study was to assess heritability of DD, an important aspect of its utility as an endophenotype. Methods A commonly used computerized procedure involving choice between varying amounts of money available immediately and a “standard” amount of $100 presented at variable delays was administered to a population-based sample of twins aged 16 and 18 (n=560, including 134 MZ and 142 DZ pairs). DD was quantified using area under the discounting curve (AUC) and the k coefficient estimated by fitting a hyperbolic model to individual data. Heritability was assessed using linear structural equation modeling of twin data. Results The genetic analysis revealed significant heritability of both DD measures (AUC: 46% and 62%; k: 35% and 55% at age 16 and 18, respectively). Conclusion The present study provides evidence for heritability of both model-based and model-free DD measures and suggests that DD is a promising intermediate phenotype for genetic dissection of impulsivity and externalizing spectrum disorders.