Leveraging related health phenotypes for polygenic prediction of impulsive choice,impulsive action,and impulsive personality traits in 1534 European ancestry community adults

Impulsivity refers to a number of conceptually related phenotypes reflecting self-regulatory capacity that are considered promising endophenotypes for mental and physical health. Measures of impulsivity can be broadly grouped into three domains, namely, impulsive choice, impulsive action, and impulsive personality traits. In a community-based sample of ancestral Europeans (n = 1534), we conducted genome-wide association studies (GWASs) of impulsive choice (delay discounting), impulsive action (behavioral inhibition), and impulsive personality traits (UPPS-P), and evaluated 11 polygenic risk scores (PRSs) of phenotypes previously linked to self-regulation. Although there were no individual genome-wide significant hits, the neuroticism PRS was positively associated with negative urgency (adjusted R² = 1.61%, p = 3.6 × 10⁻⁷) and the educational attainment PRS was inversely associated with delay discounting (adjusted R² = 1.68%, p = 2.2 × 10⁻⁷). There was also evidence implicating PRSs of attention-deficit/hyperactivity disorder, externalizing, risk-taking, smoking cessation, smoking initiation, and body mass index with one or more impulsivity phenotypes (adjusted R²s: 0.35%–1.07%; FDR adjusted ps = 0.05–0.0006). These significant associations between PRSs and impulsivity phenotypes are consistent with established genetic correlations. The combined PRS explained 0.91%–2.46% of the phenotypic variance for individual impulsivity measures, corresponding to 8.7%–32.5% of their reported single-nucleotide polymorphism (SNP)-based heritability, suggesting a non-negligible portion of the SNP-based heritability can be recovered by PRSs. These results support the predictive validity and utility of PRSs, even derived from related phenotypes, to inform the genetics of impulsivity phenotypes.     

Genetic counseling for sex chromosome anomalies (SCAs) in Israel and Germany: assessing medical risks according to the importance of fertility in two cultures

In this article, I report findings from a comparative study of Israeli and German genetic counselors. Specifically, it concerns counselors' attitudes and risk assessments relating to prenatal diagnosis of sex chromosome anomalies (SCAs) such as Klinefelter and Turner syndromes. Data collected through in-depth interviews with counselors in both countries (N = 32) are presented, and the types of claims experts deploy in their personal and professional estimation of the risks involved in SCAs are analyzed. The article concludes by suggesting that the counselors rhetoric concerning SCAs, whose major manifestation is the future infertility of the unborn child as well as their estimations of the related risks, should be situated in a broader cultural context, that of local Israeli and German understandings of the importance of fertility, and not in their professional nondirective ethos. Hence, to understand the practice of genetic counselors in two late-modern societies, one must understand the unique relationship between the individual bodies of pregnant women and the body politics of their nations, a relationship mediated by the counselors, who are the bearers of knowledge and expertise in this field.