Biology subjects

Barban, N.

Publications and source records attributed to Barban, N..

3 recordsLinked to original sources

bioRxiv2025

Parental haplotypes reconstruction in up to 440,209 individuals reveals recent assortative mating dynamics

Assortative mating (AM), the tendency for individuals to choose partners with similar traits, plays an important role in social stratification and has a wide-spread impact on the genetic architecture of complex human traits. A genetic footprint of this behaviour, genetic assortative mating (GAM), has been documented for many traits. However, most existing approaches to estimate GAM either rely on genotyped couples - rare in large biobanks - or on estimates based on gametic phase disequilibrium (GPD), which reflect cumulative effects over multiple generations and cannot detect short-term events. We introduce a novel, scalable approach that infers genetic data for the parental generation to boost statistical power and improve interpretability when estimating GAM in biobank cohorts. Our method reconstructs the two parental haplotypes of biobank individuals by leveraging state-of-the-art inter-chromosomal phasing based on close relative information. By correlating polygenic scores computed separately on maternally and paternally inherited haplotypes, we infer the extent of GAM. Applied to 245,884 individuals from the UK Biobank and 194,325 individuals from the Estonian Biobank, our haplotype-based estimates showed strong concordance with GAM estimates from genotyped mate pairs across 69 traits and improved performance compared to existing GPD-based methods. We replicated previously identified patterns of GAM for many traits (educational attainment, height, BMI, and alcohol consumption), and revealed new ones (overall health and sedentary lifestyle). Temporal and geographic stratification revealed accelerated assortment in recent generations -- particularly for education and height -- and modest differences between urban and rural contexts. Our method enables scalable, interpretable, and generation-specific estimation of GAM in large biobank cohorts, providing new insights into the dynamic nature of mate choice and its impact on the genetic makeup of populations.

genetics↗

bioRxiv2020

Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.

Identifying genetic determinants of reproductive success may highlight mechanisms underlying fertility and also identify alleles under present-day selection. Using data in 785,604 individuals of European ancestry, we identify 43 genomic loci associated with either number of children ever born (NEB) or childlessness. These loci span diverse aspects of reproductive biology across the life course, including puberty timing, age at first birth, sex hormone regulation and age at menopause. Missense alleles in ARHGAP27 were associated with increased NEB but reduced reproductive lifespan, suggesting a trade-off between reproductive ageing and intensity. As NEB is one component of evolutionary fitness, our identified associations indicate loci under present-day natural selection. Accordingly, we find that NEB-increasing alleles have increased in frequency over the past two generations. Furthermore, integration with data from ancient selection scans identifies a unique example of an allele--FADS1/2 gene locus--that has been under selection for thousands of years and remains under selection today. Collectively, our findings demonstrate that diverse biological mechanisms contribute to reproductive success, implicating both neuro-endocrine and behavioural influences.

genetics↗

bioRxiv2020

Identification of 370 loci for age at onset of sexual and reproductive behaviour, highlighting common aetiology with reproductive biology, externalizing behaviour and longevity

Age at first sexual intercourse (AFS) and age at first birth (AFB) have implications for health and evolutionary fitness. In the largest genome-wide association study to date (AFS, N=387,338; AFB, N=542,901), we identify 370 independent signals, 11 sex-specific, with a 5-6% polygenic score (PGS) prediction. Heritability of AFB shifted from 9% [CI=4-14] for women born in 1940 to 22% [CI=19-25] in 1965. Signals are driven by the genetics of reproductive biology and externalising behaviour, with key genes related to follicle stimulating hormone (FSHB), implantation (ESR1), infertility, and spermatid differentiation. Polycystic Ovarian Syndrome leads to later AFB, linking with infertility. Late AFB is protective against later-life disease and associated with parental longevity. Higher childhood socioeconomic circumstances and those in the highest PGS decile (90%+) experience markedly later reproductive onset. Results are relevant for improving teenage and late-life health, for understanding longevity, and guiding experimentation into mechanisms of infertility.

genetics↗