American Journal of Human Genetics

Disease-linked DNA variants show signs of natural selection

An observational analysis of 72,635 Han Taiwanese adults identified 168 DNA variants with age-group differences consistent with ongoing natural selection.

Paper by Chen Jh, Mei-Ling Kang, Cheng-Jui Lin, +7 more authorsWen-Ya Ko · Georgia Institute of Technology · National Yang Ming Chiao Tung University

Our read

Mechanisms
Studied:
Cross-sectional study of 72,635 Han Taiwanese individuals
What changed:
Of 168 candidate variants, 159 were less common in younger generations
The catch:
Selection was inferred from age groups; genetic changes across generations were not followed

Editor of record: Boris Djordjevic · AgingResearch.News

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In an observational study, researchers analyzed 509,817 DNA variants—differences in DNA sequence—in 72,635 Han Taiwanese adults aged 24 to 70. They compared variant frequencies across eight age groups and adjusted for ancestry differences between groups.

They identified 168 candidate variants with patterns consistent with ongoing natural selection. Of these, 159 were less common in younger generations, consistent with selection against harmful variants. Rare variants and variants previously associated with disease were overrepresented among the candidates. In a separate analysis of 74,854 participants, a subset of candidates was linked to larger red blood cells and lower concentrations of hemoglobin, the oxygen-carrying protein inside them.

Why it matters

Disease susceptibility is relevant to health in later life. The authors suggest that evidence of ongoing selection could help refine genetic models of disease risk.

Caveats

The study compared different people across age groups rather than following genetic changes across generations, so the selection signals were inferred. The findings in Han Taiwanese adults may not extend to other populations.

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