Atopic Dermatitis Susceptibility Variants in Filaggrin Hitchhike Hornerin Selective Sweep.
作者： Muthukrishnan Eaaswarkhanth , Duo Xu , Colin Flanagan , Margarita Rzhetskaya , M Geoffrey Hayes
DOI: 10.1093/GBE/EVW242
关键词: Locus (genetics) 、 Biology 、 Haplogroup 、 Genetic variation 、 Copy-number variation 、 Haplotype 、 Allele frequency 、 Genetics 、 Filaggrin 、 Selective sweep
摘要: Human skin has evolved rapidly, leaving evolutionary signatures in the genome. The filaggrin (FLG) gene is widely studied for its skin-barrier function humans. extensive genetic variation this gene, especially common loss-of-function (LoF) mutations, been established as primary risk factors atopic dermatitis. To investigate evolution of we analyzed 2,504 human genomes and genotyped copy number repeats within FLG 126 individuals from diverse ancestral backgrounds. We were unable to replicate a recent study claiming that LoF adaptive northern latitudes with lower ultraviolet light exposure. Instead, present multiple lines evidence suggesting variation, including variants, have little or no effect on fitness modern Haplotype-level scrutinization locus revealed selective sweep Asia, which increased allele frequency haplotype group (Huxian haplogroup) Asian populations. Functionally, found Huxian haplogroup carries dozens functional variants hornerin (HRNR) genes, those are associated dermatitis susceptibility, HRNR expression levels microbiome diversity skin. Our results suggest target function, involve susceptibility dermatitis, seem hitchhike HRNR. presents novel case harbors clinically relevant complex trajectories.
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