A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and Is Associated with Androgenic Alopecia

January 2014

Nikoletta Nagy, Katalin Farkas, Ágnes Kinyó, Barbara Fazekas, Kornélia Szabó, Edit Kollár, Balázs Sztanó, Angéla Meszes, Dóra Beke, Lajos Kemény, László Rovó, Márta Széll

APCDD1 androgenic alopecia polymorphism SNP exon translation efficiency protein levels genetic variation hair loss single nucleotide polymorphism gene expression

TLDR A specific gene change in APCDD1 increases the risk of hair loss.

The study investigated the role of APCDD1 gene polymorphisms in androgenic alopecia by analyzing 210 patients and 98 controls. A significant association was found with the c.1781C/T, p.L476L SNP (rs3185480) in exon 5 of the APCDD1 gene, which increased the risk of developing androgenic alopecia by 3.5-fold for homozygotes and 2.8-fold for heterozygotes. This polymorphism was linked to reduced APCDD1 protein levels, likely due to altered translation efficiency from a codon change, suggesting its contribution to the condition.

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