Exomic Sequencing of Immune-Related Genes Reveals Novel Candidate Variants Associated with Alopecia Universalis

January 2013 in “ PLoS ONE ”

Seungbok Lee, Seung Hwan Paik, Hyun Jin Kim, Hyeong Ho Ryu, Soeun Cha, Seong Jin Jo, Hee Chul Eun, Jeong‐Sun Seo, Jong‐Il Kim, Oh Sang Kwon

alopecia universalis alopecia areata HLA-DRB5 BTNL2 HLA-DMB TLR1 PMS2 HLA-A single nucleotide polymorphisms AU AA SNPs

TLDR HLA-DRB5 and other genes may be linked to alopecia universalis.

The study conducted whole-exome sequencing on 6 alopecia universalis (AU) patients and identified 26 candidate variants in immune-related genes. Further genotyping of 14 additional AU samples against 155 Asian controls revealed 6 significant variants, with notable linkage disequilibrium between SNPs such as rs41559420 of HLA-DRB5 and rs28362679 of BTNL2. While BTNL2 was previously associated with alopecia areata (AA), HLA-DRB5 was newly implicated. The study also identified novel genetic variants in genes like HLA-DMB, TLR1, and PMS2, and confirmed an additional locus on HLA-A. These findings suggested new genetic associations with AU, highlighting HLA-DRB5 as a potential hidden culprit gene.

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Exomic Sequencing of Immune-Related Genes Reveals Novel Candidate Variants Associated with Alopecia Universalis

Research cited in this study

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