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 used exomic sequencing to explore genetic variants linked to alopecia universalis (AU) in 20 patients, identifying 26 candidate variants in immune-related genes. Six variants showed significant association with AU compared to 155 Asian controls, notably implicating the HLA-DRB5 gene, previously unlinked to alopecia areata (AA), as a potential contributor to AU. The research also reinforced associations with known genes like BTNL2 and HLA-A and discovered new variants in genes such as HLA-DMB, TLR1, and PMS2. Despite the small sample size, the study underscored the importance of rare genetic variants in AU's genetic basis and suggested further research with larger populations.

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

Research cited in this study

research Genome-Wide Association Study in Alopecia Areata Implicates Both Innate and Adaptive Immunity

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