Genomewide Analysis of Copy Number Variants in Alopecia Areata in a Central European Cohort Reveals Association with MCHR2

    June 2016 in “ Experimental Dermatology ”
    Johannes Fischer, Franziska Degenhardt, Andrea Hofmann, Silke Redler, F. Buket Basmanav, Stefanie Heilmann‐Heimbach, S. Hanneken, Kathrin Giehl, Hans Wolff, Susanne Moebus, Roland Kruse, Gerhard Lutz, Bettina Blaumeiser, Markus Böhm, Natalie Garcia Bartels, Ulrike Blume‐Peytavi, Lynn Petukhova, Angela M. Christiano, Markus M. Nöthen, Regina C. Betz
    TLDR MCHR2 gene duplications may be linked to alopecia areata.
    This study conducted a genomewide and candidate gene-focused analysis of copy number variants (CNVs) in a cohort of 585 patients with alopecia areata (AA) and 1,340 controls of Central European origin. The research identified a nominally significant association between AA and CNVs in five chromosomal regions, with the most notable finding being a 342.5-kb region in 6q16.3. This region, which showed duplications in 4 out of 585 patients and none in the controls, includes the genes MCHR2 and MCHR2-AS1, which are involved in melanin-concentrating hormone (MCH) signaling. These genes had not been previously linked to AA pathogenesis, but the study suggested a potential relationship between AA, pigmentation, and MCH signaling, as AA often affects pigmented hairs and can cause changes in hair color upon regrowth. The findings provided suggestive evidence for the involvement of MCHR2 duplications in the pathogenesis of AA.
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