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10-06-2010 | Dermatology | Article

FOXP1 gene and MHC located variants linked to vitiligo susceptibility



MedWire News: Results from two studies published in Nature Genetics suggest that variation in the forkhead box P1 gene (FOXP1) and at loci in the major histocompatibility complex (MHC) and on chromosome 6q27 are associated with susceptibility to vitiligo.

These results add to those from a previous study, reported by MedWire News, indicating that genes involved in autoimmunity are associated with development of the condition.

Richard Spritz (University of Colorado, Aurora, USA) and colleagues, who also carried out the previous study, tested additional loci that showed suggestions of an association in the original genome-wide study. They identified signs of association with generalized vitiligo in two new genomic regions including the genes FOXP1 and CCR6 (at 6q27).

The study cohort comprised 647 individuals with and 1056 individuals without generalized vitiligo, as well as 183 simplex generalized vitiligo trios and 332 generalized vitiligo multiplex families all of European descent.

Notably, both FOXP1 and CCR6 are involved in immune system regulation.

In the other study, Xue-Jun Zhang (Anhui Medical University, Hefei, China) e and co-investigators carried out a genome-wide association study of 1117 Chinese Han individuals with vitiligo and 1429 controls, as well as a follow-up replication study in Chinese Han and Uygur people including 6623 cases and 10,740 controls.

They identified three key genomic regions associated with vitiligo; two in the MHC (rs11966200 and rs9468925) and one located at 6q27 (rs2236313). Genes in the MHC play important roles in autoimmunity.

“Generalized vitiligo is a complex disorder that involves not just genetics, not just the environment, but a combination of factors,” said Margaret Wallace, University of Florida, Gainesville, USA, a co-author of Spritz’s paper.

She added: “A number of different targets for therapies probably exist. As we do more research on the pathways underlying vitiligo, we can begin figuring out ways to interrupt them. This could present an opportunity to practice personalized medicine, in which therapies are tailored to people with different genetic susceptibilities.”

MedWire ( is an independent clinical news service provided by Current Medicine Group, a trading division of Springer Healthcare Limited. © Springer Healthcare Ltd; 2010

By Helen Albert