rs10503019 - ATP8B1

Magnitude 2.0 · 1 study on file

Reported associations

• Genome-Wide Association Study of Generalized Vitiligo in an Isolated European Founder Population Identifies SMOC2, in Close Proximity to IDDM8 - The Journal of investigative dermatology (2010) · Birlea SA, Gowan K, Fain PR, Spritz RA · PubMed 19890347

  ABSTRACT: Generalized vitiligo is a common disorder in which patchy loss of skin and hair pigmentation principally appears to result from autoimmune loss of melanocytes from affected regions. We previously characterized a unique founder population in an isolated Romanian community with elevated prevalence of generalized vitiligo and other autoimmune diseases, including autoimmune thyroid disease, rheumatoid arthritis, and type I diabetes mellitus. Here, we describe a genome-wide association study (GWAS) of generalized vitiligo in 32 distantly related affected patients from this remote village and 50 healthy controls from surrounding villages. Vitiligo was significantly associated with single-nucleotide polymorphisms (SNPs) in a 30-kb LD block on chromosome 6q27, in close vicinity to IDDM8,

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