title: CTLA4 polymorphisms are associated with vitiligo, in patients with concomitant autoimmune diseases.
abstract: The cytotoxic T lymphocyte antigen4 (CTLA4) gene plays a critical role in the control of T cell activation. The gene encodes a surface molecule with inhibitory effects on activated T cells. Several studies have disclosed an association between the previously known variants of the CTLA4 gene and autoimmune disorders, but no study has as yet found any definite association between vitiligo and the CTLA4 polymorphisms. A recent study identified new candidate susceptibility polymorphisms in this region, associated with differential gene splicing and thereby the relative abundance of soluble CTLA4. To assess these new polymorphisms in patients with vitiligo, we genotyped 100 vitiligo patients and 140 healthy controls from the UK, for these novel polymorphisms. No association was found in patients with isolated vitiligo, but a significant association was seen in patients with vitiligo and other autoimmune diseases. The results indicate that the polymorphisms in the CTLA4 gene region confer susceptibility to vitiligo when occurring together with other autoimmune diseases, but not in patients with isolated vitiligo. This raises the possibility that there are two distinct forms of vitiligo where only a subgroup of patients may have a disease caused by the autoimmune destruction of melanocytes.
authors.affiliation: Institute and Department of Medical Genetics, Ullevål University Hospital, University of Oslo, Oslo, Norway. anne.blomhoff@medisin.uio.no
authors.forename: Anne
authors.initials: A
authors.lastname: Blomhoff
authors.forename: E Helen
authors.initials: EH
authors.lastname: Kemp
authors.forename: David J
authors.initials: DJ
authors.lastname: Gawkrodger
authors.forename: Anthony P
authors.initials: AP
authors.lastname: Weetman
authors.forename: Eystein S
authors.initials: ES
authors.lastname: Husebye
authors.forename: Hanne E
authors.initials: HE
authors.lastname: Akselsen
authors.forename: Benedicte A
authors.initials: BA
authors.lastname: Lie
authors.forename: Dag E
authors.initials: DE
authors.lastname: Undlien
mesh_terms: D000483:Alleles; D017398:Alternative Splicing; D015703:Antigens, CD; D000943:Antigens, Differentiation / Q000235:genetics*; D001327:Autoimmune Diseases / Q000150:complications / Q000235:genetics*; D060908:CTLA-4 Antigen; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D014820:Vitiligo / Q000150:complications / Q000235:genetics*
chemical_list: D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human