Abstract
Non-segmental vitiligo (NSV) is the most common type of vitiligo, which is characterized by chronic and progressive loss of melanocytes. Genetic factors have been shown to play a key role in NSV in association and family studies. Granzyme B is a serine protease found in the cytoplasmic granules of cytotoxic T lymphocytes and natural killer cells that play an important role in inducing apoptotic changes of target cells. Several recent studies have provided evidence that polymorphism in the GZMB gene might be associated with autoimmune disease. A total of 249 NSV patients and 455 healthy controls were recruited to determine whether single nucleotide polymorphisms (SNPs) [rs2236337 (3′ untranslated region, UTR), rs2236338 (Tyr247His), rs11539752 (Pro94Ala), rs10909625 (Lys80Lys), rs8192917 (Arg55Gln), and rs7144366 (5′ near gene)] in GZMB gene contribute to the risk of developing NSV. Genotyping was performed using a single 192.24 Dynamic Array IFC. Data were analyzed using EP1 SNP Genotyping Analysis software to obtain genotype calls. Among the six SNPs tested, five SNPs (rs2236337, rs2236338, rs11539752, rs10909625, and rs8192917) showed significant association with NSV susceptibility. Among them, rs2236338, rs11539752, rs10909625, and rs8192917 remained a statistically significant association following multiple correction test. The five SNPs were located within a block of linkage disequilibrium. Haplotypes T–A–G–T–T and C–G–C–C–C consisting of rs2236337, rs2236338, rs11539752, rs10909625, and rs8192917 demonstrated significant association with NSV. Our results suggest that GZMB polymorphisms are associated with the development of NSV.
Highlights
Vitiligo is the most frequent skin pigmentation disorder characterized by a chronic and progressive loss of melanocytes[1]
Several genes have been associated with the development of Non-segmental vitiligo (NSV), such as cytotoxic T-lymphocyte associated protein 4 (CTLA4), protein tyrosine phosphatase non-receptor type 22 (PTPN22), arginine-glutamic acid dipeptide repeats (RERE), tyrosinase (TYR), and caspase 7 (CASP7)[6,7]
There were significant associations between genotype frequency and distribution in the NSV group in recessive model (OR = 2.32, 95% confidence intervals (CIs) = 1.16– 4.65, p = 0.018 in recessive)
Summary
Vitiligo is the most frequent skin pigmentation disorder characterized by a chronic and progressive loss of melanocytes[1]. NSV, which corresponds to the generalized type, is characterized by chronic and progressive loss of melanocytes in a symmetric fashion. In NSV, the melanocyte loss is caused by autoimmune response. It is frequently accompanied by other autoimmune diseases, such as autoimmune thyroid disease, systemic lupus erythematosus, rheumatoid arthritis, Addison’s disease, pernicious anemia, and adult-onset insulin-dependent diabetes m ellitus[3,4]. As many autoimmune diseases are associated with genetic susceptibility, many genome-wide association studies (GWAS) have been performed to investigate N SV5. GWAS of vitiligo has identified a susceptibility variant for NSV in Granzyme B (GZMB)[12]. The objective of this study was to investigate the genetic distribution of GZMB SNPs in NSV and unaffected controls in a Korean population
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