The association between GJB2 gene polymorphism and psoriasis: a verification study

Psoriasis is a chronic inflammatory skin disease with multifactorial etiology. Connexin 26 (Cx26), an important gap junction protein, has been found highly expressed in plaques of psoriasis. Recently, genome wide association studies (GWAS) identified one new single nucleotide polymorphism (SNP) in GJB2 gene coding for Cx26 protein associated with psoriasis in Chinese Han population. In this paper, we verified the GWAS data in Chinese Han population. Here we genotyped the polymorphism of GJB2 rs3751385:C>T in 371 psoriasis patients and 330 healthy controls in Chinese Han population using polymerase chain reaction restriction fragment length polymorphism assay (PCR–RFLP). Our case–control assay indicated decreased frequency of the GJB2 rs3751385 C allele in psoriasis patients compared with that in the healthy controls [p = 6.02 × 10−5, Odds ratio (OR) = 0.793, 95 % confidence interval (CI) 0.706–0.889]. The result suggested that GJB2 gene polymorphism rs3751385:C>T was associated with psoriasis susceptibility of Chinese Han population.