摘要

Our recent targeted sequencing study identified a missense single- nucleotide polymorphism rs72474224 ( c. 324C> T) in GJB2. To investigate the correlation between rs72474224 ( c. 324C> T) and subphenotypes of psoriasis, genotype data for rs72474224 ( c. 324C> T, p. Val37Ile) was analyzed in 9946 cases and 9906 controls. The additive model provided the best fit for rs72474224 ( P= 7.34 x 10- 9). The genotypic and allelic frequency distributions were associated with plaque psoriasis in case- only ( Pgenotype = 2.67 x 10- 3, Pallele = 6.22 x 10- 4) and subphenotype- control ( Pgenotype = 1.58 x 10- 11, Pallele = 8.16 x 10- 12) analyses. No other significant difference was found in case- only analyses. Rs72474224 in GJB2 is preferentially associated with plaque psoriasis in Chinese population and might contribute to the complexity of psoriasis clinical features.