Yao F, Yue M, Zhang C, Zuo X, Zheng X, Zhang A, Wang Z, Liu S, Li H, Meng L, Zeng M, Fan X, Sun L, Zhang X
Institute of Dermatology and Department of Dermatology, Anhui Medical University, Hefei, China.
State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, China.
Tissue Antigens. 2015 Aug;86(2):134-8. doi: 10.1111/tan.12595. Epub 2015 Jun 24.
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 × 10(-9)). The genotypic and allelic frequency distributions were associated with plaque psoriasis in case-only (Pgenotype = 2.67 × 10(-3), Pallele = 6.22 × 10(-4)) and subphenotype-control (Pgenotype = 1.58 × 10(-11), Pallele = 8.16 × 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.
我们最近的靶向测序研究在GJB2基因中鉴定出一个错义单核苷酸多态性rs72474224（c.324C>T）。为了研究rs72474224（c.324C>T）与银屑病亚表型之间的相关性，我们对9946例患者和9906例对照的rs72474224（c.324C>T，p.Val37Ile）基因型数据进行了分析。加性模型对rs72474224的拟合效果最佳（P = 7.34 × 10⁻⁹）。在仅病例分析（P基因型 = 2.67 × 10⁻³，P等位基因 = 6.22 × 10⁻⁴）和亚表型-对照分析（P基因型 = 1.58 × 10⁻¹¹，P等位基因 = 8.16 × 10⁻¹²）中，基因型和等位基因频率分布与斑块状银屑病相关。在仅病例分析中未发现其他显著差异。GJB2基因中的rs72474224在中国人群中优先与斑块状银屑病相关，可能导致银屑病临床特征的复杂性。
