Department of Dermatology, Institute of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, People's Republic of China.
Arch Dermatol Res. 2010 Oct;302(8):619-24. doi: 10.1007/s00403-010-1029-4. Epub 2010 Feb 4.
Systemic lupus erythematosus (SLE) is an autoimmune disease influenced by genetic and environmental factors. Recently, single nucleotide polymorphisms (SNPs) in the region of B lymphoid tyrosine kinase (BLK) have been shown to be associated with SLE in Caucasian population. In this paper, we genotyped SNP rs2248932 in 1,396 SLE patients of Chinese Han and 4,362 ethnically matched control subjects by using the Sequenom MassArray system. We confirmed that SNP rs2248932 in BLK gene was significantly associated with SLE (P = 1.41 x 10(-8) for the allele frequency, Odds ratio [OR] = 0.74, 95% confidence interval (CI): 0.66-0.82).The association of BLK in Chinese SLE patients was consistent with a dominant model (P = 8.88 x 10(-9), OR = 0.69, 95% CI: 0.61-0.79). In contrast to the Caucasian, this risk allele was the major allele in the Chinese Han; the risk allele frequency was higher in Chinese Han than in Caucasian. We did not find the association between this SNP and any subphenotype of SLE. The SNP rs2248932 was correlated to the expression of BLK mRNA. We conclude that the association of the BLK region with SLE was replicated in Chinese Han population living in mainland.
系统性红斑狼疮 (SLE) 是一种受遗传和环境因素影响的自身免疫性疾病。最近，B 淋巴细胞酪氨酸激酶 (BLK) 区域的单核苷酸多态性 (SNP) 已被证明与白种人群的 SLE 有关。在本文中，我们使用 Sequenom MassArray 系统对 1396 例汉族 SLE 患者和 4362 名种族匹配的对照进行了 SNP rs2248932 的基因分型。我们证实，BLK 基因中的 SNP rs2248932 与 SLE 显著相关（等位基因频率的 P 值为 1.41×10(-8)，优势比 [OR] = 0.74，95%置信区间 [CI]：0.66-0.82）。BLK 在汉族 SLE 患者中的关联与显性模型一致（P = 8.88×10(-9)，OR = 0.69，95%CI：0.61-0.79）。与白种人不同，该风险等位基因为汉族的主要等位基因；汉族的风险等位基因频率高于白种人。我们没有发现该 SNP 与 SLE 的任何亚表型之间存在关联。SNP rs2248932 与 BLK mRNA 的表达相关。我们的结论是，BLK 区域与 SLE 的关联在中国大陆汉族人群中得到了复制。
