Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, 81 Meishan Road, Hefei, 230032 Anhui, People's Republic of China.
Mol Biol Rep. 2011 Oct;38(7):4445-53. doi: 10.1007/s11033-010-0573-5. Epub 2010 Dec 9.
The B-cell lymphocyte kinase (BLK) is a src-family protein tyrosine kinase specifically expressed in B-lineage cells that has been implicated in the pathogenesis of systemic lupus erythematosus (SLE) and has been investigated in numerous ethnically diverse studies. However, genetic association studies that have examined the association between BLK gene variants and SLE have produced conflicting results. To shed further light on this issue, we performed a meta-analysis of the association between rs13277113, rs2248932 polymorphism and SLE in different ethnic groups. An updated literature-based meta-analysis of six original articles involving 20,271 control individuals and 11,796 subjects with SLE was conducted. Crude ORs with 95% CIs were used to assess the strength of association between rs13277113, rs2248932 polymorphism and SLE risk. Publication bias was estimated using Egger's linear regression test. The authors assessed the evidence of genotypic association using STATA Version 10.0. The combined overall odds ratio, calculated for SLE and the risk A-allele of rs13277113 was 1.416 (95% CI: 1.358, 1.477). An odds ratio of 1.264 (95% CI: 1.208, 1.322) was found for the T-allele of rs2248932. Significant associations of rs13277113 and SLE were observed for dominant model (AA + AG vs. GG, OR: 1.518; 95% CI: 1.411, 1.632), and recessive model (AA vs. AG + GG, OR: 1.553; 95% CI: 1.461, 1.651); so were rs2248932 and SLE for dominant model (TT + TC vs. CC, OR: 1.342; 95% CI: 1.233, 1.460), and recessive model (TT vs. TC + CC, OR: 1.338; 95% CI: 1.257, 1.424). All of these were conducted in fixed effects model as heterogeneity was not detected. Tests for bias revealed no evidence of biases. On the assessment of available evidence, the authors concluded that moderate evidence exists for an association between the BLK rs13277113, rs2248932 variants and SLE. Therefore, further research is warranted on the role of BLK polymorphisms in the etiology of SLE.
B 细胞淋巴细胞激酶（BLK）是一种Src 家族蛋白酪氨酸激酶，特异性表达于 B 细胞谱系细胞，与系统性红斑狼疮（SLE）的发病机制有关，并在众多不同种族的研究中进行了研究。然而，检查 BLK 基因变异与 SLE 之间关联的遗传关联研究产生了相互矛盾的结果。为了进一步阐明这个问题，我们对不同种族中 rs13277113、rs2248932 多态性与 SLE 之间的关联进行了荟萃分析。对涉及 20271 名对照个体和 11796 名 SLE 患者的 6 篇原始文章进行了基于文献的更新荟萃分析。使用 95%置信区间（CI）的粗比值比（OR）来评估 rs13277113、rs2248932 多态性与 SLE 风险之间的关联强度。使用 Egger 的线性回归检验估计发表偏倚。作者使用 STATA 版本 10.0 评估基因型关联的证据。计算 SLE 和 rs13277113 风险 A 等位基因的合并总体优势比为 1.416（95%CI：1.358，1.477）。rs2248932 的 T 等位基因的优势比为 1.264（95%CI：1.208，1.322）。rs13277113 与 SLE 之间存在显著的显性模型关联（AA+AG vs.GG，OR：1.518；95%CI：1.411，1.632），和隐性模型关联（AA vs.AG+GG，OR：1.553；95%CI：1.461，1.651）；rs2248932 与 SLE 之间也存在显性模型关联（TT+TC vs.CC，OR：1.342；95%CI：1.233，1.460），和隐性模型关联（TT vs.TC+CC，OR：1.338；95%CI：1.257，1.424）。所有这些都是在固定效应模型中进行的，因为没有检测到异质性。偏倚检验没有发现偏倚的证据。在对现有证据的评估中，作者得出结论，BLK rs13277113、rs2248932 变异与 SLE 之间存在中度关联的证据。因此，BLK 多态性在 SLE 发病机制中的作用需要进一步研究。
