No evidence for an association between the -871 T/C promoter polymorphism in the B-cell-activating factor gene and primary Sjögren's syndrome.
No evidence for an association between the -871 T/C promoter polymorphism in the B-cell-activating factor gene and primary Sjögren's syndrome.
复制标题
没有证据表明-871 T/C启动子多态性在B细胞激活因子基因和原发性Sjögren综合征之间存在关联。
DOI：
10.1186/ar1884
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发表时间：
2006
影响因子：
4.9
通讯作者：
Miceli-Richard, Corinne
中科院分区：
文献类型：
--
作者：
Gottenberg, Jacques-Eric;Sellam, Jeremie;Ittah, Marc;Lavie, Frederic;Proust, Alexis;Zouali, Habib;Sordet, Christelle;Sibilia, Jean;Kimberly, Robert P;Mariette, Xavier;Miceli-Richard, Corinne
多克隆B细胞活化可能与B细胞激活因子(BAFF)在原发性干燥综合征(PSS)和其他自身免疫性疾病中的病理性过度表达有关。因此，我们调查了BAFF在PSS中的过度表达是否可能是导致该疾病的主要的、由基因决定的事件。对高加索人PSS患者和对照组的BAFF基因进行了全序列测定。对162名法国PSS患者和90名法国对照个体进行了基因分型，发现了唯一常见的单核苷酸多态，即启动子区-871T/C。PSS组与对照组的等位基因频率(T等位基因频率分别为49.7%和50%，P=0.94)和BAFF基因频率差异无统计学意义(P>0.05)。BAFF基因多态性也与抗体分泌的特定模式无关。携带T等位基因的患者血清BAFF蛋白水平显著升高(TT型和TC型患者的平均值分别为8.6和5.7 ng/ml，而CC型患者的平均值分别为3.3 ng/ml；P=0.01)，但BAFF基因多态与mRNA水平无相关性。结论：BAFF基因多态性与PSS的遗传易感性无关，也与特定的抗体产生模式无关。
Polyclonal B cell activation might be related to pathogenic over-expression of B-cell-activating factor (BAFF) in primary Sjögren's syndrome (pSS) and other autoimmune diseases. We therefore investigated whether BAFF over-expression in pSS could be a primary, genetically determined event that leads to the disease. The complete BAFF gene was sequenced in Caucasian pSS patients and control individuals. The only single nucleotide polymorphism frequently observed, namely -871 T/C in the promoter region, was then genotyped in 162 French patients with pSS and 90 French control individuals. No significant differences in allele (T allele frequency: 49.7% in patients with pSS versus 50% in controls; P = 0.94) and genotype frequencies of BAFF polymorphism were detected between pSS patients and control individuals. BAFF gene polymorphism was not associated with a specific pattern of antibody secretion either. T allele carriers had significantly increased BAFF protein serum levels (mean values of 8.6 and 5.7 ng/ml in patients with TT and TC genotypes, respectively, versus 3.3 ng/ml in patients with CC genotype; P = 0.01), although no correlation was observed between BAFF polymorphism and mRNA level. In conclusion, BAFF gene polymorphism is neither involved in genetic predisposition to pSS nor associated with a specific pattern of antibody production.