Association of mannose-binding lectin gene (MBL2) polymorphisms with rheumatoid arthritis in an Indian cohort of case-control samples
Association of mannose-binding lectin gene (MBL2) polymorphisms with rheumatoid arthritis in an Indian cohort of case-control samples
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DOI：
10.1007/s10038-005-0299-8
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发表时间：
2005-11-01
影响因子：
3.5
通讯作者：
Das, HR
中科院分区：
文献类型：
--
作者：
Gupta, B;Agrawal, C;Das, HR
甘露糖结合凝集素（MBL 2）基因的单核苷酸多态性以及血清MBL 2水平与各种自身免疫性疾病相关。我们调查了这种多态性和/或血清MBL 2水平是否与印度人群中的类风湿性关节炎（RA）相关。MBL 2基因的B变异体（密码子54）在印度健康人群中非常常见，在RA患者中显著较低（P= 6.35 × 10（-6））。我们在一个独立的对照个体队列中复制了这种关联（P=1.78x10（-5））。在-550 nt的启动子多态性显示，与不太严重的组相比，严重RA患者中的次要等位基因G的表达显著增加（P=0.003）。轻症组LYA单倍型频率显著增高（P=0.03），而重症组HYA单倍型频率显著增高（P=0.04）。血清MBL 2总体上没有观察到统计学显著差异，但LYA单倍型纯合个体的血清MBL 2水平显著低于HYA单倍型纯合个体（P=0.017）。因此，MBL 2基因的B变异体可能与我们研究人群中的RA保护相关，启动子多态性（-550 nt）似乎在疾病进展中起一定作用。
Single nucleotide polymorphisms in the mannose-binding lectin (MBL2) gene, as well as the serum MBL2 level, have been associated with various autoimmune diseases. We investigated whether such polymorphisms and/or the serum MBL2 level were associated with rheumatoid arthritis (RA) in an Indian population. The frequency of the B variant (codon 54) of the MBL2 gene was quite frequent in the healthy Indian population and was significantly (P=6.35x10(-6)) lower in RA patients. We replicated this association (P=1.78x10(-5)) in an independent cohort of control individuals. Promoter polymorphism at -550 nt showed a significant overrepresentation (P=0.003) of the minor allele G in severe RA patients compared with the less severe group. Haplotype LYA frequency was significantly (P=0.03) high in the less severe group, while the frequency of the HYA haplotype was significantly (P=0.04) increased in the severe RA patients. No statistically significant difference in serum MBL2 was observed as a whole, but the individuals homozygous for the LYA haplotype had significantly lower (P=0.017) serum MBL2 levels compared with individuals homozygous for the HYA haplotype. Therefore, the B variant of the MBL2 gene may be associated with protection from RA in our study population, and the promoter polymorphism (-550 nt) seems to have some role in disease progression.