Cyclic AMP-Responsive Element Modulator α Polymorphisms Are Potential Genetic Risks for Systemic Lupus Erythematosus.
Cyclic AMP-Responsive Element Modulator α Polymorphisms Are Potential Genetic Risks for Systemic Lupus Erythematosus.
复制标题
环AMP反应元件调节剂α多态性是系统性红斑狼疮的潜在遗传风险
DOI：
10.1155/2015/906086
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发表时间：
2015
影响因子：
4.1
通讯作者：
Su Y
中科院分区：
文献类型：
--
作者：
Guo Q;Chen X;Du Y;Guo J;Su Y
为探讨环腺苷酸反应元件调节剂α（CREMα）基因多态性是否是系统性红斑狼疮（SLE）的新的易感因素，对889例SLE患者和825例健康对照者进行rs 1057108、rs 2295415、rs 11592925和rs 1148247 4个标签SNPs基因分型。对整个数据集或临床/血清学子集进行关联分析。相关性统计数据通过年龄和性别调整的logistic回归计算。与健康对照组相比，SLE患者rs 2295415和rs 1057108的G等位基因频率明显增高（rs 2295415：21.2%vs17.8%，OR1.244，P = 0.019; rs 1057108：30.8%vs27.7%，OR1.165，P = 0.049）。由rs 1057108和rs 2295415两个危险等位基因“G-G”构成的单倍型与SLE易感性密切相关（OR 1.454，P = 0.00056）。根据临床/血清学特征分层后，观察到rs 2295415与抗Sm抗体阳性SLE之间存在提示性关联（OR 1.382，P = 0.044）。有趣的是，rs 2295415对伴有肾脏疾病的SLE患者具有潜在的保护作用（OR 0.745，P = 0.032）。我们的数据首次证明CREMα SNPs rs 2295415和rs 1057108可能是SLE的新的遗传易感因素。SNP rs 2295415似乎赋予抗Sm抗体阳性SLE更高的风险，并可能对狼疮性肾炎起保护作用。
To investigate whether the cyclic AMP-responsive element modulator α (CREMα) polymorphisms are novel susceptibility factors for systemic lupus erythematosus (SLE), four tag SNPs, rs1057108, rs2295415, rs11592925, and rs1148247, were genotyped in 889 SLE cases and 825 healthy controls. Association analyses were performed on whole dataset or clinical/serologic subsets. Association statistics were calculated by age and sex adjusted logistic regression. The G allele frequencies of rs2295415 and rs1057108 were increased in SLE patients, compared with healthy controls (rs2295415: 21.2% versus 17.8%, OR 1.244, P = 0.019; rs1057108: 30.8% versus 27.7%, OR 1.165, P = 0.049). The haplotype constituted by the two risk alleles “G-G” from rs1057108 and rs2295415 displayed strong association with SLE susceptibility (OR 1.454, P = 0.00056). Following stratification by clinical/serologic features, a suggestive association was observed between rs2295415 and anti-Sm antibodies-positive SLE (OR 1.382, P = 0.044). Interestingly, a potential protective effect of rs2295415 was observed for SLE patients with renal disorder (OR 0.745, P = 0.032). Our data provide first evidence that CREMα SNPs rs2295415 and rs1057108 maybe novel genetic susceptibility factors for SLE. SNP rs2295415 appears to confer higher risk to develop anti-Sm antibodies-positive SLE and may play a protective role against lupus nephritis.