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白细胞介素-21 基因的遗传变异与复发性特发性自然流产的风险。

Genetic variations in the interleukin-21 gene and the risk of recurrent idiopathic spontaneous miscarriage.

机构信息

Faculty of Pharmacy of Monastir, University of Monastir, Monastir, Tunisia.

出版信息

Eur Cytokine Netw. 2011 Jun;22(2):123-6. doi: 10.1684/ecn.2011.0287.

DOI:10.1684/ecn.2011.0287
PMID:21768062
Abstract

OBJECTIVES

Insofar as recurrent spontaneous miscarriage (RSM) is linked with dysregulated immunity and inflammatory changes, and given the pro-inflammatory role of interleukin-21 (IL-21), we examined the association between IL-21 polymorphisms and RSM.

METHODS AND RESULTS

IL-21 rs2055979, rs13143866, rs9992580, and rs4833837 were genotyped in 235 cases of RSM and 235 controls. Regression analysis was employed in assessing the contribution of IL-21 variants to the overall RSM risk. Higher minor allele and genotype frequencies of rs2055979 and rs13143866, but not rs9992580 or rs4833837, were seen in RSM patients than in the controls. IL-21 haplotype [rs9992580/rs4833837/rs2055979/rs13143866] analysis revealed a lower frequency of the TGCG haplotype, and a higher frequency of the GGCG and GAAA haplotypes in patients, thus conferring protection from or a susceptibility to RSM by these haplotypes respectively. Regression analysis confirmed the association of TGCG [OR (95%CI)=0.09 (0.05-0.16)], and GGCG [OR (95%CI)=2.52 (1.34-4.54)] and GAAA [OR (95%CI)=4.02 (2.20-7.70)] haplotypes, after adjusting for age and BMI.

CONCLUSIONS

Our findings indicate that IL-21 is a novel susceptibility gene for RSM.

摘要

目的

由于复发性自然流产(RSM)与免疫失调和炎症变化有关,并且白细胞介素-21(IL-21)具有促炎作用,因此我们研究了 IL-21 多态性与 RSM 之间的关系。

方法和结果

在 235 例 RSM 病例和 235 例对照中,对 IL-21 rs2055979、rs13143866、rs9992580 和 rs4833837 进行了基因分型。回归分析用于评估 IL-21 变异对总体 RSM 风险的贡献。在 RSM 患者中,rs2055979 和 rs13143866 的次要等位基因和基因型频率较高,而 rs9992580 和 rs4833837 则不然。IL-21 单倍型[rs9992580/rs4833837/rs2055979/rs13143866]分析显示 TGCG 单倍型频率较低,GGCG 和 GAAA 单倍型频率较高,因此这些单倍型分别对 RSM 具有保护作用或易感性。回归分析证实了 TGCG[OR(95%CI)=0.09(0.05-0.16)]和 GGCG[OR(95%CI)=2.52(1.34-4.54)]以及 GAAA[OR(95%CI)=4.02(2.20-7.70)]单倍型与 RSM 之间的关联,在调整年龄和 BMI 后。

结论

我们的研究结果表明,IL-21 是 RSM 的一个新的易感基因。

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