IL12A 和 IL12B 多态性对沙眼衣原体引起的输卵管性不孕及疾病严重程度的影响。
Effect of IL12A and IL12B polymorphisms on the risk of Chlamydia trachomatis-induced tubal factor infertility and disease severity.
机构信息
National Institute for Health and Welfare, Oulu, Finland.
出版信息
Hum Reprod. 2012 Jul;27(7):2217-23. doi: 10.1093/humrep/des136. Epub 2012 May 11.
BACKGROUND
Interleukin-12 (IL-12) and related cytokines induce activation and differentiation of T cells. Our aim was to investigate the associations between genetic differences in IL-12-family cytokines and the pathogenesis of chlamydial disease.
METHODS
The final study population consisted of 100 women with Chlamydia trachomatis-induced tubal factor infertility (TFI) and 125 pregnant women as controls. Three single nucleotide polymorphisms (SNPs) of IL12A and seven SNPs of IL12B genes were determined from isolated DNA using the Sequenom system with matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry.
RESULTS
We found that the IL12B SNP rs3212227 was associated with both susceptibility and severity of TFI. The minor allele C was rare and only one CC homozygote was found among the controls. AC heterozygotes were more common among TFI cases than among controls (P = 0.009) and were associated with increased risk of TFI [odds ratios (OR) = 2.44, 95% confidence intervals (CI) = 1.23-4.87]. Carrying the minor allele C was also associated with disease severity (P for trend = 0.008) and moderate (OR = 2.51, 95% CI = 1.06-5.95) and severe tubal damage (OR = 2.73, 95% CI = 1.15-6.52).
CONCLUSIONS
The results suggest that variation in the IL12B gene partly explains inter-individual differences in disease susceptibility and severity.
背景
白细胞介素-12（IL-12）和相关细胞因子诱导 T 细胞的激活和分化。我们的目的是研究 IL-12 家族细胞因子的遗传差异与衣原体疾病发病机制之间的关系。
方法
最终的研究人群包括 100 名患有沙眼衣原体引起的输卵管因素不孕（TFI）的女性和 125 名作为对照的孕妇。使用基质辅助激光解吸/电离飞行时间（MALDI-TOF）质谱法从分离的 DNA 中确定了 IL12A 的三个单核苷酸多态性（SNP）和 IL12B 基因的七个 SNP。
结果
我们发现 IL12B SNP rs3212227 与 TFI 的易感性和严重程度均相关。罕见的次要等位基因 C 仅在对照组中发现一个 CC 纯合子。AC 杂合子在 TFI 病例中比在对照组中更为常见（P=0.009），并且与 TFI 的风险增加相关[比值比（OR）=2.44，95%置信区间（CI）=1.23-4.87]。携带次要等位基因 C 也与疾病严重程度相关（趋势 P=0.008），且与中度（OR=2.51，95%CI=1.06-5.95）和重度输卵管损伤（OR=2.73，95%CI=1.15-6.52）相关。
结论
结果表明，IL12B 基因的变异部分解释了个体间疾病易感性和严重程度的差异。
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