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糖皮质激素合成相关基因:妊娠期高血压疾病中的 HSD11B1 和 HSD11B2。

Glucocorticoid synthesis-related genes: HSD11B1 and HSD11B2 in hypertensive disorders in pregnancy.

机构信息

Department of Internal Medicine, Iida Municipal Hospital, Nagano, Japan.

出版信息

Gynecol Endocrinol. 2013 Jul;29(7):657-61. doi: 10.3109/09513590.2013.788623. Epub 2013 May 9.

DOI:10.3109/09513590.2013.788623
PMID:23659736
Abstract

OBJECTIVE

To determine whether polymorphisms of the maternal glucocorticoid-related genes (HSD11B1 and HSD11B2) are associated with pregnancy-induced hypertension (PIH) in a haplotype-based case-control study.

METHODS

A total of 166 PIH patients and 222 age-matched controls were genotyped, with two single-nucleotide polymorphisms (SNPs) for the HSD11B1 gene (rs2235543 and rs846910) and three SNPs for the HSD11B2 gene (rs12920590, rs45483293 and rs3743729) used as genetic markers. After separation into preeclampsia (PE) and gestational hypertension (GH) subgroups, PIH patients were assessed.

RESULTS

Significant differences were noted between PE and control groups (p = 0.022, p = 0.034, respectively) for the frequency of genotypes and alleles for rs846910 of HSD11B1. The frequency of the AA genotype of rs846910 was significantly higher in PIH and PE groups compared to controls. Logistic regression analyses showed that this genotype was a risk factor for PIH and PE (adjusted OR 2.9, 95% CI 1.3-6.5 and adjusted OR 3.2, 95% CI 1.4-7.4, respectively). The frequency of the T-A haplotype established by rs2235543-rs846910 was also significantly higher in PIH and PE groups (p = 0.045, p = 0.042, respectively).

CONCLUSION

rs846910 in the HSD11B1 gene could be a marker for hypertensive disorders during pregnancy. The T-A haplotype constructed by rs2235543-rs846910 was also a useful susceptibility marker for PIH and PE.

摘要

目的

在基于单体型的病例对照研究中,确定母体糖皮质激素相关基因(HSD11B1 和 HSD11B2)的多态性是否与妊娠高血压(PIH)相关。

方法

共对 166 名 PIH 患者和 222 名年龄匹配的对照进行了基因分型,使用两个 HSD11B1 基因的单核苷酸多态性(SNP)(rs2235543 和 rs846910)和三个 HSD11B2 基因的 SNP(rs12920590、rs45483293 和 rs3743729)作为遗传标记。将 PIH 患者分为子痫前期(PE)和妊娠期高血压(GH)亚组后进行评估。

结果

HSD11B1 基因 rs846910 的基因型和等位基因频率在 PE 组和对照组之间存在显著差异(p = 0.022,p = 0.034)。与对照组相比,rs846910 的 AA 基因型在 PIH 和 PE 组中的频率显著更高。Logistic 回归分析表明,该基因型是 PIH 和 PE 的危险因素(调整后的 OR 2.9,95%CI 1.3-6.5 和调整后的 OR 3.2,95%CI 1.4-7.4)。rs2235543-rs846910 建立的 T-A 单体型在 PIH 和 PE 组中的频率也显著更高(p = 0.045,p = 0.042)。

结论

HSD11B1 基因中的 rs846910 可能是妊娠高血压疾病的标志物。rs2235543-rs846910 构建的 T-A 单体型也是 PIH 和 PE 的有用易感标志物。

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