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12q24.12基因座在子痫前期发病中的作用:一项意大利病例对照研究。

Role of the 12q24.12 locus in the onset of preeclampsia: an Italian case-control study.

作者信息

Di Gaetano Cornelia, Marozio Luca, Voglino Floriana, Guarrera Simonetta, Tancredi Annalisa, Gibbone Elena, Benedetto Chiara, Gasparini Mauro, Piazza Alberto, Matullo Giuseppe

机构信息

Department of Genetics, Biology and Biochemistry, University of Turin, Italy.

出版信息

J Matern Fetal Neonatal Med. 2012 Aug;25(8):1228-32. doi: 10.3109/14767058.2011.636097. Epub 2011 Nov 29.

Abstract

OBJECTIVE

The 12q24.12 locus has been reported to be involved in the control of many traits and also in severe diseases such as cardiovascular disease, hypertension and some immune-related disease. To our knowledge, no study has been published so far investigating the role of this locus in the pathogenesis of preeclampsia (PE).

METHODS

We genotyped four single nucleotide polymorphisms (SNPs) in 12q24.12 locus in 198 preeclamptic, 224 chronic hypertensive and 265 normotensive women from Italy, to test the contribution polymorphisms/haplotypes on the onset of preeclampsia and their association with chronic hypertension.

RESULTS

No association was observed for any single SNP, while a common haplotype CGTG (21% in normotensive women) revealed a possible protective effect (OR 0.64, 95% CI 0.42-0.97) against preeclampsia.

CONCLUSIONS

Our data suggest that a common haplotype within 12q24.12 locus may be associated with a protective effect against preeclampsia. This observation may be linked with the potential role of this region in the control of microcirculation. To the best of our knowledge, our study is the first one that links the 12q24.12 locus with this life-threatening perinatal complication of unknown etiology. Further physiological and functional studies are needed to clarify the molecular mechanisms and pathways of preeclampsia.

摘要

目的

据报道,12q24.12基因座参与了许多性状的调控,也与心血管疾病、高血压和一些免疫相关疾病等严重疾病有关。据我们所知,目前尚未发表关于该基因座在子痫前期(PE)发病机制中作用的研究。

方法

我们对来自意大利的198名单纯性子痫前期患者、224名慢性高血压患者和265名血压正常的女性的12q24.12基因座中的四个单核苷酸多态性(SNP)进行了基因分型,以测试多态性/单倍型对子痫前期发病的影响及其与慢性高血压的关联。

结果

未观察到任何单个SNP有相关性,而一种常见单倍型CGTG(在血压正常的女性中占21%)显示出对子痫前期可能的保护作用(OR 0.64,95%CI 0.42 - 0.97)。

结论

我们的数据表明,12q24.12基因座内的一种常见单倍型可能与子痫前期的保护作用相关。这一观察结果可能与该区域在微循环控制中的潜在作用有关。据我们所知,我们的研究是首个将12q24.12基因座与这种病因不明的危及生命的围产期并发症联系起来的研究。需要进一步的生理和功能研究来阐明子痫前期的分子机制和途径。

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