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ALOX5AP 的启动子多态性 (rs17222919,-1316T/G) 与韩国人群的脑出血有关。

A Promoter polymorphism (rs17222919, -1316T/G) of ALOX5AP is associated with intracerebral hemorrhage in Korean population.

机构信息

Department of Physical Medicine & Rehabilitation, Kyung Hee University, Seoul, Republic of Korea.

出版信息

Prostaglandins Leukot Essent Fatty Acids. 2011 Sep-Oct;85(3-4):115-20. doi: 10.1016/j.plefa.2011.07.004. Epub 2011 Aug 3.

DOI:10.1016/j.plefa.2011.07.004
PMID:21816595
Abstract

To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are associated with intracerebral hemorrhage (ICH) and ischemic stroke (IS), seven SNPs in the coding or promoter regions were selected: ALOX12 (rs434473, Asn322Ser), ALOX5 (rs2228064, Thr90Thr), ALOX5AP (rs17222919, -1316T/G), PTGES (rs7872802, -404A/G), PTGIS (rs5628, Leu256Leu), PTGS1 (rs3842788, Gln41Gln) and PTGS2 (rs5275, 3'UTR). A total of 398 control subjects and 196 stroke patients (79 ICH and 117 IS) were genotyped by direct sequencing. The rs17222919 SNP was associated with ICH in codominant 1 (P=0.008), dominant (P=0.003) and log-additive (P=0.004) models. Allele frequencies of rs17222919 were different between ICH and controls (P=0.007). However, the seven tested SNPs were not associated with clinical phenotypes (NIHSS, MBI and CRPS) in ICH and IS. These results suggest that the promoter SNP rs17222919 of ALOX5AP may be associated with the development of ICH in Korean population.

摘要

为了研究花生四烯酸生物合成基因的单核苷酸多态性(SNPs)是否与脑出血(ICH)和缺血性脑卒中(IS)有关,选择了编码或启动子区域中的 7 个 SNPs:ALOX12(rs434473,Asn322Ser)、ALOX5(rs2228064,Thr90Thr)、ALOX5AP(rs17222919,-1316T/G)、PTGES(rs7872802,-404A/G)、PTGIS(rs5628,Leu256Leu)、PTGS1(rs3842788,Gln41Gln)和 PTGS2(rs5275,3'UTR)。通过直接测序,对 398 名对照受试者和 196 名脑卒中患者(79 名 ICH 和 117 名 IS)进行了基因分型。rs17222919 SNP 与 1 种显性模型(P=0.008)、显性模型(P=0.003)和对数相加模型(P=0.004)中的 ICH 相关。rs17222919 的等位基因频率在 ICH 和对照组之间存在差异(P=0.007)。然而,在 ICH 和 IS 中,这 7 个测试的 SNPs 与临床表型(NIHSS、MBI 和 CRPS)无关。这些结果表明,韩国人群中 ALOX5AP 的启动子 SNP rs17222919 可能与 ICH 的发展有关。

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