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[长沙汉族人群激肽释放酶1基因单核苷酸多态性与脑出血的相关性]

[Association of single nucleotide polymorphisms of kallikrein 1 gene with cerebral hemorrhage in Changsha Han Chinese].

作者信息

Zeng Yi, Zhang Le, Hu Zhong-yang, Yang Qi-dong, Liu Bao-qiong, Ma Ming-ming, Liu Yun-hai, Xu Hong-wei, Xia Jian, Du Xiao-ping, Hu Zhi-ping

机构信息

Department of Geriatrics, Second Xiangya Hospital, Central South University, Changsha, Hunan, 410011 PR China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Jun;27(3):316-9. doi: 10.3760/cma.j.issn.1003-9406.2010.0.017.

Abstract

OBJECTIVE

To explore the association between single nucleotide polymorphisms (SNPs) of KLK1 gene and cerebral hemorrhage in Changsha Han Chinese.

METHODS

Two hundred and seventy-three cerebral hemorrhage (CH) patients and 140 healthy controls were collected. The SNPs of rs5516 and rs5517 loci of KLK1 gene were analyzed by SNaPshot methods and direct sequencing.

RESULTS

(1)Genotype and allele frequencies in rs5516 locus had no difference between the CH patients and controls (P> 0.05). However, the A allele frequency of the rs5517 locus in CH patients was higher than that in the control group (0.419, 0.321 respectively, P< 0.05). (2)In the control group,the levels of diastolic blood pressure (DBP) of the GA and AA genotype carriers of the rs5517 locus were significantly higher than those of the GG genotype (P< 0.05), while the levels of blood pressure were not significantly different among different genotypes of the rs5516 polymorphism in both CH patients and the control group(P> 0.05).

CONCLUSION

Author's preliminary results suggested that the rs5517 polymorphism was associated with cerebral hemorrhage, while the rs5516 polymorphism was not in Changsha Han Chinese.

摘要

目的

探讨长沙汉族人群激肽释放酶1(KLK1)基因单核苷酸多态性(SNP)与脑出血的关系。

方法

收集273例脑出血(CH)患者和140例健康对照者。采用SNaPshot方法和直接测序法分析KLK1基因rs5516和rs5517位点的SNP。

结果

(1)rs5516位点的基因型和等位基因频率在CH患者和对照组之间无差异(P>0.05)。然而,CH患者rs5517位点的A等位基因频率高于对照组(分别为0.419、0.321,P<0.05)。(2)在对照组中,rs5517位点GA和AA基因型携带者的舒张压(DBP)水平显著高于GG基因型(P<0.05),而在CH患者和对照组中,rs5516多态性不同基因型间血压水平无显著差异(P>0.05)。

结论

作者的初步结果表明,在长沙汉族人群中,rs5517多态性与脑出血有关,而rs5516多态性与脑出血无关。

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