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VKORC1 单倍型在五个东亚人群和印度人群中的分布。

VKORC1 haplotypes in five East-Asian populations and Indians.

机构信息

Institute of Biomedical Sciences, Academia Sinica, 128 Academia Road, Section 2, NanKang, Taipei, Taiwan.

出版信息

Pharmacogenomics. 2009 Oct;10(10):1609-16. doi: 10.2217/pgs.09.80.

Abstract

AIMS

Warfarin, a widely prescribed oral anticoagulant, is used for the prevention of thromboembolism. Several polymorphisms in VKORC1 have been shown to be associated with warfarin dose requirements. The frequencies of these VKORC1 polymorphisms display population differences; however, this has not been examined in many populations. In this study, we examined VKORC1 polymorphisms in five East-Asian populations (Han Chinese, Indonesian, Filipino, Thai and Vietnamese) and Indians.

MATERIALS & METHODS: A total of six SNPs in the VKORC1 gene (-1639G>A, 497T>G, 1173C>T, 1542T>G, 2255C>T and 3730G>A) were genotyped. Frequencies, linkage disequilibrium and haplotype structures of these six VKORC1 SNPs were analyzed.

RESULTS

Our data showed that 497T>G is only polymorphic in the Indian population. The 497G allele is very rare in the East-Asian populations (frequency < 1%). The remaining SNPs demonstrated high linkage disequilibrium and had similar frequencies and haplotype structures in all but the Indian population. The Indian population is mostly made up of the H7 haplotype (76%) while the rest of the recruited populations consisted of the H1 haplotype (> 80%).

摘要

目的

华法林是一种广泛应用于预防血栓栓塞的口服抗凝药物。VKORC1 中的几个多态性已被证明与华法林剂量需求有关。这些 VKORC1 多态性的频率在不同人群中存在差异;然而,这在许多人群中尚未得到研究。在这项研究中,我们研究了五个东亚人群(汉族、印度尼西亚人、菲律宾人、泰国人和越南人)和印度人中的 VKORC1 多态性。

材料与方法

共对 VKORC1 基因中的 6 个 SNP(-1639G>A、497T>G、1173C>T、1542T>G、2255C>T 和 3730G>A)进行了基因分型。分析了这 6 个 VKORC1 SNP 的频率、连锁不平衡和单倍型结构。

结果

我们的数据表明,497T>G 仅在印度人群中是多态性的。497G 等位基因在东亚人群中非常罕见(频率<1%)。除了印度人群之外,其余的 SNP 显示出高度的连锁不平衡,并且具有相似的频率和单倍型结构。印度人群主要由 H7 单倍型(76%)组成,而其他被招募的人群则由 H1 单倍型(>80%)组成。

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