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维生素D受体基因单倍型及组合基因型与血铅增高易感性的关系

ISSN号：1001-9391
期刊名称：《中华劳动卫生职业病杂志》
时间：0
分类：R394[医药卫生—医学遗传学;医药卫生—基础医学]
作者机构：[1]广州市职业病防治院,510620
相关基金：广东省医学科学研究基金资助项目（A2005603）;广东省广州市卫生局重点科技项目（2007-Zdi-02）

作者：张燕[1], 吴一行[1], 刘移民[1], 杨志前[1], 张程[1], 王紫嫣[1]

关键词：铅, 基因型, 受体, 多态性, 单核苷酸, Lead, Genotype, Roceptors, Polymorphism, single nucleotide

中文摘要：

目的探讨血铅增高易感性与中国汉族人群VDR基因BsmI（rs1544410）、Tru9I（rs757343）、ApaI（rs7975232）、TaqI（rs731236）组成单倍型及组合基因型之间的关联。方法根据GBZ37—2002《职业性慢性铅中毒诊断标准》，GBZ2．1-2007《工作场所有害因素职业接触限值第1部分化学有害物质》，按工作场所的铅烟、铅尘浓度将工人分为高接触组（工作场所铅尘≥0．05mg／m3，铅烟≥0．03mg／m3）、低接触组（铅尘〈0．05mg／m3，铅烟〈0．03mg／m3），高接触组中按血铅水平分为血铅正常组（用肝素抗凝管采集空腹外周静脉血5ml，用Qiagen试剂盒方法抽提基因组DNA，TaqMan探针法化学荧光等位基因鉴别试验检测单核苷酸多态性，Haploview软件进行单倍型的计算和两组比较。结果血铅正常组VDR基因BsmI、Tm9I、ApaI和TaqI和血铅增高组的分布符合遗传学Hardy．Weinbery平衡（Ｐ〉0．05）；与分布频率最高的单倍型CCCA相比，单倍型CCAA和单倍型CTCA是血铅增高的危险因素，OR（95％叫）分别为1．814（1．055—3．119）和1．919（1．040—3．540），发生血铅增高的风险高；与分布频率最高的组合基因型CC＋CC＋CC＋AA相比，组合基因型CC＋CC＋AC＋AA是血铅增高的危险因素，0R（95％C1）为2．800（1．282～6．116），发生血铅增高的风险高。结论VDR基因BsmI、Tru9I、ApaI、TaqI组成单倍型CCAA和单倍型CTCA，及组合基因型CC＋CC＋AC＋AA与血铅增高易感性有关。

英文摘要：

Objective To investigate the association of the haplotypes and genotype combinations of vitamin D receptor （VDR） Bsml （rs1544410）, Tru9I （rs757343）, ApaI （rs7975232）, and TaqI （rs731236） with the susceptibility to elevated blood lead in Chinese Han population. Methods According to Diagnostic Criteria of Occupational Chronic Lead Poisoning （GBZ 37-2002） and Occupational Exposure Limits for Hazardous Agents in the Workplace Part 1： Chemical Hazardous Agents （GBZ 2.1-2007）, the workers were divided into high-exposure group （lead dust ≥0.05 mg/m3, lead fume ≥0.03 mg/m3） and low-exposure group based on the concentrations of lead fume and lead dust in the workplace. The high-exposure group was further divided into normal-blood lead subgroup and high-blood lead subgroup. Fasting peripheral venous blood （5 ml） was collected using a heparin tube; genomic DNA was extracted from the peripheral blood cells with a Qiagen kit; single nucleotide polymorphisms were detected by allelic discrimination assay using TaqMan probes （carrying fluorescent dyes）; haplotypes were analyzed and compared by Haploview. Results VDR BsmI, Tru9I, ApaI, and TaqI were in Hardy-Weinberg equilibrium between the normal-blood lead subgroup and high- blood lead subgroup （P〉0.05）. Compared with haplotype CCCA which had the highest distribution frequency, haplotypes CCAA and CTCA were the high-risk factors for elevated blood lead （0R=1.814, 95%CI=1.055- 3.119; OR=1.919, 95%CI=1.040-3.540）. Compared with genotype combination CC＋CC＋CC＋AA which had the highest distribution frequency, genotype combination CC ＋CC ＋AC ＋AA was the high-risk factor for elevated blood lead （OR=2.800, 95%CI=1.282-6.116）. Conclusion As for VDR BsmI, Tru9I, ApaI, and TaqI, haplotypes CCAA and CTCA and genotype combination CC＋CC＋AC＋AA are associated with the susceptibility to elevated blood lead.

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