CAJ | 학술논문

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》,GBZ 2.1-2007《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≥0.05 mg/m3,铅烟≥0.03mg/m3)、低接触组(铅尘＜0.05 mg/m3,铅烟＜0.03 mg/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5 ml,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、Tru9I 、ApaI和TaqI和血铅增高组的分布符合遗传学Hardy-Weinbery平衡(P＞O.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％CI)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,OR(95％CI)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.
목적 탐토혈연증고역감성여중국한족인군VDR기인BsmI(rs1544410)、Tru9I(rs757343)、ApaI (rs7975232)、TaqI (rs731236)조성단배형급조합기인형지간적관련.방법 근거GBZ37-2002《직업성만성연중독진단표준》,GBZ 2.1-2007《공작장소유해인소직업접촉한치제1부분화학유해물질》,안공작장소적연연、연진농도장공인분위고접촉조(공작장소연진≥0.05 mg/m3,연연≥0.03mg/m3)、저접촉조(연진＜0.05 mg/m3,연연＜0.03 mg/m3),고접촉조중안혈연수평분위혈연정상조(용간소항응관채집공복외주정맥혈5 ml,용Qiagen시제합방법추제기인조DNA,TaqMan탐침법화학형광등위기인감별시험검측단핵감산다태성,Haploview연건진행단배형적계산화량조비교.결과 혈연정상조VDR기인BsmI、Tru9I 、ApaI화TaqI화혈연증고조적분포부합유전학Hardy-Weinbery평형(P＞O.05)；여분포빈솔최고적단배형CCCA상비,단배형CCAA화단배형CTCA시혈연증고적위험인소,OR(95％CI)분별위1.814(1.055～3.119)화1.919(1.040～3.540),발생혈연증고적풍험고；여분포빈솔최고적조합기인형CC+CC+CC+AA상비,조합기인형CC+CC+AC+AA시혈연증고적위험인소,OR(95％CI)위2.800(1.282～6.116),발생혈연증고적풍험고.결론 VDR기인BsmI、Tru9I、ApaI、TaqI조성단배형CCAA화단배형CTCA,급조합기인형CC+CC+AC+AA여혈연증고역감성유관.
Objective To investigate the association of the haplotypes and genotype combinations of vitamin D receptor (VDR) BsmI (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,Apal,and Taql were in Hardy-Weinberg equilibrium between the normal-blood lead subgroup and highblood 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+C C+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).Condusion 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.