维生素D受体基因与广西壮族骨质疏松相关性研究  

Correlation between vitamin D receptor gene and osteoporosis in Guangxi Zhuang people

作　　者：周敏[1] 宁宁 王金花[1] ZHOU Min;NING Ning;WANG Jin-hua(Youjiang Medical University for Nationalities,Baise,Guangxi 533000,China;不详)

机构地区：[1]右江民族医学院,广西百色533000 [2]汕头大学医学院,广东汕头515000

出　　处：《现代预防医学》2022年第4期746-751,共6页Modern Preventive Medicine

基　　金：国家自然科学基金项目(81560239);2021年度百色市科学研究与技术开发计划课题(百科字[2021]23号,百科20212350);右江民族医学院第五届校级教学名师(右医院字[2019]114号)。

摘　　要：目的探讨维生素D受体(VDR)基因4个单核苷酸多态性(SNPs)位点与壮族中老年人骨质疏松的关系。方法选取骨量正常的113例壮族中老年和骨量减少的74例、骨质疏松的196例壮族中老年人合并为骨量减少病例组进行病例对照研究。采用KASP基因分型技术对壮族中老人VDR基因的4个位点(rs731236、rs7975323、rs2228570、rs1544410)进行基因分型。结果壮族中老年人骨密度随年龄增长逐年下降,logistic回归结果显示年龄(P<0.001,OR=1.053),去脂体重(P<0.001,OR=0.911)是影响壮族中老年人骨密度的主要因素。VDR基因4个位点均符合Hardy-Weinberg遗传平衡定律(P>0.05),rs2228570位点GG基因型与骨量减少风险相关(OR=3.360,95%CI=1.565~7.215,P=0.002),等位基因A和G相比差异具有统计学意义(P<0.05)。rs7975323与rs731236位点呈完全连锁不平衡(D’=1.000),rs1544410与rs731236呈强连锁不平衡(D’=0.638,r2=0.367),rs1544410与rs7975323呈强连锁不平衡(D’=0.799)。结论年龄、去脂体重是壮族中老年人骨密度的主要影响因素,VDR基因rs2228570位点的GG基因型是骨量减少的危险因素,等位基因G可能是骨质疏松的遗传易感基因,增加中老年人骨量减少、骨质疏松的发病风险。Objective To explore the relationship between four single nucleotide polymorphisms(SNPs)of vitamin D receptor(VDR)gene and osteoporosis in middle-aged and elderly Zhuang people of Guangxi.Methods A case-control study was conducted on 113 middle-aged and elderly Zhuang people with normal bone mass,74 cases with bone mass reduction and196 cases with osteoporosis.The four loci(rs731236,rs7975323,rs2228570 and rs1544410)of the VDR gene of the elderly in Zhuang people were genotyped by KASP genotyping technique.Results Bone mineral density(BMD)of middle-aged and elderly Zhuang people decreased with age year by year.The logistic regression results showed that age(P<0.001,OR=1.053)and defatted weight(P<0.001,OR=0.911)were the factors affecting the bone mineral density of middle-aged and elderly Zhuang people.The four loci of VDR gene all conformed to Hardy-Weinberg equilibrium law(P>0.05).The SNP rs2228570 GG genotype was significantly associated with the risk of bone loss(OR=3.36,95%CI:1.565-7.215,P=0.002),and the difference was statistically significant(P<0.05)compared to its alleles A and G.The SNP rs7975323 showed complete linkage disequilibrium with rs731236 locus(D’=1.000),rs1544410 showed strong linkage disequilibrium with rs731236(D’=0.638,r2=0.367),and rs1544410 showed strong linkage disequilibrium with rs7975323(D’=0.799).Conclusion Age and fat-free weight are the main influencing factors of BMD in middle-aged and elderly Zhuang people.GG genotype at rs2228570 locus of VDR gene is a risk factor for bone loss.Its allele G may contribute to the susceptibility to osteoporosis,increasing the risk of bone loss and osteoporosis in middle-aged and elderly Zhuang people.

关 键 词：壮族中老年人 维生素D受体基因 骨质疏松 骨密度 

分 类 号：R580[医药卫生—内分泌]