首页|VDRrs4073729基因多态性与围绝经期综合征的交互作用及对患者并发骨质疏松的影响

VDRrs4073729基因多态性与围绝经期综合征的交互作用及对患者并发骨质疏松的影响

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目的 探讨VDRrs4073729基因多态性(SNPs)与围绝经期综合征的交互作用及其对患者并发骨质疏松症的影响.方法 选取2019年10月至2023年1月在华北医疗健康集团石家庄华药医院就诊的围绝经期女性共199例及同期健康志愿者180例(对照组),再依据骨密度检测结果将围绝经期女性分为骨质疏松组(n=99)和非骨质疏松组(n=100).收集各组一般资料,采用X光线吸收仪检测受试者腰椎骨密度;采用酶联免疫法测定骨碱性磷酸酶、骨钙素等骨代谢指标.采用SNP基因分型PCR试剂(探针法)检测各组VDR基因rs4073729位点SNPs,计算基因型和等位基因频率,Logistic回归模型检测VDR基因rs4073729位点SNPs与围绝经期综合征交互作用对骨质疏松症的影响.结果 骨质疏松组年龄高于对照组(P<0.05);骨质疏松组、非骨质疏松组的骨钙素、骨碱性磷酸酶、腰椎骨密度T值均高于对照组(P<0.05).非骨质疏松组、骨质疏松组和对照组VDR基因rs4073729位点基因型频率分布情况符合Hardy-Weinberg遗传平衡定律(x2=1.667,P=0.373;x2=0.133,P=0.936;x2=0.864,P=0.469).非骨质疏松组、骨质疏松组GA/AG基因型分布频率最高,对照组GG基因型分布频率最高.以GG基因型为参照,携带VDR基因rs4073729-A等位基因的围绝经期患者与对照组健康者相比骨质疏松症患病风险更高,rs11037909-A等位基因多态性(GA+AA)个体疾病发生率高于GG基因型,校正年龄后OR=1.728,95%CI:1.125-2.331(P<0.05).Logistic回归分析结果表明无围绝经期综合征个体中携带GA/AA基因型的患骨质疏松症的风险高于携带GG基因型的患者(OR=4.105,95%CI:1.524-11.335),携带GG基因型的围绝经期综合征个体患骨质疏松症的风险高于携带相同基因型无围绝经期综合征个体(OR=3.626,95%CI:1.196-10.432).结论 携带VDR基因rs4073729-A等位基因是围绝经期妇女骨质疏松的危险因素,VDR基因rs4073729与围绝经期综合征交互作用会增加骨质疏松的易感性,VDR基因rs4073729-A等位基因与围绝经期综合征均是骨质疏松的高危因素,二者交互作用并发骨质疏松风险比无危险因素者高.
Interaction between VDRrs4073729 gene polymorphism and perimenopausal syndrome and its effect on patients complicated with osteoporosis
Objective To explore the interaction between VDRrs4073729 gene polymorphism and perimenopausal syndrome and its effect on patients complicated with osteoporosis. Methods A total of 199 perimenopausal women and 180 healthy volunteers ( control group) who visited North China Medical and Health Group Shijiazhuang Huayao Hospital from October 2019 to January 2023 were enrolled,and perimenopausal women were divided into osteoporosis group ( n=99 ) and non-osteoporosis group ( n=100 ) according to bone density testing. The general data of the subjects in each group were collected,and the bone mineral density of the lumbar vertebrae was detected by X-ray absorptiometry. Enzyme-linked immunoassay ( ELISA) was used to determine bone alkaline phosphatase,osteocalcin and other bone metabolism indexes. SNPs at rs4073729 in VDR gene were detected by SNP genotyping PCR reagent ( probe method ),genotype and allele frequencies were calculated,and the interaction between rs4073729 SNPs and perimenopausal syndrome in VDR gene was detected by Logistic regression model. Results The age of the osteoporosis group was higher than that of the control group ( P<0.05 ),and the T value of lumbar bone mineral density,bone alkaline phosphatase and osteocalcin in non-osteoporosis group and osteoporosis group were higher than those of the control group ( P<0.05 ) . The genotype distribution of rs4073729 in non-osteoporosis group,osteoporosis group and control group conformed to Hardy-Weinberg's law ( x2=1.667,P=0.373;x2=0.133,P=0.936;x2=0.864,P=0.469). The frequency of GA/AG genotype distribution was the highest in the non-osteoporosis group and osteoporosis group,and the frequency of GG genotype distribution was the highest in the control group. Perimenopausal patients with the rs4073729-A allele of VDR gene had a higher risk of osteoporosis than healthy individuals of control group,and the incidence of disease in individuals with rs11037909-A allele polymorphism ( GA+AA) was higher than that of GG genotype,with adjusted age OR=1.728,95% CI:1.125-2.331 (P<0.05). Logistic regression analysis showed that individuals with GA/AA genotype had a higher risk of osteoporosis than individuals with GG genotype (OR=4.105,95%CI:1.524-11.335),and individuals with perimenopausal syndrome with GG genotype had a higher risk of osteoporosis than individuals with the same genotype without perimenopausal syndrome (OR=3.626,95%CI:1.196-10.432).Conclusion The VDR gene rs4073729-A allele is a risk factor for osteoporosis in perimenopausal women,and the interaction between VDR gene rs4073729 and perimenopausal syndrome increases the susceptibility to osteoporosis,and the VDR gene rs4073729-A allele and perimenopausal syndrome are both high-risk factors for osteoporosis,and the risk of osteoporosis after the interaction between the two is higher than that of those without risk factors.

vitamin D receptorgene polymorphismperimenopausal syndromeosteoporosisinteractions

李园、薛乔、赵英英、薛国丽

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050000 河北 石家庄,华北医疗健康集团石家庄华药医院妇产科

054001 河北 邢台,邢台市人民医院内分泌科

050000 河北 石家庄,河北省妇幼保健中心功能检验科

维生素D受体 基因多态性 围绝经期综合征 骨质疏松 交互作用

2024

中国计划生育和妇产科
中国医师协会 四川省医学情报研究所

中国计划生育和妇产科

CSTPCD
影响因子:1.116
ISSN:1674-4020
年,卷(期):2024.16(11)