本文選題：維生素D受體基因多態(tài)性 + 降鈣素受體基因多態(tài)性　； 參考：《廣東醫(yī)學》2017年09期

【摘要】：目的研究維生素D受體(VDR)和降鈣素受體(CTR)基因多態(tài)性與新疆地區(qū)漢族女性人群骨密度(BMD)的關系,探討原發(fā)性骨質(zhì)疏松癥發(fā)病的遺傳易感因素。方法采用聚合酶鏈反應(PCR-RFLP)限制性片段長度多態(tài)性技術,對336例新疆地區(qū)漢族女性人群的VDR和CTR基因進行多態(tài)性分析,雙能X線吸收法測定受試者L_(2~4)、Ward's三角、大粗隆、股骨干4個部位的BMD值,比較不同基因型各部位BMD值的差異。結果(1)336例受試者VDR、CTR受體基因型頻率分布均符合Hardy-Weinberg定律,90例骨質(zhì)疏松組與246例非骨質(zhì)疏松組VDR與CTR基因型分布頻率差異無統(tǒng)計學意義(P0.05)。(2)年齡與不同部位BMD值之間呈負相關(P0.05),體質(zhì)指數(shù)與BMD值之間呈正相關(P0.05),在將年齡和體質(zhì)指數(shù)進行校正后發(fā)現(xiàn)非骨質(zhì)疏松組中CTR CT基因型在Ward's三角的BMD值高于CC基因型(P0.05);VDR Bb基因型在L_(2~4)、Ward's三角部位BMD均低于bb型(P0.05),Bb基因型的BMD值在大粗隆、股骨干部位較bb型有降低趨勢(P0.05);VDRCTR復合基因CCBb型的BMD值最低。結論年齡與BMD值變化密切相關;體質(zhì)指數(shù)是新疆漢族女性非骨質(zhì)疏松的保護性因素,適當增加體重對防治骨質(zhì)疏松有積極的意義;VDR Bb基因型與BMD降低密切相關;VDR-CTR復合基因CCBb型可作為預測新疆地區(qū)女性發(fā)生骨質(zhì)疏松危險性的遺傳學標志。
[Abstract]:Objective to study the relationship between the polymorphism of vitamin D receptor (VDR) and calcitonin receptor (CTRR) gene and bone mineral density (BMD) in Han women in Xinjiang, and to explore the genetic predisposing factors of primary osteoporosis. Methods Polymerase chain reaction PCR-RFLP restriction fragment length polymorphism (RFLP) technique was used to analyze the polymorphism of VDR and CTR genes in 336 Han women in Xinjiang. The BMD values of four parts of the femoral shaft were compared with the BMD values of different genotypes. Results the frequency distribution of VDR and CTR genotypes in 336 subjects were in accordance with Hardy-Weinberg 's law. There was no significant difference between VDR and CTR genotypes in 90 cases of osteoporosis and 246 cases of non-osteoporosis. There was a positive correlation between body mass index (BMI) and BMD value. After adjusting age and BMI, it was found that the BMD value of CTR CT genotype in Ward's triangle was higher than that of CC genotype in Ward's triangle. The BMD value of BMD was lower than that of BB genotype P0.05Bb. The BMD value of the CCBb gene of the femoral shaft was lower than that of the BB type. Conclusion Age is closely related to the change of BMD, and BMI is the protective factor of non-osteoporosis in Han women in Xinjiang. Proper weight gain has positive significance for prevention and treatment of osteoporosis. VDR-CTR complex gene CCBb type can be used as a genetic marker to predict the risk of osteoporosis in women in Xinjiang area. The VDR-CTR genotype is closely related to the decrease of BMD.
【作者單位】： 石河子大學醫(yī)學院第一附屬醫(yī)院骨科中心關節(jié)外科;中國人民解放軍第四七四醫(yī)院藥劑科;
【基金】：國家自然科學基金資助項目(編號:81360451,81660374) 兵團科技領軍人才專項基金(編號:2016BC001) 兵團骨科創(chuàng)新團隊專項(編號:2014CC002)
【分類號】：R580

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