CAJ | 학술논문

目的探讨成纤维细胞生长因子受体2(FGFR2)基因多态性与地方性氟中毒(简称地氟病)的相关性.方法在贵州省毕节市的燃煤型高氟地区,抽取氟中毒患者148例作为地氟病组;同时在贵州省长顺县的非高氟地区,抽取健康体检人群134例作为对照组.采集研究对象空腹静脉血,提取基因组DNA,采用短串联重复序列-聚合酶链式反应(STRs-PCR),对地氟病及对照人群FGFR2 STR位点rs35668561及D10S14839进行多态性分析.结果地氟病组FGFR2 STR位点rs35668561的461 bp(22AG)等位基因频率(1.01％)低于对照组(3.36％,x2=5.29,P＜0.05).地氟病组FGFR2 STR位点D10S14839的286 bp(9GT)、300bp(16GT)、310 bp(21GT)及314 bp (23GT)等位基因频率(14.53％、11.82％、16.89％、8.11％)与对照组(22.01％、6.34％、8.96％、16.42％)比较差异有统计学意义.其中地氟病组300bp(16GT)及310 bp(21GT)等位基因频率高于对照组(x2=6.82、7.77,P均＜0.05),286 bp(9GT)及314 bp(23GT)等位基因频率低于对照组(x2=5.32、9.16,P均＜ 0.05).结论 FGFR2 STR位点rs35668561及D10S14839多态性与地氟病有关.其中rs35668561的461 bp(22AG)等位基因可能是地氟病发病的一个保护性因素;D10S14839的300bp(16GT)、310 bp(21GT)等位基因可能是地氟病发病的一个风险因子,286 bp(9GT)、314 bp(23GT)等位基因则可能是保护性因素.
목적 탐토성섬유세포생장인자수체2(FGFR2)기인다태성여지방성불중독(간칭지불병)적상관성.방법 재귀주성필절시적연매형고불지구,추취불중독환자148례작위지불병조;동시재귀주성장순현적비고불지구,추취건강체검인군134례작위대조조.채집연구대상공복정맥혈,제취기인조DNA,채용단천련중복서렬-취합매련식반응(STRs-PCR),대지불병급대조인군FGFR2 STR위점rs35668561급D10S14839진행다태성분석.결과 지불병조FGFR2 STR위점rs35668561적461 bp(22AG)등위기인빈솔(1.01％)저우대조조(3.36％,x2=5.29,P＜0.05).지불병조FGFR2 STR위점D10S14839적286 bp(9GT)、300bp(16GT)、310 bp(21GT)급314 bp (23GT)등위기인빈솔(14.53％、11.82％、16.89％、8.11％)여대조조(22.01％、6.34％、8.96％、16.42％)비교차이유통계학의의.기중지불병조300bp(16GT)급310 bp(21GT)등위기인빈솔고우대조조(x2=6.82、7.77,P균＜0.05),286 bp(9GT)급314 bp(23GT)등위기인빈솔저우대조조(x2=5.32、9.16,P균＜ 0.05).결론 FGFR2 STR위점rs35668561급D10S14839다태성여지불병유관.기중rs35668561적461 bp(22AG)등위기인가능시지불병발병적일개보호성인소;D10S14839적300bp(16GT)、310 bp(21GT)등위기인가능시지불병발병적일개풍험인자,286 bp(9GT)、314 bp(23GT)등위기인칙가능시보호성인소.
Objective To investigate the correlation between fibroblast growth factor receptor 2 (FGFR2) gene polymorphism and endemic fluorosis.Methods In Bijie City,Guizhou Province coal-burning-borne high fluoride areas,148 patients with fluorosis were selected as endemic fluorosis group;in non high fluoride areas of Changshun County of Guizhou Province,134 healthy people were selected as control group.Short tandem repeats (STRs)-PCR was utilized to detected the FGFR2 rs35668561 and D10S14839 microsatellite polymorphisms in endemic fluorosis cases and controls.Results FGFR2 rs35668561 461 bp (22AG)allele frequency of endemic fluorosis group (1.01％) was significantly lower than that of the control group (3.36％,x2 =5.29,P ＜ 0.05).FGFR2 D10S14839 286 bp (9GT),300 bp (16GT),310 bp (21GT) and 314 bp (23GT) allele frequency in the endemic fluorosis group were 14.53％,11.82％,16.89％ and 8.11％,in the control group were 22.01％,6.34％,8.96％ and 16.42％,the difference was statistically significant.Then 300 bp (16GT)and 310 bp (21GT)allele frequency of endemic fluorosis group was significantly higher than that of the control group (x2 =6.82,7.77,all P ＜ 0.05),and 286 bp (9GT),314 bp (23GT) allele frequency of endemic fluorosis group was significantly lower than that of the control group (x2 =5.32,9.16,all P ＜ 0.05).Conclusions FGFR2 rs35668561 and D10S14839 polymorphism are associated with endemic fluorosis.FGFR2 rs35668561 461 bp (22AG) allele may be a protective factor of endemic fluorosis.D10S14839 300 bp (16GT) and 310 bp (21GT) allele may be risk factors of endemic fluorosis,286 bp (9GT) and 314 bp (23GT) allele may be protective factors of endemic fluorosis.