降钙素受体基因多态性与新疆维吾尔族小儿上尿路含钙结石的关系研究

Correlation between calcitonin receptor gene polymorphism and upper urinary tract stone in Uyghur children in Xinjiang

目的：探讨降钙素受体（CTR）基因多态性与新疆维吾尔族小儿上尿路含钙结石形成的关系。方法选择新疆维吾尔族上尿路含钙结石患儿为试验组（n＝89）、维吾尔族正常儿童为对照组（n＝121），提取外周血基因组DNA，应用聚合酶链反应-限制性片段长度多态性方法检测并分析 CTR基因多态性的分布频率。结果（1）对照组CTR基因CC型100例（82．64％），CT型21例（17．36％），TT型0例；试验组 CTR基因 CC型62例（69．66％），CT型23例（25．84％），TT型4例（4．49％）。试验组CC基因型和CT＋TT基因型与对照组差异有统计学意义（P ＝0．003，χ^2＝8．746，OR＝0．482，95％CI：0．251-0．926）。（2）两组CTR中携带C等位基因的人群患上尿路含钙结石的危险性高于携带T等位基因的人群（OR：0．45，95％CI：0．25-0．81）；两组CTR中携带C等位基因的人群患尿路含钙结石的差异有统计学意义（P ＝0．007，χ^2＝7．22）。结论降钙素受体CTR基因多态性与新疆维吾尔族小儿上尿路含钙结石的形成相关。

Objective To investigate the correlation CTR polymorphism with upper urinary tract stone （UUTS）in Uyghur children in Xinjiang of China.Methods A case group of 89 Uyghur children from the south of Xinjiang who composed the highest prevalence proportion of urinary calcium stones and control group of 1 2 1 healthy children was detected by using polymerase chain reaction-restriction fragment length polymorphism to investigate CTR gene polymorphisms and susceptibility of urinary calcium stones in the south of Xinjiang Uyghur children.Analysis the correlation between the combined effects of CTR gene polymorphisms and the susceptibility of Uyghur children with urinary calcium stones in the south of Xinjiang. Results There were statistically significant differences between the groups for the alleles and genotypes of CTR gene polymorphism （P =0.007,χ^2=7.22 or P =0.003,χ2=8.746 ）.The distribution of CTR genotype in man was significant difference between patients and controls （P =0.001,χ^2=11.390）,but fe-male was not.Conclusion Calcitonin receptor CTR gene polymorphisms correlate with the formation of calcium stones in the upper urinary tract stones in Uyghur children in the South of Xinjiang.