| 艾日班·莫合太,杜 恒,邵 齐,张云宇,马沛莉,木拉提·马合木提.新疆地区维吾尔族和汉族人群CaSR基因多态性与草酸钙肾结石关系的研究[J].,2018,(9):1735-1740 |
| 新疆地区维吾尔族和汉族人群CaSR基因多态性与草酸钙肾结石关系的研究 |
| Effect of CaSR Gene Polymorphism on the Formation of Idiopathic Calcium Oxalate Stones by Serum Calcium and 24 Hour Urinary Calcium of Uigur and Han Population in Xinjiang Region |
| 投稿时间：2017-10-25 修订日期：2017-11-18 |
| DOI：10.13241/j.cnki.pmb.2018.09.029 |
| 中文关键词: 钙敏感受体基因(CaSR) 草酸钙结石 维吾尔族 汉族 |
| 英文关键词: CaSR Idiopathic calcium oxalate stones(ICS) Uygur Han |
| 基金项目:新疆自治区自然科学基金项目(2015211C105) |
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| 中文摘要: |
| 摘要 目的：探讨新疆地区维吾尔族和汉族草酸钙结石与钙敏感受体 (calcium sensitive receptor，CaSR)基因多态性之间的关系。方法：选择398例临床确诊泌尿系草酸钙结石患者(200例维吾尔族，198例汉族)和399例正常对照者(200例维吾尔族，199例汉族)，应用SnaPshot方法对CaSR基因两位点(rs1042636，rs1801726)的基因型及等位基因频率进行检测，并分析其与草酸钙结石发病的相关性以及对血钙、24 h尿钙水平的影响。结果：各组2个位点的基因型分布均符合Hardy-Weinberg平衡。汉族结石组与汉族对照组及维吾尔族结石族与维吾尔族对照组rs1042636、rs1801726位点基因型分布及基因频率差异均无统计学意义(P＞0.05)。维吾尔和汉族rs1042636基因型及等位基因频率比较差异有统计学意义(P＜0.05)，且维吾尔族人群携带rs1042636等位基因A的风险高于汉族人群(病例组中OR值=2.145，%95CI=[1.602~2.866]，P<0.01；对照组中OR值=1.773，% 95CI=[1.332~2.359]，P<0.01)，其中维／汉病例组中等位基因频率分别为A=278(69.5%)／204(51.5%)，G=122(30.5%)／192(48.5%)；维／汉对照组中等位基因频率分别为A=264(66.0%)／208(52.3%)，G=136(34.0%)／190(47.7%)。而病例组和对照组rs1801726基因型频率差异无统计学意义(P＞0.05)；汉族病例组、对照组发现GG+AG基因型较AA基因型有较高的尿钙水平(病例组：P=0.007和对照组：P=0.006)，维吾尔族人群该位点与两项指标无相关性。结论：CaSR基因2个基因位点rs1042636、rs1801726可能不是新疆地区维吾尔族和汉族草酸钙结石发病的危险因子，两族rs1042636基因多态性分布存在差异，rs1042636位点基因多态性能影响汉族人群尿钙排泄，可能汉族调节钙排泄的遗传因素之一。 |
| 英文摘要: |
| ABSTRACT Objective: To investigate the correlation of calcium sensitive receptor (CaSR ) gene polymorphism with the incidence of idiopathic calcium oxalate stones in Uygur and Han population in Xinjiang. Methods: 398 cases of ICS patients (200 case of Uygur and 198 case of Han)and 399 cases of controls (200 controls of Uygur and 199 controls of Han) were selected in this study. The CaSR gene rs1042636, rs1801726 polymorphism was analyzed by the methods of SnaPshot and the genotype distribution was compared be- tween different groups. The serum calcium and 24 h urinary calcium excretion levels were compared among different genotypes in both case and control groups. Results: Single Nueleotide Polymorphism(SNP) rs1042636, SNPrs1801726 of CaSR gene were detected, in case group and control group of each nationalities, the genotype frequencies of the two locis are in compliance with Hardy-Weinberg equilibri- um .There was no significant difference found in genotype frequencies and allele of rs1042636 and rs1801726 locis between case and controls in both Hans and Uygurs(P>0.05). For CaSR gene rs1042636 polymorphism respectively in the cases and controls, the statistical result of its genotype was (cases: P=0.001; controls: P=0.024), the A allele in uygur both in cases and controls was higher comparing with those Hans, the Statistical results of its allele was in cases OR=2.145 % 95CI=[1.602~2.866] P<0.01, in controls OR=1.773 % 95CI=[1.332~2.359] P<0.01), allele frequencies of Uygur/Han in case group were A=278(69.5%)/204(51.5%), G=122(30.5%)/192(48.5%); Uygur/Han in control group were A=264(66.0%)/208(52.3%), G=136(34.0%)/190(47.7%). However, for CaSR gene rs1801726 the genotype frequencies and allele was no significant difference between two ethnic groups. Furthermore, we also found that in Hans popu- lation the individuals who carried genotype AG+GG had the higher urinary calcium than who carriers AA genotype, in Han case: P=0.007 and in Han controls: P=0.006), in Uygur population the serum calcium and 24hour urinary calcium had no significant dif- ference among different genotype of CaSR gene two SNP. Conclusion: The rs1042636, rs1801726 polymorphisms of CaSR Gene had no associ- ated with the risk of idiopathic calcium oxalate stones in Xinjisng region. In Han population, CaSR gene rs1042636 polymorphism had effect on the urinary calcium excretion, it may be one of the genetic factors for regulating the calcium excretion. |
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