宁夏回族绝经后女性GC、CYP2R1基因多态性与血清维生素D水平的关系
发布时间：2018-08-18 17:34
【摘要】：研究目的本研究主要探讨了GC、CYP2R1基因的六个SNP位点与宁夏回族绝经后女性血清维生素D水平的关系。研究方法本研究以宁夏回族地区随机抽样的480名回族绝经后女性作为研究对象,分别采用Taqman荧光探针法和直接测序法分析了GC、CYP2R1基因的6个位点的多态性,采用酶联免疫法(Enzyme linked immunosorbend assay,ELISA)测定血清25-羟维生素D的水平,从而分析各位点基因型和单体型与血清25(OH)D水平的关系。结果1.宁夏回族绝经后女性GC基因、CYP2R1基因的基因型均符合Hardy-Weinberg遗传平衡,样本的群体代表性好。2.研究人群中维生素D水平正常者34人,占总研究对象的7.1%;维生素D不足者129人,占总研究对象的26.9%;维生素D缺乏者317人,占总研究对象的66%3.研究人群的GC基因多态性位点rs2298849、多态性位点rs222020与血清25(OH)D的水平相关。rs2298849位点的少见等位基因G与rs222020位点的少见等位基因C可能是血清25(OH)D的保护性等位基因。4.本研究显示,CYP2R1基因的多态性与血清25-羟维生素D水平无相关性。结论宁夏回族绝经后女性群体中,维生素D的缺乏普遍存在。GC基因多态性与血清25(OH)D水平显著相关,CYP2R1基因多态性与血清25(OH)D水平无相关性。
[Abstract]:Objective to investigate the relationship between six SNP loci of CYP2R1 gene and serum vitamin D level in postmenopausal women of Ningxia Hui nationality. Methods in this study, a random sample of 480 postmenopausal women from Hui nationality in Ningxia was used to analyze the polymorphisms of six loci of CYP2R1 gene by Taqman fluorescence probe method and direct sequencing method. The serum levels of 25-hydroxyvitamin D were determined by enzyme-linked immunosorbent assay (Elisa), and the relationship between genotype and haplotype and serum 25 (OH) D level was analyzed. Result 1. The genotypes of the GC gene CYP2R1 in the postmenopausal women of Ningxia Hui nationality all accord with the Hardy-Weinberg genetic balance, and the population representation of the sample is good. 2. There were 34 subjects with normal vitamin D level, 129 with vitamin D deficiency and 317 with vitamin D deficiency, accounting for 663 percent of the total study subjects. The polymorphism locus rs2298849 of GC gene was associated with the level of serum 25 (OH) D. The rare allele G of rs2298849 locus and the rare allele C of rs222020 locus might be the protective allele .4of serum 25 (OH) D. This study showed that there was no correlation between CYP2R1 gene polymorphism and serum 25-hydroxyvitamin D level. Conclusion there is a significant correlation between vitamin D deficiency and serum 25 (OH) D level in Ningxia Hui postmenopausal women. There is no correlation between CYP2R1 gene polymorphism and serum 25 (OH) D level.
【学位授予单位】：宁夏医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R591.44
本文编号：2190183
[Abstract]:Objective to investigate the relationship between six SNP loci of CYP2R1 gene and serum vitamin D level in postmenopausal women of Ningxia Hui nationality. Methods in this study, a random sample of 480 postmenopausal women from Hui nationality in Ningxia was used to analyze the polymorphisms of six loci of CYP2R1 gene by Taqman fluorescence probe method and direct sequencing method. The serum levels of 25-hydroxyvitamin D were determined by enzyme-linked immunosorbent assay (Elisa), and the relationship between genotype and haplotype and serum 25 (OH) D level was analyzed. Result 1. The genotypes of the GC gene CYP2R1 in the postmenopausal women of Ningxia Hui nationality all accord with the Hardy-Weinberg genetic balance, and the population representation of the sample is good. 2. There were 34 subjects with normal vitamin D level, 129 with vitamin D deficiency and 317 with vitamin D deficiency, accounting for 663 percent of the total study subjects. The polymorphism locus rs2298849 of GC gene was associated with the level of serum 25 (OH) D. The rare allele G of rs2298849 locus and the rare allele C of rs222020 locus might be the protective allele .4of serum 25 (OH) D. This study showed that there was no correlation between CYP2R1 gene polymorphism and serum 25-hydroxyvitamin D level. Conclusion there is a significant correlation between vitamin D deficiency and serum 25 (OH) D level in Ningxia Hui postmenopausal women. There is no correlation between CYP2R1 gene polymorphism and serum 25 (OH) D level.
【学位授予单位】：宁夏医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R591.44
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