| 王琼 王灿 王希波 苗志敏 崔莹 李长贵.ABCG2 基因rs2231142 位点多态性与汉族女性痛风的相关性[J].,2014,14(13):2437-2440 |
| ABCG2 基因rs2231142 位点多态性与汉族女性痛风的相关性 |
| Association between gout and polymorphisms of rs2231142in ABCG2 in female Han Chinese |
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| DOI： |
| 中文关键词: ABCG2 痛风 单核苷酸多态性 中国汉族女性 |
| 英文关键词: ABCG2 Gout Single nucleotide polymorphism female Han Chinese |
| 基金项目:国家自然科学基金项目（31371272） |
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| 中文摘要: |
| 目的：ABCG2 基因第5 外显子区单核苷酸多态性位点rs2231142 与中国汉族男性痛风密切相关，基于痛风易感基因存在
性别差异的考虑，本研究旨在探讨该单核苷酸多态性位点与中国汉族女性人群痛风易感性之间的相关性。方法：选取185例女性
痛风患者和311例女性正常对照者，提取外周血基因组DNA，采用聚合酶链式反应(PCR 技术)，特异性扩增ABCG2 基因所需要
的目的片段并测序,比较痛风组和正常对照组的基因型频率及等位基因频率分布情况。结果：rs2231142 位点的CC、CA、AA 基因
型频率在两组间存在显著差异(x2=16.519，P<0.001)，且痛风组中A等位基因频率显著高于正常对照组（分别为42.2 %和29.3 %，
P<0.001, OR 1.76 [95%CI: 1.35-2.31]）。结论：ABCG2 基因第五外显子区rs2231142(C/A)位点的单核苷酸多态性与中国汉族女性
人群痛风易感性密切相关，携带A 等位基因的汉族女性人群有更高的痛风患病率。ABCG2 基因首次被证实为中国汉族女性人群
的痛风致病易感基因。 |
| 英文摘要: |
| Objective:The SNP rs2231142 which located in the exon5 of ABCG2 gene was found to be significantly associated
with the development of gout in male Han Chinese. Because some genetic polymorphisms show gender differences in gout, we do this
study to clarify the relevance between SNP rs2231142 and gout in female Han Chinese.Methods:A total of 185 female gout patients and
311 female controls were recruited, genomic DNA were extracted from peripheral blood leukocytes, after amplified the target gene seg
ments of ABCG2, the PCR products were sequenced directly for genotype analysis. The genotype and allelic frequencies of the two
groups were compared.Results: The frequencies of CC, CA and AA genotypes had a statistically difference between gout patients and
controls (x2=16.519，P<0.001). The risk allele A of rs2231142 in gout patients is much higher than controls.(42.2%vs. 29.3 %, P<0.001,
OR: 1.76 [95% CI: 1.35-2.31]).Conclusion:The polymorphisms of rs2231142（C/A）in the exon5 of ABCG2 are significantly associated
with the susceptibility to gout in female Han Chinese. Women who carry A allele of rs2231142 are more likely to get gout, and
ABCG2 was first identified as a candidate gene associated with female gout in Chinese Han population. |
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