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[中国一家三级医院教职工队列中三磷酸腺苷结合盒转运体G成员2单核苷酸多态性与高尿酸血症的相关性]

[The associations between adenosine triphosphate binding cassette subfamily G member-2 single nucleotide polymorphism and hyperuricemia in a Chinese tertiary hospital faculty cohort].

作者信息

Zhang B Q, Fang W G, Zhang Y, Liu S F, Zeng X J

机构信息

Division of General Medicine, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.

出版信息

Zhonghua Nei Ke Za Zhi. 2017 Nov 1;56(11):833-838. doi: 10.3760/cma.j.issn.0578-1426.2017.11.011.

Abstract

To investigate gender specific association between single nucleotide polymorphism rs2231142 and hyperuricemia. A matched case-control study was conducted in a faculty cohort of a tertiary hospital in Beijing. The enrollment criteria were faculty member of the hospital with signed consent. The exclusion criteria were tumor, previous renal diseases, renal function damage, pregnancy, currently taking medicines that could increase or decrease serum uric acid level, and those who had gout. Males with serum uric acid>416.4 μmol/L and females with serum uric acid> 359.6 μmol/L were enrolled as hyperuricemia group. Subjects with normal serum uric acid were randomly enrolled at 1∶2 ratio after matching for gender, age, renal function and body mass index. Rs2231142(C>A) was assayed by amplification refractory mutation system polymerase chain reaction, with common forward primer: 5' GGCTTTGCAGACATCTATGG 3', C specific reverse primer: 5'CGAAGAGCTGCTGAGAAATG 3', and A specific reverse primer: 5' CGAAGAGCTGCTGAGAAATT 3'.Association between rs2231142 and hyperuricemia was analyzed in the general study group, as well as different gender and age groups. A total of 198 subjects with hyperuricemia and 370 controls were enrolled. The A allele frequency of rs2231142 was significantly higher in the hyperuricemia group than control group (38.38% vs 26.62%, <0.001), with an for hyperuricemia of 2.89 (95% 1.91-4.37, <0.001). After adjustment for hypertension, hyperglycemia and dyslipidemia, the was 2.99 (95% 1.94 - 4.62, <0.001). Subgroup analysis showed that the were 3.83 (95% 2.03-7.24, <0.001) in male and 2.30 (95% 1.32-4.00, =0.003) in female. In those 55 years or older, the gender differences of were decreased, with of 3.23 (95% 1.02-10.29, =0.047) in male and 3.06 (95% 1.37-6.84, =0.006) in female. While in those less than 55 years, the gender differences of were enlarged, with of 4.11 (95% 1.92-8.79, <0.001) in males and 1.73 (95% 0.80-3.76, =0.165) in females. Interaction study between gender and rs2231142 did not reach significant level in both the gender group and two age groups. Single nucleotide polymorphism rs2231142 A allele is an independent risk factor for hyperuricemia in this tertiary hospital faculty cohort. The are higher in male than those in female, especially in those less than 55 years old.

摘要

为研究单核苷酸多态性rs2231142与高尿酸血症之间的性别特异性关联。在北京一家三级医院的教职工队列中进行了一项匹配病例对照研究。纳入标准为签署知情同意书的医院教职工。排除标准为肿瘤、既往肾脏疾病、肾功能损害、妊娠、目前正在服用可升高或降低血清尿酸水平的药物以及患有痛风者。血清尿酸>416.4 μmol/L的男性和血清尿酸>359.6 μmol/L的女性被纳入高尿酸血症组。血清尿酸正常的受试者在按性别、年龄、肾功能和体重指数匹配后,以1∶2的比例随机纳入。采用扩增阻滞突变系统聚合酶链反应检测rs2231142(C>A),通用正向引物:5' GGCTTTGCAGACATCTATGG 3',C特异性反向引物:5'CGAAGAGCTGCTGAGAAATG 3',A特异性反向引物:5' CGAAGAGCTGCTGAGAAATT 3'。在总体研究组以及不同性别和年龄组中分析rs2231142与高尿酸血症之间的关联。共纳入198例高尿酸血症患者和370例对照。rs2231142的A等位基因频率在高尿酸血症组显著高于对照组(38.38%对26.62%,<0.001),高尿酸血症的比值比为2.89(95%可信区间1.91 - 4.37,<0.001)。在调整高血压、高血糖和血脂异常后,比值比为2.99(95%可信区间1.94 - 4.62,<0.001)。亚组分析显示,男性的比值比为3.83(95%可信区间2.03 - 7.24,<0.001),女性为2.30(95%可信区间1.32 - 4.00,=0.003)。在55岁及以上人群中,比值比的性别差异减小,男性为3.23(95%可信区间1.02 - 10.29,=0.047),女性为3.06(95%可信区间1.37 - 6.84,=0.006)。而在55岁以下人群中,比值比的性别差异增大,男性为4.11(95%可信区间1.92 - 8.79,<0.001),女性为为1.73(95%可信区间0.80 - 3.76,=0.165)。性别与rs2231142之间的交互作用研究在性别组和两个年龄组中均未达到显著水平。单核苷酸多态性rs2231142的A等位基因是该三级医院教职工队列中高尿酸血症的独立危险因素。男性的比值比高于女性,尤其是在55岁以下人群中。

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