Common UCP2 variants contribute to serum urate concentrations and the risk of hyperuricemia.
Elevated serum urate, which is regulated at multiple levels including genetic variants, is a risk factor for gout and other metabolic diseases. This study aimed to investigate the association between UCP2 variants and serum urate as well as hyperuricemia in a Chinese population. In total, 4332 individuals were genotyped for two common UCP2 variants, -866G/A and Ala55Val. These loci were not associated either serum urate level or with a risk of hyperuricemia in the total group of subjects. However, in females, -866G/A and Ala55Val were associated with a lower serum urate (P = 0.006 and 0.014, seperately) and played a protective role against hyperuricemia (OR = 0.80, P = 0.018; OR = 0.79, P = 0.016). These associations were not observed in the males. After further stratification, the two loci were associated with serum urate in overweight, but not underweight females. The haplotype A-T (-866G/A-Ala55Val) was a protective factor for hyperuricemia in the female subgroup (OR = 0.80, P = 0.017). This present study identified a novel gene, UCP2, that influences the serum urate concentration and the risk of hyperuricemia, and the degree of association varies with gender and BMI levels.
State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China.
Luyu
L
Yang
State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China.
Zheng
Z
Dong
State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China.
Jingru
J
Zhou
State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China.
Yanyun
Y
Ma
State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China.
Weilin
W
Pu
Division of Rheumatology and Immunology, Changhai Hospital, Shanghai, China.
Dongbao
D
Zhao
Division of Rheumatology, Taixing People's Hospital, Jiangsu Province, China.
Hongjun
H
He
Division of Rheumatology, Taizhou People's Hospital, Jiangsu Province, China.
Hengdong
H
Ji
State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China.|Fudan-Taizhou Institute of Health Sciences, Taizhou, Jiangsu Province, China.
Yajun
Y
Yang
State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China.|Fudan-Taizhou Institute of Health Sciences, Taizhou, Jiangsu Province, China.
Xiaofeng
X
Wang
Division of Rheumatology and Immunology, Changhai Hospital, Shanghai, China.
Xia
X
Xu
Division of Rheumatology and Immunology, Changhai Hospital, Shanghai, China.
Yafei
Y
Pang
Division of Rheumatology, Huashan Hospital, Fudan University, Shanghai, China.|Institute of Rheumatology, Immunology and Allergy, Fudan University, Shanghai, China.
Hejian
H
Zou
State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China.|Fudan-Taizhou Institute of Health Sciences, Taizhou, Jiangsu Province, China.
Li
L
Jin
Division of Rheumatology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Chengde
C
Yang
State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China.|Fudan-Taizhou Institute of Health Sciences, Taizhou, Jiangsu Province, China.|Institute of Rheumatology, Immunology and Allergy, Fudan University, Shanghai, China.
Jiucun
J
Wang
D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D033461:Hyperuricemia / Q000097:blood / Q000235:genetics*; D008297:Male; D050177:Overweight / Q000097:blood / Q000235:genetics*; D017354:Point Mutation; D012727:Sex Characteristics; D000071246:Uncoupling Protein 2 / Q000235:genetics*; D014527:Uric Acid / Q000097:blood*
C000604389:UCP2 protein, human; D000071246:Uncoupling Protein 2; D014527:Uric Acid