Investigation of variants in UCP2 in Chinese type 2 diabetes and diabetic retinopathy.
OBJECTIVE
The aim of this study was to investigate variants in UCP2 genes in type 2 diabetes mellitus (DM) and diabetic retinopathy (DR) in Chinese population.


METHODS
We conducted a single nucleotide polymorphism-based and haplotype-based case-control study between the variants of UCP2 and DM and between the variants of UCP2 and DR in 479 Chinese patients with type 2 DM and 479 control subjects without DM. Two SNPs (rs660339 and rs659366) were selected as genetic markers.


RESULTS
The risk allele C at UCP2 rs660339 was closely associated with DM in Chinese population. There was significant difference in rs660339 between DM and controls (P = 0.0016; OR [95%CI]  = 1.37 (1.14-1.65)). Subjects who were homozygous of the C allele were more likely to develop DM. The frequency of C allele was higher in DM (58%) than in control (51%). But this locus didn't have a definite effect on the onset of non-proliferative diabetic retinopathy (NPDR) (P = 0.44; OR [95%CI]  = 0.80 (0.56-1.14)) and proliferative diabetic retinopathy (PDR) (P = 1.00; OR [95%CI]  = 0.99 (0.74-1.34)) comparing to subjects with DM without retinopathy (DWR), respectively. Moreover, the UCP2 rs659366 polymorphism showed no significant difference between DM and control (P = 0.66; OR [95%CI]  = 1.10 (0.91-1.32)). However, there was a significant difference between PDR and DWR (P = 0.016; OR [95%CI]  = 0.66 (0.49-0.90)), but there was no difference between NPDR and DWR (P = 1.00; OR [95%CI]  = 0.96 (0.67-1.37)). Participants who carried the G allele at rs659366 were more likely to develop PDR. For the haplotype, C-A was present more frequently in DM than in control (16% vs 7%), indicating that it was risky, and T-A was present less in DM than in control (29% vs 35%). Haplotype frequencies in DR and DWR showed no significant difference (P = 0.068).


CONCLUSIONS
It was indicated that UCP2 may be implicated in the pathogenesis of type 2 DM and DR in Chinese population.
Department of Ophthalmology, Shanghai First People's Hospital, Shanghai Jiao Tong University, Shanghai, People's Republic of China, Shanghai Key Laboratory of Fundus Disease, Shanghai, People's Republic of China.
Yinchen
Y
Shen
Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, People's Republic of China.
Zujia
Z
Wen
Department of Ophthalmology, Shanghai First People's Hospital, Shanghai Jiao Tong University, Shanghai, People's Republic of China, Shanghai Key Laboratory of Fundus Disease, Shanghai, People's Republic of China.
Ning
N
Wang
Department of Ophthalmology, Shanghai First People's Hospital, Shanghai Jiao Tong University, Shanghai, People's Republic of China, Shanghai Key Laboratory of Fundus Disease, Shanghai, People's Republic of China.
Zhi
Z
Zheng
Department of Ophthalmology, Shanghai First People's Hospital, Shanghai Jiao Tong University, Shanghai, People's Republic of China, Shanghai Key Laboratory of Fundus Disease, Shanghai, People's Republic of China.
Kun
K
Liu
Department of Ophthalmology, Shanghai First People's Hospital, Shanghai Jiao Tong University, Shanghai, People's Republic of China, Shanghai Key Laboratory of Fundus Disease, Shanghai, People's Republic of China.
Xin
X
Xia
Department of Ophthalmology, Shanghai First People's Hospital, Shanghai Jiao Tong University, Shanghai, People's Republic of China, Shanghai Key Laboratory of Fundus Disease, Shanghai, People's Republic of China.
Qing
Q
Gu
Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, People's Republic of China.
Yongyong
Y
Shi
Department of Ophthalmology, Shanghai First People's Hospital, Shanghai Jiao Tong University, Shanghai, People's Republic of China, Shanghai Key Laboratory of Fundus Disease, Shanghai, People's Republic of China.
Xun
X
Xu
D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D003924:Diabetes Mellitus, Type 2 / Q000150:complications / Q000235:genetics*; D003930:Diabetic Retinopathy / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007473:Ion Channels / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D000071246:Uncoupling Protein 2
D007473:Ion Channels; D024101:Mitochondrial Proteins; C000604389:UCP2 protein, human; D000071246:Uncoupling Protein 2