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The association of five polymorphisms with diabetic retinopathy in a Chinese population.
Li, Huan; Ning, Meizhen; Li, Qinyun; Wang, Ting; Li, Wei; Xiao, Jialing; Wang, Liang; Wang, Kaifang; Zou, Rong; Hao, Fang; Yu, Man; Shi, Yi; Lei, Chuntao; Wang, Ziyang; Yang, Zhenglin; Xu, Huijuan; Gong, Bo.
Afiliação
  • Li H; Department of Health Management, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
  • Ning M; The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
  • Li Q; Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital Chengdu, Chengdu, Sichuan, China.
  • Wang T; Department of Ophthalmology, Qingdao Municipal Hospital, Qingdao, Shandong, China.
  • Li W; Department of Health Management, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
  • Xiao J; Department of Health Management, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
  • Wang L; The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
  • Wang K; Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital Chengdu, Chengdu, Sichuan, China.
  • Zou R; The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
  • Hao F; Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital Chengdu, Chengdu, Sichuan, China.
  • Yu M; The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
  • Shi Y; The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
  • Lei C; The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
  • Wang Z; The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
  • Yang Z; The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
  • Xu H; Department of Ophthalmology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China.
  • Gong B; The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Ophthalmic Genet ; 44(4): 346-351, 2023 08.
Article em En | MEDLINE | ID: mdl-37066695
ABSTRACT

PURPOSE:

To comprehend the etiology of diabetic retinopathy (DR), it is crucial to clarify the genetic susceptibility factors for DR. Previous studies have reported that five single nucleotide polymorphisms (SNPs), including rs9362054 (near the CEP162 gene), rs1990145 (MRPL19), rs10519765 (FMN1), rs237025 (SUMO4) and rs767649 (MIR155HG) were associated with DR. This study was conducted to elucidate the association between the five SNPs and DR in a Chinese Han population.

METHODS:

A total of 957 individuals with type 2 diabetes mellitus (T2DM) including diabetes mellitus without retinopathy (DNR = 478), nonproliferative DR (NPDR = 384) and proliferative (PDR = 95) were recruited in this study. SNPs were genotyped using the Mass ARRAY MALDI-TOF system. The genotype and allele frequencies were determined using χ2 tests. For genotype and allele risk, odds ratios (OR) and 95% confidence intervals (CI) were calculated. Four genetic models (homozygous, heterozygous, dominant, and recessive) were used to further investigate the link between the five SNPs and DR.

RESULTS:

There was a statistically significant difference of CEP162 rs9362054 between NPDR and DNR (P = .027, OR = 1.26, 95%CI = 1.03-1.54) and a significant association of SUMO4 rs237025 detected between PDR and DNR (P = .031, OR = 1.45, 95%CI = 1.03-2.02). The association of CEP162 rs9362054 was also observed under the dominant mode (P = .03, OR = 1.35, 95%CI = 1.03-1.77). The association of SUMO4 rs237025 was found under the heterozygous model (P = .03, OR = 1.68, 95%CI = 1.06-2.69) and the dominant model (P = .02, OR = 1.70, 95%CI = 1.08-2.67). No associations of the other three SNPs with NPDR and PDR were detected when compared with DNR under these genetic models.

CONCLUSIONS:

This study showed that rs9362054 and rs237025 were associated with NPDR and PDR when compared with DNR, suggesting that SUMO4 may be involved in the development of PDR, while CEP162 may be associated with NPDR.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diabetes Mellitus Tipo 2 / Retinopatia Diabética Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diabetes Mellitus Tipo 2 / Retinopatia Diabética Idioma: En Ano de publicação: 2023 Tipo de documento: Article