Analysis of genetic susceptibility to proliferative diabetic retinopathy in Han patients with type 2 diabetes from Southern China by whole exome sequencing and SnaPshot

Authors: Xie Jie,  Jiang Zhengxuan,  Zhang Liang,  Cui Ying,  Wang Jun,  Zhang Aiping,  Meng Qianli

DOI: 10.3760/cma.j.issn.2095-0160.2018.10.008
Published 2018-10-10
Cite as Chin J Exp Ophthalmol, 2018,36(10): 774-779.

Abstract

Objective

To research the genetic susceptibility of proliferative diabetic retinopathy (PDR) in Han patients with type 2 diabetes from Southern China.

Methods

A cross-sectional study was performed under the informed consent of the patients.Patients with type 2 diabetes in the Dongguan Eye Study from September 2011 to February 2012 and relative patients treated in Guangdong General Hospital from July 2017 to March 2018 were included in this study, including 100 patients with diabetes mellitus(DM) and 120 patients with PDR.Whole exome sequencing was used to identify DNA mutation in peripheral blood samples from 22 type 2 diabetic patients without retinopathy (DM group) and 23 diabetic patients with PDR (PDR group). Genotype and allele of the nine selected single-nucleotide polymorphisms (SNPs) were tested and analyzed by SnaPshot technology in another 78 DM patients without retinopathy and 97 PDR patients.

Results

A total of 75 SNPs were associated with PDR (P<0.01), involving 53 genes.Eleven gene loci were in the exon region and 7 were non-synonymous mutations.Nine exon loci of 8 genes with significant differences were screened out for the verification.SnaPshot SNP genotyping technique found that there were no significant differences in allele and genotype frequency in the nine selected SNPs between PDR group and DM group (all at P>0.05). However, 7 haplotypes distribution frequencies were significantly different between PDR group and DM group (all at P<0.01). Hap1 and Hap4 might reduce the risk of PDR (both at OR<1, P<0.05), and Hap2 might increase the risk of PDR (OR>1, P<0.05).

Conclusions

The occurrence of PDR probably has a genetic susceptibility in type 2 DM patients of Han nationality in Southern China.

Key words:

Proliferative diabetic retinopathy; Han nationality; Genetic susceptibility; Whole exome sequencing; SnaPshot

Contributor Information

Xie Jie
Department of Ophthalmology, Guangdong General Hospital, School of Medicine, South China University of Technology, Guangzhou 510080
Jiang Zhengxuan
Department of Ophthalmology, the Second Affilianted Hospital of Anhui Medical University, Hefei 230022, China
Zhang Liang
Guangdong General Hospital.Guangdong Eye Institute, Guangdong Academy of Medical Sciences, Guangzhou 510080, China
Cui Ying
Guangdong General Hospital.Guangdong Eye Institute, Guangdong Academy of Medical Sciences, Guangzhou 510080, China
Wang Jun
Guangdong General Hospital.Guangdong Eye Institute, Guangdong Academy of Medical Sciences, Guangzhou 510080, China
Zhang Aiping
Guangdong General Hospital.Guangdong Eye Institute, Guangdong Academy of Medical Sciences, Guangzhou 510080, China
Meng Qianli
Department of Ophthalmology, Guangdong General Hospital, School of Medicine, South China University of Technology, Guangzhou 510080
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