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Volume 39 Number 1 Volume 39 Number 2 Volume 39S Number 1

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Research articles

ScienceAsia 39 (2013): 167-173 |doi: 10.2306/scienceasia1513-1874.2013.39.167

JPH2 is a novel susceptibility gene on chromosome 20q associated with diabetic retinopathy in a Taiwanese population

Yu-Chuen Huanga,b, Hsin-Yi Lina, Hui-Ju Linb,c, Shih-Yin Chena,b, Shih-Ping Liud,e, Wen-Ling Liaof,g, Jane-Ming Linb,c, Yung-Hsiang Cheng, Fuu-Jen Tsaia,b,h,i,*

ABSTRACT:     A number of genes on human chromosome 20 have been implicated in susceptibility to diabetic retinopathy (DR) in type 2 diabetes (T2D) patients. This study investigated the association between genetic variants on chromosome 20 and DR development in T2D patients in a Taiwanese population. Unrelated subjects with T2D, without DR (n=575) and with DR (n=174), were genotyped for single nucleotide polymorphisms (SNPs) using Illumina BeadChips and genotypes compared between these 2 groups. Seven SNPs on chromosome 20 demonstrated associations with DR, with p-values <1 × 10−6. After controlling for diabetic duration and haemoglobin A1C, rs761207 and rs6031415, in junctophilin 2 (JPH2), remained associated to DR and increased the risk for DR development 1.43-fold (95% confidence interval (CI)=1.04–1.98) and 1.42-fold (95% CI=1.02–1.97), respectively. These SNPs were also associated with non-proliferative DR. The results implicate that genetic variants of JPH2 are associated with the pathogenesis of DR, particularly in the earlier non-proliferative phase. Given that JPH2 is an essential regulator of calcium flux and that vascular endothelial growth factor, which has previously been implicated in DR, is a mediator of calcium entry, calcium release, and endothelial permeability, our finding indicates that JPH2 is a plausible new candidate gene for DR development.

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a Genetics Centre, Department of Medical Research, China Medical University Hospital, Taichung 404, Taiwan
b School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung 404, Taiwan
c Department of Ophthalmology, China Medical University Hospital, Taichung 404, Taiwan
d Centre for Neuropsychiatry, China Medical University Hospital, Taichung 404, Taiwan
e Graduate Institute of Basic Medical Science, College of Medicine, China Medical University, Taichung 404, Taiwan
f Personalized Medicine Centre, China Medical University Hospital, Taichung 404, Taiwan
g Graduate Institute of Integrated Medicine, College of Chinese Medicine, China Medical University, Taichung 404, Taiwan
h Department of Pediatrics, China Medical University Hospital, Taichung 404, Taiwan
i Department of Medical Genetics, China Medical University Hospital, Taichung 404, Taiwan

* Corresponding author, E-mail: d0704@mail.cmuh.org.tw

Received 3 Jul 2012, Accepted 13 Mar 2013