Identified single-nucleotide polymorphisms and haplotypes at 16q22.1 increase diabetic nephropathy risk in Han Chinese population

BMC Genetics

Fuu-Jen Tsai⁵  Tsai-Chung Li⁴  Sharon LR Kardia¹  Chwen-Tzuei Chang⁷  Jen-Hao Hsiao²  Cheng-Chieh Lin³  Fang-Yang Wu⁶  Ching-Chu Chen⁵  Li-Na Liao⁶ 

[1] Department of Epidemiology, University of Michigan, Ann Arbor, MI, USA;Bioinformatics and Biostatistics Core, Center of Genomic Medicine, National Taiwan University, Taipei, Taiwan;School of Medicine, College of Medicine, China Medical University, Taichung, Taiwan;Department of Healthcare Administration, College of Health Science, Asia University, Taichung, Taiwan;School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan;Department of Public Health, College of Public Health, China Medical University, Taichung, Taiwan;Division of Endocrinology and Metabolism, Department of Medicine, China Medical University Hospital, Taichung, Taiwan

关键词: Han Chinese;    Haplotype;    Single-nucleotide polymorphism;    Diabetic nephropathy;   

Others  :  1085403
DOI  :  10.1186/s12863-014-0113-8

 received in 2014-04-28, accepted in 2014-10-13,  发布年份 2014

【 摘 要 】

Background

Diabetic nephropathy (DN) has become one of the most common causes of end-stage renal disease (ESRD) in many countries, such as 44.5% in Taiwan. Previous studies have shown that there is a genetic component to ESRD. Studies attempting to determine which genetic variants are related to DN in Han Chinese are limited. A case–control study was conducted to identify DN susceptibility variants in Han Chinese patients with type 2 diabetes.

Results

We included 574 unrelated type 2 diabetes patients (217 DN cases and 357 controls), who were genotyped using Illumina HumanHap550-Duo BeadChip. In single-SNP association tests, the SNPs rs11647932, rs11645214, and rs6499323 located at 16q22.1 under the additive-effect disease model were significantly associated with an approximately 2-fold increased risk of DN. In haplotype association tests, identified haplotypes located in the chromosome 16q22.1 region (containing ST3GAL2, COG4, SF3B3, and IL34 genes) raised DN risk. The strongest association was found with haplotype rs2288491-rs4985534-rs11645214 (C-C-G) (adjusted odds ratio [AOR] 1.93, 95% confidence interval [CI] 1.83-2.03, p = 6.25 × 10⁻⁷), followed by haplotype rs8052125-rs2288491-rs4985534-rs11645214 (G-C-C-G) (AOR 1.92, 95% CI 1.82-2.02, p = 6.56 × 10⁻⁷), and haplotype rs2303792-rs8052125-rs2288491-rs4985534-rs11645214 (A-G-C-C-G) (AOR 1.91, 95% CI 1.81-2.01, p = 1.15 × 10⁻⁶).

Conclusions

Our results demonstrate that the novel SNPs and haplotypes located at the 16q22.1 region may involve in the biological pathways of DN in Han Chinese patients with type 2 diabetes. This study can provide new insights into the etiology of DN.

【 授权许可】

   
2014 Liao et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

Figure 7.

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