• PMID: 28597849
• Gene Name: DGKK
• Condition: Hypospadias
• Association: Associated
• Mutation: rs2211122, rs4554617, rs7058226, rs7063116, and rs5915254
• Population size: 1330
• Population details: 1330(322 cases (58 mild, 113 moderate, 128 severe, and 23 unknown) and 1008 controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: NGS

Association between diacylglycerol kinase kappa variants and hypospadias susceptibility in a Han Chinese population

Xie H, Lin XL, Zhang S, Yu L, Li XX, Huang YC, Lyu YQ, Chen HT, Xu J, Chen F.

Previous genome-wide association studies have identified variants in the diacylglycerol kinase kappa (DGKK) gene associated with hypospadias in populations of European descent. However, no variants of DGKK were confirmed to be associated with hypospadias in a recent Han Chinese study population, likely due to the limited number of single-nucleotide polymorphisms (SNPs) included in the analysis. In this study, we aimed to address the inconsistent results and evaluate the association between DGKK and hypospadias in the Han Chinese population through a more comprehensive analysis of DGKK variants. We conducted association analyses for 17 SNPs in or downstream of DGKK with hypospadias among 322 cases (58 mild, 113 moderate, 128 severe, and 23 unknown) and 1008 controls. Five SNPs (rs2211122, rs4554617, rs7058226, rs7063116, and rs5915254) in DGKK were significantly associated with hypospadias (P < 0.05), with odds ratios (ORs) of 1.64-1.76. When only mild and moderate cases were compared to controls, 10 SNPs in DGKK were significant (P < 0.05), with ORs of 1.56-2.13. No significant SNP was observed when only severe cases were compared to controls. This study successfully implicated DGKK variants in hypospadias risk among a Han Chinese population, especially for mild/moderate cases. Severe forms of hypospadias are likely due to other genetic factors. FAU - Xie, Hua AU - Xie H AD - Department of Urology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200062, China. FAU - Lin, Xiao-Ling AU - Lin XL AD - Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai 200040, China. FAU - Zhang, Song AU - Zhang S AD - State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai 200433, China. FAU - Yu, Ling AU - Yu L AD - Department of Urology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200062, China. FAU - Li, Xiao-Xi AU - Li XX AD - Department of Urology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200062, China. FAU - Huang, Yi-Chen AU - Huang YC AD - Department of Urology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200062, China. FAU - Lyu, Yi-Qing AU - Lyu YQ AD - Department of Urology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200062, China. FAU - Chen, Hai-Tao AU - Chen HT AD - Center for Genomic Translational Medicine and Prevention, School of Public Health, Fudan University, Shanghai 200433, China. FAU - Xu, Jianfeng AU - Xu J AD - Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai 200040, China. AD - Center for Genomic Translational Medicine and Prevention, School of Public Health, Fudan University, Shanghai 200433, China. AD - Program for Personalized Cancer Care, NorthShore University HealthSystem, Evanston, IL 60201, USA.