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

Asian Journal of Andrology 2018年第1期20卷 85-89页

作者： Hua Xie Xiao-Ling Lin Song Zhang Ling Yu Xiao-Xi Li Yi-Chen Huang Yi-Qing Lyu Hai-Tao Chen Jianfeng Xu Fang Chen Department of Urology Shanghai Children's Hospital Shanghai Jiao Tong University Shanghai 200062 China Fudan Institute of Urology Huashan Hospital Fudan University Shanghai 200040 China State Key Laboratory of Genetic Engineering School of Life Sciences Fudan University Shanghai 200433 China Center for Genomic Translational Medicine and Prevention School of Public Health Fudan University Shanghai 200433 China Program for Personalized Cancer Care NorthShore University HealthSystem Evanston IL 60201 USA

Previous genome-wide association studies have identified variants in the diacylglycerol kinase kappa （DGKtO gene associated with hypospadias in populations of European descent. However, no variants of DGKKwere 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 DGKKwith 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 DGKKwere 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 hyposDadias are likely due to other genetic factors.

关键词： association study diacylglycerol kinase kappa hypospadias polymorphisms

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