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


1 Department of Urology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200062, China
2 Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai 200040, China
3 State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai 200433, China
4 Center for Genomic Translational Medicine and Prevention, School of Public Health, Fudan University, Shanghai 200433, China
5 Program for Personalized Cancer Care, NorthShore University HealthSystem, Evanston, IL 60201, USA

Correspondence Address:
Fang Chen,
Department of Urology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200062, China

Jianfeng Xu,
Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai 200040, 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

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Source of Support: None, Conflict of Interest: None

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.


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