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

Abstract
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.
AuthorsHua Xie, Xiao-Ling Lin, Song Zhang, Ling Yu, Xiao-Xi Li, Yi-Chen Huang, Yi-Qing Lyu, Hai-Tao Chen, Jianfeng Xu, Fang Chen
JournalAsian journal of andrology (Asian J Androl) 2018 Jan-Feb Vol. 20 Issue 1 Pg. 85-89 ISSN: 1745-7262 [Electronic] China
PMID28597849 (Publication Type: Journal Article)
Chemical References
  • DGKK protein, human
  • Diacylglycerol Kinase
Topics
  • Asian People
  • Case-Control Studies
  • Child
  • China (epidemiology)
  • Diacylglycerol Kinase (genetics)
  • Genetic Predisposition to Disease (genetics)
  • Genetic Variation (genetics)
  • Genome-Wide Association Study
  • Haplotypes
  • Humans
  • Hypospadias (epidemiology, genetics)
  • Linkage Disequilibrium
  • Male
  • Polymorphism, Single Nucleotide (genetics)
  • Risk Assessment

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