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Diacylglycerol Kinase K Variants Impact Hypospadias in a California Study Population
  • Published Date:
    Nov 21 2012
  • Source:
    J Urol. 189(1):305-311.
Filetype[PDF-345.39 KB]

  • Pubmed ID:
  • Pubmed Central ID:
  • Description:

    A recent genome-wide association study reported the novel finding that variants in diacylglycerol kinase kappa (DGKK) were associated with hypospadias. Our objectives were to determine whether this finding could be replicated in a more racially-ethnically diverse study population of California births and to provide a more comprehensive investigation of variants.


    We examined the association of 27 DGKK SNPs with hypospadias, relative to population-based non-malformed controls born in selected California counties from 1990-2003. Analyses included a maximum of 928 controls and 665 cases (91 mild, 336 moderate, 221 severe, 17 undetermined). Results for mild and moderate cases were similar so they were grouped together.


    For mild and moderate cases, odds ratios (OR) for 15 of the 27 SNPs had p-values <0.05; two were <1, and the others ranged from 1.3 to 1.8. Among severe cases, ORs tended to be closer to one and none of the p-values were <0.05. Due to high LD across the SNPs, haplotype analyses were conducted, and two blocks were generated. These analyses identified a set of eight variants that was associated with a three- to four- fold increased risk, relative to the most common haplotype, regardless of severity of the phenotype (the OR was 4.1, p<10-4 for mild to moderate cases and 3.3, p=0.001 for severe cases).


    This study confirms that DGKK variants are associated with hypospadias. Further studies are needed to enable a more thorough investigation of DGKK variability and to delineate the mechanism by which DGKK contributes to urethral development.

  • Document Type:
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  • Funding:
    6U01DD000489/DD/NCBDD CDC HHS/United States
    R01 ES017060/ES/NIEHS NIH HHS/United States
    R01ES017060/ES/NIEHS NIH HHS/United States
    R01 DK058105/DK/NIDDK NIH HHS/United States
    U01 DD000489/DD/NCBDD CDC HHS/United States
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