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Hypospadias and genes related to genital tubercle and early urethral development
  • Published Date:
    May 30 2013
  • Source:
    J Urol. 190(5):1884-1892.
Filetype[PDF-115.35 KB]

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

    We determined whether variants in genes associated with genital tubercle (the anlage for the penis) and early urethral development were associated with hypospadias in humans.

    Materials and Methods

    We examined 293 relatively common tagSNPs in BMP4, BMP7, FGF8, FGF10, FGFR2, HOXA13, HOXD13, HOXA4, HOXB6, SRY, WT1, WTAP, SHH, GLI1, GLI2, and GLI3. The analysis included 624 cases (81 mild, 319 moderate, 209 severe, 15 undetermined severity) and 844 population-based non-malformed male controls born in California from 1990-2003.


    There were 28 SNPs for which any of the comparisons (i.e., overall or for a specific severity) had a p-value <0.01. The homozygous variant genotypes for four SNPs in BMP7 were associated with at least 2-fold increased risk of hypospadias, regardless of severity. Five SNPs for FGF10 were associated with 3- to 4-fold increased risks, regardless of severity; for four of them, results were restricted to whites. For GLI1, GLI2 and GLI3, there were 12 associated SNPs but results were inconsistent by severity and race-ethnicity. For SHH, one SNP was associated with 2.4-fold increased risk of moderate hypospadias. For WT1, six SNPs were associated with approximately 2-fold increased risks, primarily for severe hypospadias.


    This study provides evidence that SNPs in several genes that contribute to genital tubercle and early urethral development are associated with hypospadias risk.

  • Document Type:
  • Collection(s):
  • Funding:
    R01 ES017060/ES/NIEHS NIH HHS/United States
    U01 DD000489/DD/NCBDD CDC HHS/United States
    6U01DD000489/DD/NCBDD CDC HHS/United States
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