Hypospadias and variants in genes related to sex hormone biosynthesis and metabolism

Details

• Alternative Title:
  Andrology
• Personal Author:
  Carmichael, SL ; Witte, JS ; Ma, C ; Lammer, EJ ; Shaw, GM
• Description:
  We examined whether variants in genes related to sex hormone biosynthesis and metabolism were associated with hypospadias in humans. We examined 332 relatively common tag single-nucleotide polymorphisms (tagSNPs) in 20 genes. Analyses included 633 cases (84 mild, 322 moderate, 212 severe and 15 undetermined severity) and 855 population-based non-malformed male controls born in California from 1990 to 2003. We used logistic regression models to estimate odds ratios (OR) and 95% confidence intervals (CI) for each SNP. Several of the 332 studied SNPs had p < 0.01: one in CYP3A4, four in HSD17B3, one in HSD3B1, two in STARD3, 10 in SRD5A2 and seven in STS. In addition, haplotype analyses gave several associations with p < 0.01. For HSD17B3, 14-SNP and 5-SNP blocks had ORs of 1.5 (95% CI 1.1, 2.0, p < 0.001) and 2.8 (95% CI 1.6, 4.8, p < 0.001) respectively. For SRD5A2, 9-SNP, 3-SNP and 8-SNP blocks had ORs of 1.7 (95% CI 1.3, 2.2, p < 0.001), 1.4 (95% CI 1.1, 1.8, p = 0.008) and 1.5 (95% CI 1.2, 1.9, p = 0.002) respectively. Our study indicates that several genes that contribute to sex hormone biosynthesis and metabolism are associated with hypospadias risk.
• Subjects:
  • Article
  • 17-Hydroxysteroid Dehydrogenases
  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
  • Carrier Proteins
  • Cytochrome P-450 CYP3A
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genotype
  • Gonadal Steroid Hormones
  • Humans
  More +
• Source:
  Andrology. 2(1):130-137.
• Pubmed ID:
  24281767
• Pubmed Central ID:
  PMC3904546
• Document Type:
  Journal Article
• Funding:
  6U01DD000489/DD/NCBDD CDC HHS/United States ; R01 ES017060/ES/NIEHS NIH HHS/United States
• Volume:
  2
• Issue:
  1
• Download URL:
  https://stacks.cdc.gov/view/cdc/29837/cdc_29837_DS1.pdf
• File Type:
  [PDF - 704.94 KB]
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha256:7031eca4d92478389ff266fc38e1c675dad2dbe610727fbaa000d695a5416745