title: Polymorphisms in vitamin D-related genes and risk of uterine leiomyomata.
abstract: OBJECTIVE
  To investigate uterine leiomyomata (UL) incidence in relation to polymorphisms in genes involved in vitamin D metabolism and skin pigmentation. Rates of UL are 2-3 times higher in African Americans than in European Americans. Recent studies suggest that vitamin D deficiency is associated with an increased risk of UL.
  
  
  METHODS
  Nested case-control study.
  
  
  METHODS
  Not applicable.
  
  
  METHODS
  Two thousand two hundred thirty-two premenopausal women first diagnosed with UL confirmed by ultrasound or surgery during 1997-2011 (cases) and 2,432 premenopausal women never diagnosed with UL through 2011 (controls).
  
  
  METHODS
  None.
  
  
  METHODS
  Self-reported UL. We used logistic regression to estimate odds ratios (OR) and 95% confidence intervals (CI) for the association between each polymorphism and UL, controlling for age, geographic region, and ancestry.
  
  
  RESULTS
  Three of 12 polymorphisms were associated with UL at the nominal significance level: rs4944957 and rs12800438 near DHCR7 and rs6058017 in ASIP. After correction for multiple hypothesis testing, two single nucleotide polymorphisms remained significantly associated with UL (rs12800438 and rs6058017). Compared with the AA genotype for rs12800438 (correlated with higher serum 25[OH]D levels), ORs were 1.09 (95% CI, 0.92, 1.29) and 1.23 (95% CI, 1.03, 1.47) for the GA and GG genotypes, respectively. Compared with the AA genotype for rs6058017 (correlated with lighter skin pigmentation), ORs were 1.01 (95% CI, 0.83, 1.22) and 1.18 (95% CI, 0.97, 1.44) for the GA and GG genotypes, respectively.
  
  
  CONCLUSIONS
  Our data support the hypothesis that vitamin D deficiency is involved in UL etiology.
authors.affiliation: Slone Epidemiology Center at Boston University, Boston, Massachusetts. Electronic address: lwise@bu.edu.
authors.forename: Lauren A
authors.initials: LA
authors.lastname: Wise
authors.affiliation: Slone Epidemiology Center at Boston University, Boston, Massachusetts.
authors.forename: Edward A
authors.initials: EA
authors.lastname: Ruiz-Narváez
authors.affiliation: Slone Epidemiology Center at Boston University, Boston, Massachusetts.
authors.forename: Stephen A
authors.initials: SA
authors.lastname: Haddad
authors.affiliation: Slone Epidemiology Center at Boston University, Boston, Massachusetts.
authors.forename: Lynn
authors.initials: L
authors.lastname: Rosenberg
authors.affiliation: Slone Epidemiology Center at Boston University, Boston, Massachusetts.
authors.forename: Julie R
authors.initials: JR
authors.lastname: Palmer
mesh_terms: D000328:Adult; D001741:Black or African American / Q000235:genetics; D054366:Agouti Signaling Protein / Q000235:genetics; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D015994:Incidence; D007889:Leiomyoma / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D016015:Logistic Models; D008875:Middle Aged; D016017:Odds Ratio; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012042:Registries; D018570:Risk Assessment; D012307:Risk Factors; D012880:Skin Pigmentation / Q000235:genetics; D014481:United States / Q000453:epidemiology; D014594:Uterine Neoplasms / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D014807:Vitamin D / Q000378:metabolism*
chemical_list: C515182:ASIP protein, human; D054366:Agouti Signaling Protein; D014807:Vitamin D; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase
keywords: African Americans; Prospective studies; genetics; uterine neoplasms; vitamin D