title: Polymorphisms in steroidogenesis genes, sex steroid levels, and high myopia in the Taiwanese population.
abstract: OBJECTIVE
  To evaluate the relationship among single nucleotide polymorphisms (SNPs) in steroidogenesis enzyme genes, serum levels of sex steroids, and high myopia in Taiwanese male and female populations.
  
  
  METHODS
  A campus-based sample of 283 cases (145 males and 138 females) with high myopia and 280 controls (144 males and 136 females) with low myopia or emmetropia was studied. Estradiol, progesterone, and testosterone levels were determined using enzyme-linked immunosorbent assay kits. We genotyped six SNPs within five steroidogenesis enzyme genes (17 alpha-hydroxylase/17,20 lyase [CYP17A1], 3 beta-hydroxysteroid dehydrogenase [HSD3B1], 17 beta-hydroxysteroid dehydrogenase 1 [HSD17B1], steroid-5-alpha-reductase, alpha polypeptide 2 [SRD5A2], and aromatase [CYP19A1]) using polymerase chain reaction-restriction fragment length polymorphism methods. Student's t-tests, χ(2) tests, logistic regression, multifactor dimensionality reduction (MDR) methods, and ANOVA were used to determine significance.
  
  
  RESULTS
  An MDR analysis corroborated the synergistic genotype association and demonstrated that synergistic interaction between rs6203 (HSD3B1), rs10046 (CYP19A1), and sex might confer susceptibility to high myopia (p=0.019). In both male and female subjects, levels of testosterone were significantly higher in cases than in controls; in male subjects, the levels of estradiol were significantly higher and those of progesterone were significantly lower in cases (all p-values <0.001). The rs605059 (HSD17B1), with sex-gene interaction, showed association with estradiol levels in males (p=0.035) and testosterone levels in females (p=0.027).
  
  
  CONCLUSIONS
  Testosterone levels correlate with high myopia, and interaction of steroidogenesis enzyme genes and sex may be a modulating factor in sex hormone metabolism and high-myopia risk.
authors.affiliation: Department of Ophthalmology, Taipei City Hospital Zhongxing Branch, Taipei, Taiwan ROC.
authors.forename: Zoe Tzu-Yi
authors.initials: ZT
authors.lastname: Chen
authors.forename: I-Jong
authors.initials: IJ
authors.lastname: Wang
authors.forename: Ya-Tang
authors.initials: YT
authors.lastname: Liao
authors.forename: Yung-Feng
authors.initials: YF
authors.lastname: Shih
authors.forename: Luke Long-Kuang
authors.initials: LL
authors.lastname: Lin
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000097:blood / Q000235:genetics; D015096:3-Hydroxysteroid Dehydrogenases / Q000097:blood / Q000235:genetics; D000328:Adult; D044466:Asian People; D016022:Case-Control Studies; D004797:Enzyme-Linked Immunosorbent Assay; D004958:Estradiol / Q000097:blood / Q000235:genetics*; D004960:Estradiol Dehydrogenases / Q000097:blood / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012737:Sex Factors; D013254:Steroid 17-alpha-Hydroxylase / Q000097:blood / Q000235:genetics; D013256:Steroids / Q000097:blood*; D013624:Taiwan / Q000453:epidemiology; D013739:Testosterone / Q000097:blood / Q000235:genetics*
chemical_list: D013256:Steroids; D013739:Testosterone; D004958:Estradiol; D015067:17-Hydroxysteroid Dehydrogenases; D015096:3-Hydroxysteroid Dehydrogenases; D004960:Estradiol Dehydrogenases; D013254:Steroid 17-alpha-Hydroxylase