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CYP11A, the gene encoding p450scc, a key enzyme in steroid biosynthesis, is a strong biological candidate for polycystic ovary syndrome (PCOS) susceptibility. Four of the five published studies that have examined CYP11A for evidence of linkage and/or association have reported significant relationships with polycystic ovary (PCO) status and/or serum testosterone levels. However, study sizes have been modest, and the current study aimed to reevaluate these findings using significantly larger clinical resources. A pair of CYP11A promoter microsatellites, including the pentanucleotide (D15S520) previously implicated in trait susceptibility, were genotyped in 371 PCOS patients of United Kingdom origin, using both case-control and family-based association methods, and in 1589 women from a population-based birth cohort from Finland characterized for PCO symptomatology and testosterone levels. Although nominally significant differences in allele and genotype frequencies at both loci were observed in the United Kingdom case-control study (for example, an excess of the pentanucleotide four-repeat allele in cases, P = 0.005), these findings were not substantiated in the other analyses, and no discernable relationship was seen between variation at these loci and serum testosterone levels. These studies indicate that the strength of, and indeed the existence of, associations between CYP11A promoter variation and androgen-related phenotypes has been substantially overestimated in previous studies.

Original publication

DOI

10.1210/jc.2003-031640

Type

Journal article

Journal

J Clin Endocrinol Metab

Publication Date

05/2004

Volume

89

Pages

2408 - 2413

Keywords

Adult, Alleles, Cholesterol Side-Chain Cleavage Enzyme, Cohort Studies, Female, Gene Frequency, Genetic Variation, Genotype, Humans, Microsatellite Repeats, Polycystic Ovary Syndrome, Polymorphism, Genetic, Promoter Regions, Genetic, Testosterone