Polycystic ovary syndrome: an ancient disorder?

Abstract

Polycystic ovary syndrome (PCOS) appears to be an ancient disorder, which has persisted in human evolution despite reduced fecundity because of the benefits to affected women such as greater sturdiness and improved energy utilization, a rearing advantage for their children and kin, and a reduction in the risk of perinatal mortality. This raises the possibility that gene variants that are eventually found to be associated with PCOS will be similar across ethnic groups and races.

Figure 1

Proposed BMI-fecundity relationship in PCOS

Figure 2

Effect of time on linkage disequilibrium. Both linkage disequilibrium (LD) plots represent a 100-kb area centered around the microsatellite D19S884 (location approximately indicated by black arrows), a marker for which one allele has been associated with PCOS in multiple studies (37). The data were downloaded from the International HapMap Project (Phase II+III, Release 27, http://hapmap.ncbi.nlm.nih.gov); plots were generated using Haploview (version 4.2, http://www.broadinstitute.org/mpg/haploview). The top LD plot is from Yoruba subjects from Ibadan, Nigeria (YRI), and the bottom panel is that of the Utah residents with ancestry from northern and western Europe (CEU). The LD plots display D’ values for each pair of SNPs in the box at the intersection of the diagonals from each SNP. The darker boxes indicate greater degrees of LD for the corresponding pair of variants. Triangles around boxes indicate haplotype blocks determined by the confidence intervals algorithm in Haploview. The older Yoruba population exhibits less extensive LD and smaller haplotype blocks.