Identification of premature ovarian failure‐associated genes through whole‐genome genotyping with 100K SNPs

Abstract

The clinical criterion for premature ovarian failure (POF) is the cessation of menstruation before the age of 40. It is a primary ovarian defect characterized by absent menarche (primary amenorrhea) or premature depletion of ovarian follicles (secondary amenorrhea). The incidence of POF is about 2% of women during their reproductive life. POF is one of the well known complex genetic diseases. However, causative genes or genomic regions are in mist. By using exon-centric 100K SNP microarray (Illumina¡¯s Infinium Assay I), we performed the whole-genome genotyping with POF and their matched controls. This microarray technology is based on the allele-specific primer extension. One hundred and fifty-two genes were associated with POF, including BCKDHB. Many of the genes we found were very new in the field of POF. This result may mean that unrevealed pathological pathways exist for POF. Many POF-associated haplotypes and their tagging SNPs were identified, also. In this study we found POF associated genes and haplotype blocks by using 100K SNP chips. Determination of causative SNPs and their functional role in the pathogenesis of POF is under way.