Haplotype analysis of single nucleotide polymorphisms in anti-Müllerian hormone gene in Chinese PCOS women.

Purpose: Anti-Müllerian hormone (AMH) inhibits FSH-stimulated follicle growth and aromatase activity. The three fold higher serum AMH in PCOS patients may account for the increased number of small follicles and androgen level. We attempted to determine whether polymorphisms in AMH gene were associated with PCOS in Chinese han population.
Methods: A case-control study involving 475 PCOS patients and 512 normoovulatory women was conducted. Rs10407022 and rs8112524 were two tagging SNPs selected according to the HapMap database. Taqman assay was used for rs8112524 genotyping, and PCR-RFLP method for rs10407022.
Results: No significant difference was found in genotypic or allelic distributions of both of the two SNPs, rs10407022 and rs8112524, between PCOS women and controls. LH level and progesterone level were significantly higher in rs8112524 AA genotype in PCOS group (P = 0.012, 0.014 respectively). TA haplotype might enhance susceptibility to PCOS (P = 0.013, OR = 4.996, 95 % CI = 2.001-5.251), and GA haplotype might be protective (P = 0.000, OR = 0.117, 95 % CI = 0.049-0.417).
Conclusions: Although individual TagSNPs in AMH gene do not affect susceptibility to PCOS, haplotypes of the two SNPs were associated with PCOS risk, as TA haplotype might enhance susceptibility to PCOS and GA inversely.