Haplotype analysis of single nucleotide polymorphisms in anti-Müllerian hormone gene in Chinese PCOS women.
OBJECTIVE
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.
Center for Translational Medicine and Jiangsu Key Laboratory of Molecular Medicine, Medical School of Nanjing University, Nanjing 210093, China.
Pei
P
Xu
Shan-Mei
SM
Shen
Xin-Lin
XL
Zhang
Fengjing
F
Liang
Guang-Bin
GB
Xie
Long
L
Yi
Qian
Q
Gao
Yong
Y
Wang
D000328:Adult; D000704:Analysis of Variance; D054304:Anti-Mullerian Hormone / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002681:China; D005260:Female; D006239:Haplotypes; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D011085:Polycystic Ovary Syndrome / Q000097:blood / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011374:Progesterone / Q000097:blood; D055815:Young Adult
D011374:Progesterone; D054304:Anti-Mullerian Hormone; D007986:Luteinizing Hormone