Molecular Genetics Study Of CXCL12and AMH Genes For Chinese Women With Idiopathic Premature Ovarian Failure

Chemokine (C-X-C motif) ligand12(CXCL12/stromal cell-derived factor1) has been suggested to play an essentialrole in primordial germ cell migration, colonization and survival, and in the primordial to primary follicle transition. This study was performed to investigate an association of polymorphisms in CXCL12with the risk of premature ovarian failure (POF) in Chinese patients.Tagging single nucleotide polymorphisms (SNPs) were selected using the Chinese HapMap database. Five SNPs (rs4948878,rs1801157, rs266087, rs266093and rs1029153) were genotyped by direct sequencing in111patients with POF and183healthy controls recruited from the First Affiliated Hospital, Anhui Medical University, China. Compared with controls, there were significantly higher frequencies of the rs1801157A allele and haplotype C-T-A-T-T in cases with POF [P1/46.38E207, odds ratio (OR)1/43.10,95%confidence interval (CI)1.955-4.890by allele; P1/47.0E204, OR1/42.39,95%CI1.43-3.97by haplotype]. No differences were observed for the other four SNPs between POF cases and controls. A strong association between a CXCL12polymorphism and POF was established in Chinese patients, suggesting that CXCL12might be a new candidate gene involved in POF. The A allele of CXCL12polymorphism rs1801157is a possible risk factor for developing POF. However, further independent studies are necessary to confirm our findings. Abstract Objective:To investigate the relationship between the Anti-Miillerian Hormone Gene mutation and the Chinese women with premature ovarian failure.Methods:A total of100POF patients,100healthy female controls were recruited from the First Affiliated Hospital, Anhui Medical University, Mutational analysis of DNA in100POF patients and100healthy controls. Result(s):A novel mutation Ala372Thr was found in a subject among the100Chinese POF patients and in none of100healthy controls. The372amino acids of AMH is conserved among human, house mouse, norway rat, cattle and pig. Conclusion(s):This is the first report of AMH mutation in POF patient, suggesting AMH mutations may be one explanation for POF.