FST Gene, ESR1 Gene Special Correlation With Chinese Han Population Onset Of Premature Ovarian Failure

Objective:To investigate whether variants in the follistatin (FST) gene are present in Chinese women with idiopathic premature ovarian failure (POF).Methods:80idiopathic POF patients and80healthy controls were recruited and the peripheral blood was collected. Genomic DNA was extracted from peripheral leukocytes with Axprep DNA Blood Kit. The entire coding region and splice sites of the FST gene were amplified by polymerase chain reaction (PCR) using primers designed by Primer Premier5.0software. All the PCR products were directly sequenced on an ABI3730XL automated sequencer. Web-based programs ClustalX and PolyPhen were used to predict the potential functional or structural impacts of the missense variants on the FST gene.Results:Three variants of the FST gene were identified namely c.270＞G, c.598G>C and c.953-184A>T (rs722910). The synonymous variant (c.270C＞G) in exon2which was discovered only in one of the POF patients did not result in a change in amino acid sequence (p.Pro90Pro). The novel missense mutant c.598G>C located in exon4was detected only in one health control, resulting in a substitution of an alanine with proline in position200of the protein. However, this substitution did not occur at a position that is highly conserved among species. The functional effect of this substitution might not have any deleterious effect on the structure or function of the protein. The genotypic distribution of the known SNP rs722910in the POF patients was as follows:AA16.3%(13/80), AT47.5%(38/80) and TT38.2%(29/80). Both genotype distribution and allele frequency of the known SNP rs722910showed no difference between POF patients and controls. Conclusion:These data suggest that the FST gene may not be responsible for idiopathic POF, at least in the Chinese population. Objective:To evaluate the relationship between estrogen receptor a (ERa/ESRl) gene polymorphisms and idiopathic premature ovarian failure (POF) in Chinese women.Methods:155Chinese women with idiopathic POF and155healthy controls were enrolled and the peripheral blood was collected. Genomic DNA was extracted from peripheral leukocytes with Axprep DNA Blood Kit. All subjects were analyzed at the PvuⅡ and XbaI loci of the ESR1gene using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLPs). The genotype distributions and frequencies of alleles and haplotypes were compared between cases and controls.Results:The ESR1PvuII genotypes among idiopathic POF patients distributed as follows:38.1%(59/155) were homozygous for pp,47.7%(74/155) were Pp and14.2%(22/155) were homozygous for PP, while the prevalence of ESR1XbaI genotypes was xx61.3%(95/155), Xx35.5%(55/155) and XX3.2%(5/155), respectively. In addition, P allele frequency in case group was38.1%, and that in control group was28.7%. X allele frequency in case group was21.0%, and that in control group was14.5%. The allele frequencies of P and X in POF patients are significantly higher than that of controls (P＜0.05). Moreover, our date showed that women with the P-X haplotype might have1.66times higher risk of POF than women with the p-x haplotype (P＜0.05)Conclusion:The data suggest that the PvuII and XbaI polymorphisms of ESRl gene are associated with idiopathic POF. P allele and P-X haplotype might increase the risk of developing POF in Chinese women, but x allele of the ESR1Xbal polymorphism might play a crucial role to protect against POF.