Evaluation of the Prevalence of Exons 1 And 10 Polymorphisms of LHCGR Gene and Its Relationship with IVF Success

BACKGROUND: Luteinizing hormone receptor gene shows four nonsynonymous polymorphisms within the exons. Three of these polymorphisms, i.e. rs4539842 (an insertion of 6bp CTGCAG at nucleotide position 54), rs12470652 (c.827A>G/p.Asn 291Ser), and rs2293275(c.935G>A/p.Ser312Asn) have been studied more frequently. Beside other hormones, LH and FSH have an important role in production of competent oocyte and female fertility. Therefore, the objective of the current study was to investigate the prevalence of exons 1(rs4539842) and 10(rs12470652, rs2293275) polymorphisms of the LHCGR gene and its relationship with successful IVF in Iranian infertile women. METHODS: SNPs in exons 1 and 10 were analyzed in 100 women of two equally sized groups of IVF failure and IVF success women using genomic DNA. For polymorphisms in exon 10, PCR and direct sequencing were used and for the polymorphism in exon 1, RFLP technique was used. The RFLP technique is confirmed by sequencing. RESULTS: Our results showed significant difference in allelic frequency of SNP rs2293275 among IVF successful and IVF failure groups (p=0.001). For this variation, AA genotype (A allele) was shown to have protective effect against IVF failure (p=0.03 and OR=0.04), while GG genotype (G allele) was a susceptive genotype to IVF failure (p=0.003 and OR=3.88).Allelic frequency of SNP rs4539842 also showed significant difference between the two groups (p=0.0025). For this SNP, subjects with no 6bp insertion (homozygote deletion genotype) were susceptible to failure in IVF (p=0.009 and OR=2.93). CONCLUSION: It has been revealed that two common SNPs (rs4539842 and rs2293275) in the LHCGR gene are associated with the outcome of IVF in Iranian infertile women. Thus, these two SNPs can be suggested to be used as predictors for IVF outcome in Iranian population.