Association study of and polymorphisms and their influence on Iranian women with recurrent abortion.

Objective: Recurrent spontaneous abortion (RSA), characterized by multiple miscarriages without a known cause, includes both genetic and non-genetic factors. In this research, we studied the association between two polymorphisms of the and genes and RSA for the first time in the southwest of Iran.

Materials And Methods: This was a case-control study involving 62 patients with a history of at least two RSA of unknown etiology, as well as 66 healthy individuals. Clinical factors were analyzed. Genomic DNA was extracted from whole blood. Genotyping was performed using amplification refractory mutation system-polymerase chain technique to investigate two single nucleotide polymorphisms (SNPs) of and genes. Gene-gene interactions were analyzed by logistic regression. Statistical analysis was performed using a significance level of p<0.05.

Results: Allelic and genotypic frequencies as well as dominant, recessive and over dominant models for two SNPs, rs1042522 and rs1800871, were investigated. No significant association with RSA (p>0.05) was found. The combination of the homozygote CC for the polymorphism rs1042522 in the gene and the homozygote CC for the polymorphism rs1800871 in the homozygote CC for the polymorphism rs1800871 in the gene was associated with an increased risk of spontaneous abortion (p=0.01). Meanwhile, the phenotypic frequency of individuals with a history of consanguineous marriage was statistically significant between the case and control groups (p=0.003).

Conclusion: Limited studies have been conducted on the association between these two polymorphisms and RSA, and conflicting results have been obtained. Further investigation with a larger sample size may confirm results. Genetic research, such as this, helps understand genetic factors associated with the risk of RSA.