Recurrent pregnancy loss is a multifactorial disorder involving environmental and genetic factors. The study is
aimed to evaluate the association of two intronic polymorphisms of Estrogen receptor (ESR1) gene (-397C/T & -351A/G) with
RPL in ethnic Kashmiri population. Methods: 180 patients with RPL and 200 control subjects were genotyped by a PCR-RFLP
method. Results: Statistically significant increased frequencies of AG+GG genotype [OR, 3.61; 95% CI (2.30–5.67); P < 0.001]
and the G allele [OR, 2.51; 95% CI (1.88–3.44); P < 0.001] of ESR1-351A/G (rs 9340799) is seen in RPL patients compared to
healthy controls. Moreover, Haplotype analysis revealed that AG/CC, AG/CT, AG/TT, GG/CC, GG/CT and GG/TT genotype are
significantly associated with RPL. Conclusion: In conclusion we found that the ESR1-351A/G SNP is significantly associated
with the risk of RPL whereas the ESR1- 397C/T showed no association with RPL.
