The association of polymorphisms in promoter region of MMP2 and MMP9 with recurrent spontaneous abortion risk in Chinese population

Abstract

This study aimed to reveal the genetic association between polymorphisms in promoter region of matrix metalloproteinase 2 (MMP2) and matrix metalloproteinase 9 (MMP9) and the risk of recurrent spontaneous abortion (RSA) in Chinese population.A total of 129 RSA patients and 116 relative controls were selected and the genotyping of polymorphism was conducted by polymerase chain reaction with sequencing. Genotype distribution of polymorphism in the control group was tested the status of Hardy–Weinberg equilibrium and then, genotype frequencies were compared between the case and control groups by chi-squared test. Odds ratio (OR) with the corresponding 95% confidence interval (95% CI) was computed to express the risk of RSA caused by polymorphism. Moreover, the linkage disequilibrium of polymorphisms in MMP2 was analyzed by Haploview software.CT genotype and T allele of rs243865 in MMP2 were significantly associated with the increased susceptibility to RSA in Chinese population (CT vs. CC: OR = 1.926, 95% CI = 1.101–3.368; T vs. C: OR = 1.751, 95% CI = 1.146–2.676). Similarly, CT genotype carriers of rs3918242 in MMP9 were obviously more in RSA patients than that of the controls (P = .037), which indicated it was associated with the risk of RSA occurrence (OR = 1.760, 95% CI = 1.034–2.995). So was T allele in RSA development (OR = 1.595, 95% CI = 1.061–2.398). Haplotypes C-T and T-C were also the risk factors of RSA (OR = 1.673, 95% CI = 1.103–2.536; OR = 2.171, 95% CI = 1.372–2.436).MMP2 rs243865 and MMP9 rs3918242 polymorphisms are significantly associated with the risk of RSA in Chinese population.

Association between idiopathic recurrent pregnancy loss and genetic polymorphisms in cytokine and matrix metalloproteinase genes

“…They agrees with the results of Behforouz et al [23], Pereza et al [27], and Ramu et al [28]. In contrast Li et al [19], showed that the polymorphism rs243865 were significantly associated with an increased susceptibility to recurrent miscarriages.…”

“…These observations were similar to the results presented by Li et al, and. Behforouz et al [19,23]. However, not all studies are in consistency with results of the present study.…”

“…Each of these phenomena may be genetically determined. Recent research results show that cytokines and extracellular matrix metalloproteinases (MMPs) are important determinants of the opening of the implantation window and the proper invasion of trophoblast into the uterine wall and maintenance of pregnancy [16][17][18][19].…”

Efficacy of aspirin, prednisone, and multivitamin triple therapy in treating unexplained recurrent spontaneous abortion: A cohort study

“…In almost 50% of RSA cases, however, the underlying cause is unknown; in this case, the condition is known as unexplained RSA (URSA). The treatment for URSA is problematic with no widely accepted therapeutic option, bringing distress to both the affected women and their families . Therefore, it is essential to investigate effective treatments and improve the rate of successful pregnancy in URSA.…”

Association between the rs2288947 polymorphism of the lncRNA TINCR gene and the risk of recurrent miscarriage in a Southern Chinese population

“…Studies have found that susceptibility genes have an important relationship to the pathogenesis of recurrent spontaneous abortion . In recent years, with the increase in research on recurrent abortion, an increasing number of susceptibility genes, such as MMP2, MMP9, CTLA4, FOXP3, and THBD, have been found to be associated with susceptibility to recurrent miscarriage . In addition, studies have confirmed that some genes that regulate cell migration are associated with susceptibility to recurrent miscarriage Studies have also found that long non‐coding RNA (lncRNA) polymorphisms are also associated with recurrent miscarriage.…”