Abstract
Objective. To study the role of fibulin-5 (FBLN5) gene polymorphisms in the genesis of cervical insufficiency (CI). Patients and methods. This observational retrospective study included 49 patients with clinical manifestations of CI and 31 patients without history of CI. Four most studied single-nucleotide polymorphisms (SNPs) in the FBLN5 gene were selected: rs2284337, rs2018736, rs2474028, rs12589592. DNA was extracted from whole venous blood, and genotyping was performed by polymerase chain reaction (PCR). STATISTICA 12.0 and SNPstats software packages were used for statistical data processing. Results. It was found that the rs2474028(T) allele of the FBLN5 gene is associated with a risk of developing CI (p = 0.0019). In addition, a comparison of a high-risk CI subgroup and a control group revealed that carriage of the heterozygous rs2018736(A/C) or the heterozygous rs12589592(A/G) genotypes of the FBLN5 gene is protective and reduces the risk of developing CI (p = 0.019 and p = 0.0021, respectively). Conclusion. The presence of single-nucleotide polymorphisms in the FBLN5 gene is associated with the development of CI. Key words: cervical insufficiency, pathogenesis, fibulin-5, FBLN5, SNP
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