Polymorphisms in Genes Coding for Cytokines, Mannose-Binding Lectin, Collagen Metabolism and Thrombophilia in Women with Cervical Insufficiency

TLDR

The study investigates whether single nucleotide polymorphisms in seven genes—IL6, MBL2, COL1A1, factor II, factor V Leiden, and two others—are associated with cervical insufficiency. A case‑control design compared 30 women with a history of second‑trimester miscarriage or preterm birth due to cervical insufficiency to 70 matched controls. Homozygous IL6‑174 GG carriers had an OR of 3.1 and low‑/intermediate‑MBL2 genotypes an OR of 3.3, and serum MBL was markedly lower in cases, indicating these polymorphisms and reduced MBL increase risk of cervical insufficiency. © 2015 S.

Abstract

OBJECTIVE: To study the association between cervical insufficiency and single nucleotide polymorphisms in seven genes coding for pro- and anti-inflammatory cytokine-related factors, mannose-binding lectin 2 (MBL2), collagen1α1 (COL1A1), factor II and factor V Leiden genes. METHODS: In a case-control study, potential maternal biomarkers for cervical insufficiency were investigated in 30 women with a history of second-trimester miscarriage or preterm birth due to cervical insufficiency and in 70 control women. RESULTS: Homozygous carriers of the interleukin 6 (IL6) -174 genotype GG had an odds ratio (OR) of 3.1 [95% confidence interval (95% CI) 1.3-7.4, p = 0.01] and MBL2 genotypes coding for low or intermediate levels of plasma MBL had an OR of 3.3 (95% CI 1.2-9.0, p = 0.01) for cervical insufficiency compared with controls. Serum MBL levels were lower in women with cervical insufficiency than in controls (median 408 and 1,985 ng/ml, respectively, p < 0.01). CONCLUSIONS: Single nucleotide polymorphisms in the IL6 gene and the MBL2 gene and low MBL levels related to the latter polymorphism may increase the risk of preterm birth due to cervical insufficiency. © 2015 S. Karger AG, Basel.