Collagen 1Α1 and Transforming Growth Factor-β Polymorphisms in Women With Cervical Insufficiency

TLDR

To determine whether genetic variants are more common in women with cervical insufficiency, the study compared polymorphisms in the COL1A1 and TGF‑β genes between affected women and controls. The researchers collected medical histories and blood from 121 women with cervical insufficiency and 165 controls, extracted DNA, and used allele‑specific PCR to genotype the COL1A1 intron 1SP1 and TGF‑β Arg‑25‑Pro polymorphisms. Women with cervical insufficiency showed higher frequencies of the COL1A1 TT genotype (10.8 % vs 3.1 %) and of TGF‑β Arg‑25‑Pro variants (38.3 % vs 14.6 %), and over a quarter had a family history, indicating a genetic contribution to the condition.

Abstract

To estimate whether polymorphisms in the collagen 1Alpha1 gene (COL1Alpha1) and the transforming growth factor-beta gene (TGF-beta;1) are more common in women with cervical insufficiency than in those without the condition.Medical, obstetric, and family histories and blood were obtained from women with (n=121) and those without (n=165) cervical insufficiency. DNA was extracted and purified by using commercial DNA isolation kits. Samples were analyzed for variants in two genes, the COL1A1 intron 1SP1 and TGF-beta Arg-25-Pro polymorphism, by using an allele-specific polymerase chain reaction assay.Thirty-four of 125 (27.2%) women with cervical insufficiency had at least one first-degree female relative affected. The frequency of the homozygous TT genotype in the COL1A1 gene was increased in women with a history of cervical insufficiency compared with controls (10.8% compared with 3.1%, P=.04). The TGF-beta polymorphisms (ArgPro and ProPro) also were increased in cases (38.3% compared with 14.6%, P<.001).Over one fourth of women with cervical insufficiency have a family history of cervical insufficiency, and the COL1A1 intron 1SP1 and TGF-beta Arg-25-Pro polymorphisms are associated with the condition. These observations suggest that, in part, cervical insufficiency is mediated by genetic factors.II.