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. 2021 Feb 8;49(5):553-558.
doi: 10.1515/jpm-2020-0320. Print 2021 Jun 25.

COL1A1, COL4A3, TIMP2 and TGFB1 polymorphisms in cervical insufficiency

Ana Paula V D Alves  1 , Amanda B Freitas  1 , José Eduardo Levi  2 , Antonio G Amorim Filho  3 , Lucas A M Franco  4 , Mara Sandra Hoshida  5 , Elizabeth G Patiño  1 , Rossana P V Francisco  1 , Mario Henrique B Carvalho  1
Affiliations

COL1A1, COL4A3, TIMP2 and TGFB1 polymorphisms in cervical insufficiency

Ana Paula V D Alves et al. J Perinat Med. .

Abstract

Objectives: To investigate the association between selected single nucleotide polymorphisms (SNPs) with cervical insufficiency and its relationship with obstetric history.

Methods: Twenty-eight women with cervical insufficiency (case group) and 29 non-pregnant women (control group) were included. The SNPs sequenced included rs2586490 in collagen type I alpha 1 chain (COL1A1), rs1882435 in collagen type IV alpha 3 chain (COL4A3), rs2277698 in metallopeptidase inhibitor 2 (TIMP2), and rs1800468 in transforming growth factor beta 1 (TGFB1).

Results: We found a higher frequency of the normal allele in the control group (65.5%) and the homozygous mutated genotype in the case group (64.3%) for rs2586490 in COL1A1 (p=0.023). An unplanned finding in the cervical insufficiency group was a higher gestational age of delivery (median≥38 weeks) in the mutated allele than in the wild-type genotype (median of 28.2 weeks) for rs2857396, which is also in the COL1A1 gene (p=0.011).

Conclusions: The findings of the present study corroborate the hypothesis that cervical insufficiency has a genetic component and probably involves genes encoding proteins in the extracellular matrix, in addition to inflammatory processes.

Keywords: COL1A1; COL4A3; SNP; TGFB1; TIMP2; cervical weakness; pregnancy; preterm labour; single nucleotide polymorphism.

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References

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