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- Title
COL1A1, COL4A3, TIMP2 and TGFB1 polymorphisms in cervical insufficiency.
- Authors
Alves, Ana Paula V. D.; Freitas, Amanda B.; Levi, José Eduardo; Amorim Filho, Antonio G.; Franco, Lucas A. M.; Hoshida, Mara Sandra; Patiño, Elizabeth G.; Francisco, Rossana P. V.; Carvalho, Mario Henrique B.
- Abstract
To investigate the association between selected single nucleotide polymorphisms (SNPs) with cervical insufficiency and its relationship with obstetric history. 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). 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). 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.
- Subjects
COLLAGEN; TRANSFORMING growth factors-beta; MATERNAL health services; SEQUENCE analysis; GENETIC mutation; GROWTH factors; SINGLE nucleotide polymorphisms; UTERINE cervix incompetence; PROTEOLYTIC enzymes; ALLELES; GESTATIONAL age; GENETIC disorders; GENOTYPES; STATISTICAL correlation; PREMATURE labor
- Publication
Journal of Perinatal Medicine, 2021, Vol 49, Issue 5, p553
- ISSN
0300-5577
- Publication type
Article
- DOI
10.1515/jpm-2020-0320