COL1A1, COL4A3, TIMP2 and TGFB1 polymorphisms in cervical insufficiency

Author(s)

Alves, Ana Paula V. D. ^[1] ; Freitas, Amanda B. ^[1] ; Levi, Jose Eduardo ^[2] ; Amorim Filho, Antonio G. ^[3] ; Franco, Lucas A. M. ^[4] ; Hoshida, Mara Sandra ^[5] ; Patino, Elizabeth G. ^[1] ; Francisco, V, Rossana P. ; Carvalho, Mario Henrique B. ^[6]

Affiliation

^[1] V, Univ Sao Paulo, Fac Med FMUSP, Dept Obstet & Ginecol, Disciplina Obstet, Sao Paulo, SP - Brazil

^[2] Univ Sao Paulo, Inst Med Trop, Lab Virol, Sao Paulo, SP - Brazil

^[3] Univ Sao Paulo, Hosp Clin HCFMUSP, Fac Med, Div Clin Obstetr, Sao Paulo, SP - Brazil

^[4] Univ Sao Paulo, Inst Med Trop, Dept Infect Dis, Lab Parasitol, Sao Paulo, SP - Brazil

^[5] Univ Sao Paulo, Hosp Clin HCFMUSP, Fac Med, LIM57 Lab Fisiol Obstetr, Sao Paulo, SP - Brazil

^[6] Univ Sao Paulo, Fac Med FMUSP, Dept Obstet & Ginecol, Disciplina Obstet, Inst Cent, 10th Floor, Suite 10094 Av Dr Eneas de Carvalho, BR-05403000 Sao Paulo, SP - Brazil

• Document type: Journal article
• Source: JOURNAL OF PERINATAL MEDICINE; v. 49, n. 5, p. 553-558, 2021.
• Web of Science Citations: 0

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 wildtype 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. (AU)

• FAPESP's process: 12/24920-9 - Association of genetic factor and risk for preterm delivery in women with cervical insufficiency
• Grantee: Mario Henrique Burlacchini de Carvalho
• Support Opportunities: Regular Research Grants