COL1A1, COL4A3, TIMP2 and TGFB1 polymorphisms in cervical insufficiency
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Ana Paula V. D. Alves
,
José Eduardo Levi
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.
Funding source: Sao Paulo Research Foundation (FAPESP)
Award Identifier / Grant number: 2012/24920-9
Research funding: This study was supported by grant #2012/24920-9, from Sao Paulo Research Foundation (FAPESP).
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: The study protocol was approved by the Universidade de São Paulo Ethical Committee, (CAPPesq/CAAE 01186912.9.1001.0068).
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© 2021 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Review
- Neonatal lupus erythematosus – practical guidelines
- Original Articles – Obstetrics
- Optimal timing to screen for asymptomatic bacteriuria during pregnancy: first vs. second trimester
- Amniotic fluid embolism – implementation of international diagnosis criteria and subsequent pregnancy recurrence risk
- COL1A1, COL4A3, TIMP2 and TGFB1 polymorphisms in cervical insufficiency
- Pregnancy and neonatal outcomes of twin pregnancies – the role of maternal age
- Comparison of maternal third trimester hemodynamics between singleton pregnancy and twin pregnancy
- Daily monitoring of vaginal interleukin 6 as a predictor of intraamniotic inflammation after preterm premature rupture of membranes – a new method of sampling studied in a prospective multicenter trial
- Association between the number of pulls and adverse neonatal/maternal outcomes in vacuum-assisted delivery
- Original Articles – Fetus
- The effect of nuchal umbilical cord on fetal cardiac and cerebral circulation-cross-sectional study
- Recognition of facial expression of fetuses by artificial intelligence (AI)
- Correlation of first-trimester thymus size with chromosomal anomalies
- Fetal intracranial structures: differences in size according to sex
- Original Articles – Neonates
- Antenatal care and perinatal outcomes of asylum seeking women and their infants
- Maturation of the cardiac autonomic regulation system, as function of gestational age in a cohort of low risk preterm infants born between 28 and 32 weeks of gestation
- Short Communication
- The impact of transfers from neonatal intensive care to paediatric intensive care
- Letter to the Editor
- Differential microRNA expression in placentas of small-for-gestational age neonates with and without exposure to poor maternal gestational weight gain
Artikel in diesem Heft
- Frontmatter
- Review
- Neonatal lupus erythematosus – practical guidelines
- Original Articles – Obstetrics
- Optimal timing to screen for asymptomatic bacteriuria during pregnancy: first vs. second trimester
- Amniotic fluid embolism – implementation of international diagnosis criteria and subsequent pregnancy recurrence risk
- COL1A1, COL4A3, TIMP2 and TGFB1 polymorphisms in cervical insufficiency
- Pregnancy and neonatal outcomes of twin pregnancies – the role of maternal age
- Comparison of maternal third trimester hemodynamics between singleton pregnancy and twin pregnancy
- Daily monitoring of vaginal interleukin 6 as a predictor of intraamniotic inflammation after preterm premature rupture of membranes – a new method of sampling studied in a prospective multicenter trial
- Association between the number of pulls and adverse neonatal/maternal outcomes in vacuum-assisted delivery
- Original Articles – Fetus
- The effect of nuchal umbilical cord on fetal cardiac and cerebral circulation-cross-sectional study
- Recognition of facial expression of fetuses by artificial intelligence (AI)
- Correlation of first-trimester thymus size with chromosomal anomalies
- Fetal intracranial structures: differences in size according to sex
- Original Articles – Neonates
- Antenatal care and perinatal outcomes of asylum seeking women and their infants
- Maturation of the cardiac autonomic regulation system, as function of gestational age in a cohort of low risk preterm infants born between 28 and 32 weeks of gestation
- Short Communication
- The impact of transfers from neonatal intensive care to paediatric intensive care
- Letter to the Editor
- Differential microRNA expression in placentas of small-for-gestational age neonates with and without exposure to poor maternal gestational weight gain
