Polymorphisms of CYP1A1, CYP1A2, CYP19, and SULT1A1 genes in women with early miscarriage

Aim. To determine the frequency of the polymorphisms within the genes encoding estrogen metabolism enzymes: CYP1A1 (rs4646903), CYP1A2 (rs762551), CYP19 (rs700519) and SULT1A1 (rs9282861) in women with early miscarriage.Materials and Methods. We recruited 103 consecutive women who experienced early...

Full description

Saved in:
Bibliographic Details
Main Authors: I. N. Noskova, N. V. Artymuk, L. F. Gulyaeva
Format: Article
Language:Russian
Published: Kemerovo State Medical University 2019-12-01
Series:Фундаментальная и клиническая медицина
Subjects:
Online Access:https://fcm.kemsmu.ru/jour/article/view/189
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1850064796231139328
author I. N. Noskova
N. V. Artymuk
L. F. Gulyaeva
author_facet I. N. Noskova
N. V. Artymuk
L. F. Gulyaeva
author_sort I. N. Noskova
collection DOAJ
description Aim. To determine the frequency of the polymorphisms within the genes encoding estrogen metabolism enzymes: CYP1A1 (rs4646903), CYP1A2 (rs762551), CYP19 (rs700519) and SULT1A1 (rs9282861) in women with early miscarriage.Materials and Methods. We recruited 103 consecutive women who experienced early miscarriage (< 12 weeks of pregnancy, n = 103) and 257 women without past medical history of adverse pregnancy outcomes. Following DNA extraction, we genotyped all samples by means of restriction fragment length polymorphism analysis. We analyzed the polymorphisms within the CYP1A1 gene (T264 → C, rs4646903), CYP1A2 gene (C734 → A, rs762551), CYP19 gene (C → T, rs700519), and SULT1A1 gene (G638 → A, rs9282861).Results. We found a significantly increased prevalence of the mutant allele C as well as T/C and C/C genotypes of the rs4646903 polymorphism within the CYP1A1 gene and mutant T allele along with the T/C genotype of the rs700519 polymorphism within the CYP19 gene in women with early miscarriage as compared with those having a normal pregnancy course. Concurrently, we detected a reduced frequency of the C/A genotype of the rs762551 polymorphism within the CYP1A2 gene in patients who suffered from early miscarriage. The risk of miscarriage was significantly increased in carriers of CYP1A2 (rs762551 C/C) + CYP1A1 (rs4646903 T/C + C/C) + CYP19 (rs700519 C/T), CYP1A2 (rs762551 C/C) + CYP1A1 (rs4646903 T/C + C/C) + SULT1A1 (rs9282861 G/G) + CYP19 (rs700519 C/T), CYP19 (rs700519 C/T) + SULT1A1 (rs9282861 G/G), (CYP1A2 (rs762551 C/C) + CYP1A1 (rs4646903 T/C + C/C); CYP1A2 (rs762551 C/C) + CYP19 (rs700519 C/T), CYP19 (rs700519 C/T) + CYP1A1 (rs4646903 T/C + C/C), and SULT1A1 (rs9282861 G/G) + CYP1A1 (rs4646903 T/C + C/C) haplotypes. Investigation of the possible gene-environment interactions found a considerable increase in CYP1A1 (rs4646903 T/C) + CYP1A2 (rs762551 A/A) and CYP1A1 (rs4646903 T/C) + SULT1A1 (rs9282861 A/A) haplotypes in conjunction with a CYP1A2 (rs762551 A/A) + SULT1A1 (rs9282861 G/A) haplotype.Conclusion. Patients with early miscarriage more frequently have the mutant allele C as well as C/T or C/C genotypes of the rs4646903 polymorphism within the CYP1A1 gene and mutant allele T (in particular within the C/T genotype) of the rs700519 polymorphism within the CYP19 gene; in contrast, C/A genotype of the rs762551 polymorphism within the CYP1A2 gene was less common in these patients. Specific risk haplotypes revealed in our study may indicate a combination of estrogen-dependent and chemically induced process caused by the bioactivation of exogenous xenobiotics in patients with early miscarriage.
format Article
id doaj-art-22857e3541784cea8b8a13e643522b5f
institution DOAJ
issn 2500-0764
2542-0941
language Russian
publishDate 2019-12-01
publisher Kemerovo State Medical University
record_format Article
series Фундаментальная и клиническая медицина
spelling doaj-art-22857e3541784cea8b8a13e643522b5f2025-08-20T02:49:10ZrusKemerovo State Medical UniversityФундаментальная и клиническая медицина2500-07642542-09412019-12-0144475710.23946/2500-0764-2019-4-4-47-57175Polymorphisms of CYP1A1, CYP1A2, CYP19, and SULT1A1 genes in women with early miscarriageI. N. Noskova0N. V. Artymuk1L. F. Gulyaeva2Belyaev Kemerovo Regional Clinical HospitalKemerovo State Medical UniversityResearch Institute of Molecular Biology and Biophysics; Fundamental and Translational Medicine Federal Research CentreAim. To determine the frequency of the polymorphisms within the genes encoding estrogen metabolism enzymes: CYP1A1 (rs4646903), CYP1A2 (rs762551), CYP19 (rs700519) and SULT1A1 (rs9282861) in women with early miscarriage.Materials and Methods. We recruited 103 consecutive women who experienced early miscarriage (< 12 weeks of pregnancy, n = 103) and 257 women without past medical history of adverse pregnancy outcomes. Following DNA extraction, we genotyped all samples by means of restriction fragment length polymorphism analysis. We analyzed the polymorphisms within the CYP1A1 gene (T264 → C, rs4646903), CYP1A2 gene (C734 → A, rs762551), CYP19 gene (C → T, rs700519), and SULT1A1 gene (G638 → A, rs9282861).Results. We found a significantly increased prevalence of the mutant allele C as well as T/C and C/C genotypes of the rs4646903 polymorphism within the CYP1A1 gene and mutant T allele along with the T/C genotype of the rs700519 polymorphism within the CYP19 gene in women with early miscarriage as compared with those having a normal pregnancy course. Concurrently, we detected a reduced frequency of the C/A genotype of the rs762551 polymorphism within the CYP1A2 gene in patients who suffered from early miscarriage. The risk of miscarriage was significantly increased in carriers of CYP1A2 (rs762551 C/C) + CYP1A1 (rs4646903 T/C + C/C) + CYP19 (rs700519 C/T), CYP1A2 (rs762551 C/C) + CYP1A1 (rs4646903 T/C + C/C) + SULT1A1 (rs9282861 G/G) + CYP19 (rs700519 C/T), CYP19 (rs700519 C/T) + SULT1A1 (rs9282861 G/G), (CYP1A2 (rs762551 C/C) + CYP1A1 (rs4646903 T/C + C/C); CYP1A2 (rs762551 C/C) + CYP19 (rs700519 C/T), CYP19 (rs700519 C/T) + CYP1A1 (rs4646903 T/C + C/C), and SULT1A1 (rs9282861 G/G) + CYP1A1 (rs4646903 T/C + C/C) haplotypes. Investigation of the possible gene-environment interactions found a considerable increase in CYP1A1 (rs4646903 T/C) + CYP1A2 (rs762551 A/A) and CYP1A1 (rs4646903 T/C) + SULT1A1 (rs9282861 A/A) haplotypes in conjunction with a CYP1A2 (rs762551 A/A) + SULT1A1 (rs9282861 G/A) haplotype.Conclusion. Patients with early miscarriage more frequently have the mutant allele C as well as C/T or C/C genotypes of the rs4646903 polymorphism within the CYP1A1 gene and mutant allele T (in particular within the C/T genotype) of the rs700519 polymorphism within the CYP19 gene; in contrast, C/A genotype of the rs762551 polymorphism within the CYP1A2 gene was less common in these patients. Specific risk haplotypes revealed in our study may indicate a combination of estrogen-dependent and chemically induced process caused by the bioactivation of exogenous xenobiotics in patients with early miscarriage.https://fcm.kemsmu.ru/jour/article/view/189miscarriagegene polymorphismscyp1a1cyp1a2cyp19sult1a1
spellingShingle I. N. Noskova
N. V. Artymuk
L. F. Gulyaeva
Polymorphisms of CYP1A1, CYP1A2, CYP19, and SULT1A1 genes in women with early miscarriage
Фундаментальная и клиническая медицина
miscarriage
gene polymorphisms
cyp1a1
cyp1a2
cyp19
sult1a1
title Polymorphisms of CYP1A1, CYP1A2, CYP19, and SULT1A1 genes in women with early miscarriage
title_full Polymorphisms of CYP1A1, CYP1A2, CYP19, and SULT1A1 genes in women with early miscarriage
title_fullStr Polymorphisms of CYP1A1, CYP1A2, CYP19, and SULT1A1 genes in women with early miscarriage
title_full_unstemmed Polymorphisms of CYP1A1, CYP1A2, CYP19, and SULT1A1 genes in women with early miscarriage
title_short Polymorphisms of CYP1A1, CYP1A2, CYP19, and SULT1A1 genes in women with early miscarriage
title_sort polymorphisms of cyp1a1 cyp1a2 cyp19 and sult1a1 genes in women with early miscarriage
topic miscarriage
gene polymorphisms
cyp1a1
cyp1a2
cyp19
sult1a1
url https://fcm.kemsmu.ru/jour/article/view/189
work_keys_str_mv AT innoskova polymorphismsofcyp1a1cyp1a2cyp19andsult1a1genesinwomenwithearlymiscarriage
AT nvartymuk polymorphismsofcyp1a1cyp1a2cyp19andsult1a1genesinwomenwithearlymiscarriage
AT lfgulyaeva polymorphismsofcyp1a1cyp1a2cyp19andsult1a1genesinwomenwithearlymiscarriage