Association of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of carotid atherosclerosis: a cross-sectional analysis of 730 Chinese Han adults in Chongqing

Abstract Background Uncertainty still remains on the correlation of methylenetetrahydrofolate reductase (MTHFR) variant C677T with risk of carotid atherosclerosis (CAS), and there is a lack of reports on C677T/MTHFR in the Asian population. The association of C677T/MTHFR polymorphisms with CAS in th...

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Main Authors: Xulei Peng, Yongli Zhou, Xiaoxing Wu, Xiaolin Wang, Huili Bai, Yongqiang Li, Zhichao Wang, Xuan Chen, Yonghong Wang
Format: Article
Language:English
Published: BMC 2020-05-01
Series:BMC Cardiovascular Disorders
Subjects:
Online Access:http://link.springer.com/article/10.1186/s12872-020-01505-1
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author Xulei Peng
Yongli Zhou
Xiaoxing Wu
Xiaolin Wang
Huili Bai
Yongqiang Li
Zhichao Wang
Xuan Chen
Yonghong Wang
author_facet Xulei Peng
Yongli Zhou
Xiaoxing Wu
Xiaolin Wang
Huili Bai
Yongqiang Li
Zhichao Wang
Xuan Chen
Yonghong Wang
author_sort Xulei Peng
collection DOAJ
description Abstract Background Uncertainty still remains on the correlation of methylenetetrahydrofolate reductase (MTHFR) variant C677T with risk of carotid atherosclerosis (CAS), and there is a lack of reports on C677T/MTHFR in the Asian population. The association of C677T/MTHFR polymorphisms with CAS in the Chinese Han population in Chongqing was investigated in the present study. Methods Subjects (n = 730, 214 females and 516 males, Han ethnicity) who provided an informed consent were randomly selected from the general population of Chongqing, China. Polymerase chain reaction-restriction fragment length polymorphism and Sanger sequencing genotyping assays were used to determine the MTHFR genotypes. The atherosclerosis index of the intima-media thickness (IMT) was measured by high-resolution ultrasound to evaluate the CAS. Less than 1.0 mm was considered as normal for IMT, 1.0–1.5 mm was considered as thickening, and ≥ 1.5 mm and a local bulge thickened in the lumen was considered as CAS. According to the carotid ultrasonography results, these subjects were divided into two groups: CAS-group (IMT ≥ 1.0 mm) and control group (IMT < 1.0 mm). Results The frequency of C/T heterozygotes, T/T homozygotes genotype was significantly higher in the subjects with CAS (62% vs. 36.9%; 16.2% vs. 9.5%; 47.2% vs. 27.9%, P < 0.05), while the frequency of C/C homozygotes and C allele was significantly lower (21.8% vs. 53.7%; 52.8% vs. 72.1%, P < 0.05), when compared to the control group. The risk of CAS was higher for subjects with C/T heterozygotes and T/T homozygotes (OR = 4.06, 95% CI: 2.76–5.98, P < 0.001 and OR = 3.14, 95% CI: 1.73–5.69, P < 0.001, respectively), when compared to the subjects with the C/C genotype. In the model 1 (CT + TT versus CC), C677T/MTHFR was significantly associated with the prevalence of CAS, and the all adjusted OR values for CAS were 3.87 (95% CI, 2.67 to 5.62) in all, 17.18 (95% CI, 7.27 to 40.49) in women and 2.57 (95% CI, 1.65 to 3.99) in men after adjusting for potential confounding factors. Conclusions The present study suggests that a mutation in the methylenetetrahydrofolate reductase gene is a risk factor of CAS in the Chinese Han population.
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spelling doaj.art-0386b6b3d34a4495868dd6eeb3af9ce72022-12-21T19:09:47ZengBMCBMC Cardiovascular Disorders1471-22612020-05-012011910.1186/s12872-020-01505-1Association of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of carotid atherosclerosis: a cross-sectional analysis of 730 Chinese Han adults in ChongqingXulei Peng0Yongli Zhou1Xiaoxing Wu2Xiaolin Wang3Huili Bai4Yongqiang Li5Zhichao Wang6Xuan Chen7Yonghong Wang8Department of Neurology, The First Affiliated Hospital of Chongqing Medical UniversityHealth Management Department, Chongqing General HospitalDepartment of Gastrointestinal Surgery, The First Affiliated Hospital of Chongqing Medical UniversityHealth Management Center, The First Affiliated Hospital of Chongqing Medical UniversityDepartment of the Clinical molecular Center, The First Affiliated Hospital of Chongqing Medical UniversityHealth Management Center, The First Affiliated Hospital of Chongqing Medical UniversityEmergency Department, The Third Affiliated Hospital Of ChongQing Medical UniversityDepartment of Neurology, The First Affiliated Hospital of Chongqing Medical UniversityHealth Management Center, The First Affiliated Hospital of Chongqing Medical UniversityAbstract Background Uncertainty still remains on the correlation of methylenetetrahydrofolate reductase (MTHFR) variant C677T with risk of carotid atherosclerosis (CAS), and there is a lack of reports on C677T/MTHFR in the Asian population. The association of C677T/MTHFR polymorphisms with CAS in the Chinese Han population in Chongqing was investigated in the present study. Methods Subjects (n = 730, 214 females and 516 males, Han ethnicity) who provided an informed consent were randomly selected from the general population of Chongqing, China. Polymerase chain reaction-restriction fragment length polymorphism and Sanger sequencing genotyping assays were used to determine the MTHFR genotypes. The atherosclerosis index of the intima-media thickness (IMT) was measured by high-resolution ultrasound to evaluate the CAS. Less than 1.0 mm was considered as normal for IMT, 1.0–1.5 mm was considered as thickening, and ≥ 1.5 mm and a local bulge thickened in the lumen was considered as CAS. According to the carotid ultrasonography results, these subjects were divided into two groups: CAS-group (IMT ≥ 1.0 mm) and control group (IMT < 1.0 mm). Results The frequency of C/T heterozygotes, T/T homozygotes genotype was significantly higher in the subjects with CAS (62% vs. 36.9%; 16.2% vs. 9.5%; 47.2% vs. 27.9%, P < 0.05), while the frequency of C/C homozygotes and C allele was significantly lower (21.8% vs. 53.7%; 52.8% vs. 72.1%, P < 0.05), when compared to the control group. The risk of CAS was higher for subjects with C/T heterozygotes and T/T homozygotes (OR = 4.06, 95% CI: 2.76–5.98, P < 0.001 and OR = 3.14, 95% CI: 1.73–5.69, P < 0.001, respectively), when compared to the subjects with the C/C genotype. In the model 1 (CT + TT versus CC), C677T/MTHFR was significantly associated with the prevalence of CAS, and the all adjusted OR values for CAS were 3.87 (95% CI, 2.67 to 5.62) in all, 17.18 (95% CI, 7.27 to 40.49) in women and 2.57 (95% CI, 1.65 to 3.99) in men after adjusting for potential confounding factors. Conclusions The present study suggests that a mutation in the methylenetetrahydrofolate reductase gene is a risk factor of CAS in the Chinese Han population.http://link.springer.com/article/10.1186/s12872-020-01505-1Methylenetetrahydrofolate reductaseCarotid arterosclerosisChineseRisk factors
spellingShingle Xulei Peng
Yongli Zhou
Xiaoxing Wu
Xiaolin Wang
Huili Bai
Yongqiang Li
Zhichao Wang
Xuan Chen
Yonghong Wang
Association of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of carotid atherosclerosis: a cross-sectional analysis of 730 Chinese Han adults in Chongqing
BMC Cardiovascular Disorders
Methylenetetrahydrofolate reductase
Carotid arterosclerosis
Chinese
Risk factors
title Association of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of carotid atherosclerosis: a cross-sectional analysis of 730 Chinese Han adults in Chongqing
title_full Association of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of carotid atherosclerosis: a cross-sectional analysis of 730 Chinese Han adults in Chongqing
title_fullStr Association of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of carotid atherosclerosis: a cross-sectional analysis of 730 Chinese Han adults in Chongqing
title_full_unstemmed Association of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of carotid atherosclerosis: a cross-sectional analysis of 730 Chinese Han adults in Chongqing
title_short Association of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of carotid atherosclerosis: a cross-sectional analysis of 730 Chinese Han adults in Chongqing
title_sort association of methylenetetrahydrofolate reductase mthfr variant c677t and risk of carotid atherosclerosis a cross sectional analysis of 730 chinese han adults in chongqing
topic Methylenetetrahydrofolate reductase
Carotid arterosclerosis
Chinese
Risk factors
url http://link.springer.com/article/10.1186/s12872-020-01505-1
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