Analysis of genetic polymorphism of methylenetetrahydrofolate reductase in a large ethnic Hakka population in southern China

Zhao, Pingsen; Hou, Jingyuan; Wu, Hesen; Zhong, Ming

doi:10.1097/md.0000000000013332

Cited by 9 publications

(6 citation statements)

References 37 publications

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“…The results indicated that 19.59% of individuals were wild-type homozygous (CC), 49.95% were heterozygous (CT), and the remaining individuals (30.46%) were mutant allele homozygous (TT). Previous studies on MTHFR gene polymorphism have shown considerable heterogeneity between different countries, and similar results have been observed in the Chinese population [ 2 , 3 ]. This present study showed that in north China the distribution of TT genotype in Shanxi was similar to that in Tianjin (30.4%) and Shaanxi (30.4%), lower than that in Shandong (40.8%) and Henan (37.0%), and higher than that in some of China's southern provinces such as Jiangsu (19.7%), Hubei (16.8%), Sichuan (13.8%), Yunnan (15.3%), Guangdong (8.3%), and Hainan (6.4%) [ 12 ].…”

Section: Discussionsupporting

confidence: 70%

“…It has been reported that the distribution of T alleles is the highest amongst the European population (24.5%–43.8%), followed by the Asian population (2.5%–36%) and African population (4.9%–9.1%) [ 2 ]. In terms of ethnic distribution, a previous study confirmed the differences in MTHFR C677T gene polymorphisms amongst 9 ethnic groups in China [ 3 ]. In the present study, the frequency of C677TT homozygous mutant genotypes in different provinces of China was investigated.…”

Section: Introductionmentioning

confidence: 65%

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Polymorphism of MTHFR C677T Gene and the Associations with the Severity of Essential Hypertension in Northern Chinese Population

Song

Hou

Zhao

et al. 2020

International Journal of Hypertension

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Objective. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme of homocysteine metabolism and is closely related to the occurrence of hypertension. The aim of this study was to investigate the polymorphism of the (MTHFR) C677T and the factors influencing the severity of hypertension. Material and Methods. A total of 985 subjects were enrolled to analyze the polymorphisms of the MTHFR C677T gene by polymerase chain reaction (PCR). 306 people with essential hypertension were selected from 985 subjects to estimate the severity of hypertension by the ordinal multivariate logistical regression model. Results. The frequencies of CC, CT, and TT genotypes were 19.5%, 49.95%, and 30.46%, respectively. The allelic frequency of mutant T was 55.43%. The plasma homocysteine level of the homozygous TT in individuals was significantly higher than in those with CC or CT P < 0.01 . MTHFR677CT genotype, MTHFR677TT genotype, smoking, family history of hypertension, Hcy, and triglycerides (TG) were independent risk factors for the severity of hypertension (OR = 2.29, 2.24, 2.04, 1.81, 1.04, 1.26). Conclusion. MTHFR gene, smoking, family history of hypertension, Hcy, and triglycerides could be important genetic and high-risk factors of the development of severe hypertension in northern Chinese. These factors will contribute to the identification of high-risk populations of hypertension and facilitate the development of hypertension control strategies.

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Section: Discussionsupporting

confidence: 70%

Section: Introductionmentioning

confidence: 65%

Polymorphism of MTHFR C677T Gene and the Associations with the Severity of Essential Hypertension in Northern Chinese Population

Song

Hou

Zhao

et al. 2020

International Journal of Hypertension

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“…Previous studies have shown that there are more than 40 sites of polymorphism in MTHFR (10) , of which C677T and A1298C are the most important (11) . Compared with 677CC genotype, 677TT genotype performances about 34% MTHFR activity, while heterozygote 677CT shows about 65% MTHFR activity (12) .…”

Section: Introductionmentioning

confidence: 90%

WITHDRAWN: Analysis of Hyperhomocysteinemia and Related Factors : A Case - Control Study in Northeast China

Ding

Zhang

Yang

et al. 2021

Preprint

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Objectives. Hyperhomocysteinemia (HHcy) is an easily neglected disease, which can be hidden in the body for many years without signs or symptoms. We want to explore the causes of HHcy, the correlation of HHcy with micronutrients, lifestyle, dietary habits and HHcy related genes, preventing the occurrence of HHcy.Methods. 800 subjects (M/F, 403/397) were divided into normal Hcy and HHcy group according to the plasma levels of Hcy, compared essential characteristics by questionnaires, genetic polymorphism tested by Realtime PCR and micronutrients detected by mass spectrometry. The statistical analysis methods were Chi - square tests, ANOVA, logistic regression. This trial has been registered with the trial number ChiCTR1900025136. Results. 42.66% of 143 HHcy cases were aged from 10 to 18, with higher levels of zinc (Zn), vitamin A, Uric acid (P < 0.05) and a lower level of 25-OH-D3, VB12, folic acid (Fol) (P < 0.05) compared to the normal group. The multivariate logistic regression significantly predicted HHcy development containing higher level of Zinc (Exp(B) = 1.042; 95% CI, 1.000 - 1.086), higher Uric (Exp(B) = 1.014; 95% CI, 1.008 - 1.019), lower B12 (Exp(B) = 0.993; 95%CI, 0.989 - 0.997), lower Folic acid (Exp(B) = 0.772; 95% CI, 0.657 - 0.907), and polymorphism of MTHFR C677T (Exp(B) = 2.923; 95% CI, 1.399–6.107).Conclusion. Pay more attention to those students who were facing great pressure because they are very likely to be potential HHcy patients with high levels of uric acid and zinc and anxiety.

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“…[ 4 , 5 , 21 ] Moreover, the MTHFR 677C>T polymorphism is a commonly known heritable risk factor for elevated blood Hcy levels. [ 22 ] However, the T allele frequency of MTHFR 677C>T is highly variable throughout the world, with frequencies as high as 64.3% in Europeans and low frequencies of 4.9% to 9.1% among African populations. [ 23 , 24 ] In this study, we conducted the genotyping of 3378 perinatal women as a means of detecting the frequency of the MTHFR 677C>T polymorphism in this population (Table 1 ).…”

Section: Discussionmentioning

confidence: 99%

Prevalence of the methylenetetrahydrofolate reductase 677C>T polymorphism in the pregnant women of Yunnan Province, China

Liang

Xia

et al. 2020

Medicine

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Mutations in the methylenetetrahydrofolate reductase ( MTHFR ) gene can result in a reduced ability to utilize folic acid. The MTHFR 677C>T polymorphism in particular has been linked to both birth defects and pregnancy-associated diseases. This study aimed to evaluate the prevalence of the MTHFR 677C>T mutation among pregnant women in Yunnan Province so as to collect baseline data that may be utilized to guide folic acid supplementation efforts and to support related disease prevention programs. We retrospectively reviewed 3387 pregnant women from Yunnan Province. The MTHFR 677C>T polymorphism was identified using polymerase chain reaction (PCR) and DNA sequencing. In total, 1350 (39.9%) subjects were homozygous for the C allele (CC), 1540 (45.4%) subjects were heterozygous (CT), and 497 (14.7%) subjects were homozygous for the T allele (TT). The MTHFR 677C>T polymorphism was found to be present within the studied population, with ∼60% of these patients being either heterozygous or homozygous for the mutant allele and with an overall T allele frequency of 0.37. The frequency of the T allele was significantly higher among pregnant women with complications relative to women with healthy pregnancies, particularly among women <30 years old. As such, the maternal MTHFR 677C>T polymorphism may be a genetic risk factor associated with pregnancy complications and may help identify pregnant women at a high risk of such complications.

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Analysis of genetic polymorphism of methylenetetrahydrofolate reductase in a large ethnic Hakka population in southern China

Cited by 9 publications

References 37 publications

Polymorphism of MTHFR C677T Gene and the Associations with the Severity of Essential Hypertension in Northern Chinese Population

Polymorphism of MTHFR C677T Gene and the Associations with the Severity of Essential Hypertension in Northern Chinese Population

WITHDRAWN: Analysis of Hyperhomocysteinemia and Related Factors : A Case - Control Study in Northeast China

Prevalence of the methylenetetrahydrofolate reductase 677C>T polymorphism in the pregnant women of Yunnan Province, China

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