Prevalence of the polymorphism MTHFR A1298C and not MTHFR C677T is related to chromosomal aneuploidy in Brazilian Turner Syndrome patients

BACKGROUND: Dysfunctions in the folate metabolism can result in DNA hypomethylation and abnormal chromosome segregation. Two common polymorphisms of this enzyme (C677T and A1298C) reduce its activity, but when associated with aneuploidy studies the results are conflicting. The objective of the present study is to analyze the MTHFR gene polymorphisms in women with Turner Syndrome and in a control group, correlating the findings to the chromosomal aneuploidy. METHODS: The study comprised 140 patients with Turner Syndrome, of which 36 with chromosome mosaicism and 104 non-mosaics, and a control group of 209 fertile and healthy women without a history of any offspring with aneuploidy. Polymorphisms C677T and A1298C were studied by RFLP-PCR and the results were statistically analyzed. RESULTS: The frequency of genotypes MTHFR 677CC, 677CT and 677TT in the patients with Turner Syndrome and chromosome mosaicism was, respectively, 58.3%, 38.9% and 2.8%. Among the patients with non-mosaic Turner Syndrome, 47.1% presented genotype 677CC, 45.2% genotype 677CT, and 7.7% genotype 677TT. Among the 209 individuals of the control group, genotypes 677CC, 677CT and 677TT were found at the following frequencies: 48.3%, 42.1% and 9.6%, respectively. As for polymorphism A1298C, the patients with Turner Syndrome and chromosome mosaicism presented genotypes 1298AA, 1298AC and 1298CC at the following frequencies: 58.3%, 27.8% and 13.9%, respectively. Among the non-mosaic Turner Syndrome patients, genotype 1298AA was found in 36.5%, genotype 1298AC in 39.4%, and genotype 1298CC in 22.1%. In the control group, genotypes 1298AA, 1298AC and 1298CC were present at the following frequencies: 52.6%, 40.7% and 6.7%, respectively. CONCLUSION: No correlation was observed between the MTHFR gene polymorphism 677 and chromosomal aneuploidy in the Turner Syndrome patients. However, the MTHFR gene polymorphism at position 1298, mainly genotype 1298CC that reduces the enzyme efficiency, was more frequent in the group of Turner Syndrome patients, suggesting its involvement in mechanisms related to chromosomal imbalances.

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MTHFR Gene Polymorphism Is Associated With DNA Hypomethylation and Genetic Damage Among Benzene-Exposed Workers in Southeast China

Journal of Occupational and Environmental Medicine ◽

10.1097/jom.0000000000001288 ◽

2018 ◽

Vol 60 (4) ◽

pp. e188-e192 ◽

Cited By ~ 4

Author(s):

Jing-chao Ren ◽

Yu-xia Wu ◽

Zhenzhen Wu ◽

Guang-hui Zhang ◽

Hongjian Wang ◽

...

Keyword(s):

Gene Polymorphism ◽

Mthfr Gene ◽

Genetic Damage ◽

Dna Hypomethylation ◽

Southeast China ◽

Mthfr Gene Polymorphism ◽

Exposed Workers

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Polymorphism of MTHFR gene (677 and 1298) in females with spontaneous abortions in Bihor County

Romanian Medical Journal ◽

10.37897/rmj.2015.2.19 ◽

2015 ◽

Vol 62 (2) ◽

pp. 195-199

Author(s):

Kinga Kozma ◽

◽

Claudia Jurca ◽

Marius Bembea ◽

◽

...

Keyword(s):

Spontaneous Abortion ◽

Protective Role ◽

Mthfr Gene ◽

Control Group ◽

Study Group ◽

Spontaneous Abortions ◽

Wild Type ◽

Genotype Combination ◽

Mthfr Gene Polymorphism ◽

History Of

Introduction. The MTHFR gene polymorphism is cited as a possible cause of spontaneous abortion. Aim. The genotype profile determination for the MTHFR (677 and 1298) gene and its correlations with spontaneous abortion in a female study group from Bihor County, Romania. Material and methods. This is a comparative research type conducted on a study group (SG) consisting of 46 female patients with a history of spontaneous abortions and a control group (CG) consisting of 50 females with no spontaneous abortions, no familial or personal history of thromboembolic events and who have had at least two previous live births. All women in both groups were genotyped for the MTHFR gene in positions 677 and 1298 by the Real-Time PCR method. Results. The proportion and the statistic significance of MTHFR 677/1298 genotype combinations found by us in the SG compared with the CG was, as follow: C677C/A1298A 2,17%, vs. 22% (p=0,01), C677T/A1298A 23,91%, vs. 20% (p=0,81), C677C/A1298C 21,73%, vs. 16% (p=0,61), C677C/C1298C 17,39%, vs. 4% (p=0,09), T677T/A1298A 13,04%, vs. 8% (p=0,51), C677T/A1298C 19,56%, vs. 28% (p=0,49), C677T/C1298C 2,17%, vs. 2% (p=1) and T677T/A1298C 0%, vs. 0% (p=1). Conclusion. The C677C/A1298A genotype combination (wild type/wild type) is in a significant higher percentage (p<0.05) in the control group compared to the study group, suggesting its protective role in producing spontaneous abortion. No other polymorphism of this gene has been statistically associated with spontaneous abortion.

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Detection of Methylene Tetrahydrofolate Reductase Gene Polymorphism (C677T) In Sudanese Patients with Chronic Myeloid Leukemia

Journal of Drug Delivery and Therapeutics ◽

10.22270/jddt.v9i6.3693 ◽

2019 ◽

Vol 9 (6) ◽

pp. 162-168

Author(s):

Negood Abdelhameed Osman ◽

Alsadig Gassoum ◽

Sanabel Alhussien Ahmed ◽

Nihad Elsadig Babiker

Keyword(s):

Chronic Myeloid Leukemia ◽

Gene Polymorphism ◽

Chronic Myeloid Leukaemia ◽

Myeloid Leukaemia ◽

Myeloid Leukemia ◽

White Blood Cells ◽

Mthfr Gene ◽

Control Group ◽

Rt Pcr ◽

Mthfr Gene Polymorphism

Chronic myeloid leukaemia (CML) is a kind of cancer that affects the white blood cells and resort to progress slowly through many years. It’s occur at any age, but is most common in older (60-65 years) of age. This is a cross sectional study aimed to detect MTHFR gene polymorphism (C677T) among Sudanese patients diagnosed with Chronic Myeloid Leukaemia and conducted at the research laboratory of the national center of neurological sciences (NCNS), Khartoum, Sudan.50 patients with Chronic Myeloid Leukemia (CML) diagnosed as BCR-ABL positive by RT-PCR used as a cases and 50 apparently healthy individuals as a control. A 5 ml of blood samples were collected in EDTA anticoagulant container for DNA Extraction and white blood cells count, hemoglobin level and platelets count. Genotyping of the MTHFR was carried out using PCR technique and the SNP (C677T) confirmed by sequencing a subset of samples. The results were analyzed using bioinformatics tools. The results showed; the most affected age group in the patients was 51-60 years followed by 41-50 years which constituted 32% and 30%, respectively. The hematological findings revealed that, the mean of TWBCs was 47.4, HB was 11.9 for patients, 7.2 and 14.1 respectively for control group (P = 0.000). PLT was 313.5 for patients and 287.5 for control group (P = 0.187). MTHFR gene was detected in the all patients (198pb) by the PCR, Sequence results were aligned with the reference sequence of MTHFR gene, the polymorphic C >T was found to be matched with the registered mutation in NCBI data base. This study provides the first evidence for associations of MTHFR gene polymorphism with the risk of chronic myeloid leukemia in Sudanese patients. The C >T genotype of the rs 677 polymorphism in MTHFR gene may have a promoting effect on chronic myeloid leukemia. Keywords: Chronic myeloid leukaemia (CML), DNA, PCR, RT-PCR, MTHFR

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Serum Homocysteine, Vitamin B12, Folic Acid Levels and Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphism in Vitiligo

Disease Markers ◽

10.1155/2012/540597 ◽

2012 ◽

Vol 33 (2) ◽

pp. 85-89 ◽

Cited By ~ 12

Author(s):

Ali Yasar ◽

Kamer Gunduz ◽

Ece Onur ◽

Mehmet Calkan

Keyword(s):

Folic Acid ◽

Gene Polymorphism ◽

Vitamin B12 ◽

Significant Relationship ◽

Gene Polymorphisms ◽

Serum Vitamin ◽

Mthfr Gene ◽

Enzyme Linked Immunosorbent Assay ◽

Control Group ◽

Mthfr Gene Polymorphism

The aim of this study was to determine serum vitamin B12, folic acid and homocysteine (Hcy) levels as well as MTHFR (C677, A1298C) gene polymorphisms in patients with vitiligo, and to compare the results with healthy controls. Forty patients with vitiligo and 40 age and sex matched healthy subjects were studied. Serum vitamin B12 and folate levels were determined by enzyme-linked immunosorbent assay. Plasma Hcy levels and MTHFR polymorphisms were determined by chemiluminescence and real time PCR methods, respectively. Mean serum vitamin B12 and Hcy levels were not significantly different while folic acid levels were significantly lower in the control group. There was no significant relationship between disease activity and vitamin B12, folic acid and homocystein levels. No significant difference in C677T gene polymorphism was detected. Heterozygote A1298C gene polymorphism in the patient group was statistically higher than the control group. There was no significant relationship between MTHFR gene polymorphisms and vitamin B12, folic acid and homocysteine levels. In conclusion, vitamin B12, folate and Hcy levels are not altered in vitiligo and MTHFR gene mutations (C677T and A1298C) do not seem to create susceptibility for vitiligo.

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Prevalence of the MTHFR C677T Mutation in Fertile and Infertile Women

Revista Brasileira de Ginecologia e Obstetrícia / RBGO Gynecology and Obstetrics ◽

10.1055/s-0037-1606289 ◽

2017 ◽

Vol 39 (12) ◽

pp. 659-662 ◽

Cited By ~ 3

Author(s):

Adriana Soligo ◽

Ricardo Barini ◽

Joyce Annichino-Bizzacchi

Keyword(s):

Methylenetetrahydrofolate Reductase ◽

Mthfr C677t ◽

Mthfr Gene ◽

Control Group ◽

Case Group ◽

Infertile Women ◽

Chi Squared ◽

History Of ◽

C677t Mutation ◽

Fertile Women

Introduction The importance of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in infertile women remains controversial. Objective To evaluate if the MTHFR C677T mutations are more frequent in infertile women, and if they can be associated with the occurrence of infertility in the Brazilian population. Methods This case-control study included 130 infertile women consulting at a private clinic between March 2003 and March 2005 (data previously published), and 260 fertile women attending the family planning outpatient clinic of our institution between April 2012 and March 2013. Data analysis The Chi-squared and Fisher Exact tests were used to evaluate the association between the presence of the MTHFR C677T mutation and a history of infertility. Results The frequency of the mutation was of 58.5% for the case group (n = 76) and of 49.2% for the fertile controls (n = 128). The mutation was homozygous in 13 women in the case group (10%) and in 23 of the fertile women in the control group (8.8%). These differences were not statistically significant. Conclusions These results suggest that the presence of the MTHFR C677T mutation does not constitute a risk factor for infertility, even when the mutation is homozygous. Further studies are needed to confirm whether research on this mutation should be considered unnecessary in women with infertility.

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Association of MTHFR (C677T) Gene Polymorphism with Breast Cancer in North India

Biomarkers in Cancer ◽

10.4137/bic.s40446 ◽

2016 ◽

Vol 8 ◽

pp. BIC.S40446 ◽

Cited By ~ 9

Author(s):

Mohammad Waseem ◽

Syed Rizwan Hussain ◽

Shashank Kumar ◽

Mohammad Serajuddin ◽

Farzana Mahdi ◽

...

Keyword(s):

Breast Cancer ◽

Gene Polymorphism ◽

Mthfr C677t ◽

North India ◽

Healthy Control Group ◽

Control Group ◽

Indian Women ◽

Genotype Frequencies ◽

Mthfr Gene Polymorphism ◽

Healthy Control

Background Breast cancer is one of the most common malignancies in women and is associated with a variety of risk factors. The functional single-nucleotide polymorphism (SNP) C677T in the gene encoding 5,10-methylenetetrahydrofolate reductase (MTHFR) may lead to decreased enzyme activity and affect the chemosensitivity of tumor cells. This study was designed to investigate the association of MTHFR gene polymorphism (SNP) in the pathogenesis of breast cancer among the North Indian women population. Materials and Methods Genotyping was performed by polymerase chain reaction (PCR) using genomic DNA, extracted from the peripheral blood of subjects with (275 cases) or without (275 controls) breast cancer. Restriction fragment length polymorphism was used to study C677T polymorphism in the study groups. Results The distribution of MTHFR (C677T) genotype frequencies, ie, CC, TT, and CT, among the patients was 64.7%, 2.18%, and 33.09%, respectively. In the healthy control group, the CC, TT, and CT frequencies were 78.91%, 1.09%, and 20.1%, respectively. The frequencies of C and T alleles were 81.2% and 18.7%, respectively, in the patient subjects, while they were 88.9% and 11.09%, respectively, among the healthy control group. Frequencies of the CT genotype and the T allele were significantly different ( P = 0.007 and P = 0.005, respectively) between the control and the case subjects. Conclusion This study shows an association of the CT genotype and the T allele of the MTHFR (C667T) gene with increased genetic risk for breast cancer among Indian women.

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MTHFR Gene Polymorphism and Diabetic Retinopathy

Current Diabetes Reviews ◽

10.2174/1573399810602040467 ◽

2006 ◽

Vol 2 (4) ◽

pp. 467-476 ◽

Cited By ~ 11

Author(s):

Bentham Science Publisher Bentham Science Publisher

Keyword(s):

Diabetic Retinopathy ◽

Gene Polymorphism ◽

Mthfr Gene ◽

Mthfr Gene Polymorphism

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MTHFR Gene Polymorphism and Age of Onset of Schizophrenia and Bipolar Disorder

BioMed Research International ◽

10.1155/2014/318483 ◽

2014 ◽

Vol 2014 ◽

pp. 1-9 ◽

Cited By ~ 12

Author(s):

Mohamed A. El-Hadidy ◽

Hanaa M. Abdeen ◽

Sherin M. Abd El-Aziz ◽

Mohammad Al-Harrass

Keyword(s):

Bipolar Disorder ◽

Healthy Subjects ◽

Methylenetetrahydrofolate Reductase ◽

Age Of Onset ◽

Age At Onset ◽

Mthfr C677t ◽

Control Group ◽

C677t Polymorphism ◽

Mthfr C677t Polymorphism ◽

Mthfr Gene Polymorphism

Objective. Several studies with contradictory results from different cultures about association of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in schizophrenia and bipolar disorders. Little is known about this association in Arab culture and Egypt. So the present study aimed to assess the association of MTHFR C677T polymorphism in bipolar disorder (BD) and schizophrenia in comparison to control group. The association between MTHFR C677T polymorphism and the age at onset in schizophrenia or BD was also studied.Methods. Polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) were used to examine the genotype and allele frequencies of MTHFR C677T polymorphism in 149 healthy subjects and 134 bipolar and 103 schizophrenia patients.Results. In BD and schizophrenia, there was a higher prevalence of MTHFR C677T polymorphism than healthy subjects. Earlier age at onset was found in patients with BD, carrying one copy of the T allele or CT genotypes but not in patients with schizophrenia.Conclusion. The present findings suggest that the MTHFR C677T polymorphisms are likely to be associated with the risk of developing BD and schizophrenia and influence the age at onset of BD but not the age at onset of schizophrenia.

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