LongevityMap Gene

Gene details

HGNC symbol: MTHFR
Aliases
Common name: methylenetetrahydrofolate reductase
Description: The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]
Cytogenetic Location: 1p36.22
UCSC Genome Browser: View 1p36.22 on the UCSC genome browser
OMIM: 607093
Ensembl: ENSG00000177000
UniProt/Swiss-Prot: MTHR_HUMAN
Entrez Gene: 4524
UniGene: 214142
1000 Genomes: 1000 Genomes

Homologs in model organisms

Caenorhabditis elegans: mthf-1
Danio rerio: mthfr
Drosophila melanogaster: CG7560
Mus musculus: Mthfr
Rattus norvegicus: Mthfr
Saccharomyces cerevisiae: MET13
Schizosaccharomyces pombe: met9

Studies (8)

Significant/Non-significant: 0/8

Study 1

Longevity Association

Non-significant

Population

English (Cambridge)

Study Design

The 677C/T SNP was examined in 182 women and 100 men aged > 84 years and in 100 boys and 100 girls younger than 17 years

Conclusions

MTHFR allele and genotype frequencies were similar in the elderly and young populations

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Reference

Study 2

Longevity Association

Non-significant

Population

Study Design

A/V114 SNP was examined in 187 unselected centenarians, and 201 healthy controls aged 20-64 years (mean age 42 years)

Conclusions

No significant association with longevity was found

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Reference

Study 3

Longevity Association

Non-significant

Population

Study Design

C677T SNP was examined in healthy subjects (n=118; age<65), older healthy subjects (n=106; age>65), patients with coronary artery disease (n=75), and patients with peripheral arterial occlusive disease (n=63)

Conclusions

No difference in either genotype distribution or allele frequencies between patients and controls was found

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Reference

Study 4

Longevity Association

Non-significant

Population

American (Caucasian)

Study Design

C677T SNP was examined in 2689 healthy Caucasians aged 17-39 years (n = 979; 505 males and 474 females), 40-59 years (n = 900; 526 males and 374 females), and 60-85 years (n = 810; 530 males and 280 females)

Conclusions

No statistically significant decrease in genotype or allele frequency was observed among carriers of 677T

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Reference

Study 5

Longevity Association

Non-significant

Population

Study Design

A/V codon 114 SNP was examined in 187 centenarians (47 males and 140 females) and 201 controls (20-64 years)

Conclusions

No significant association with longevity was found

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Reference

Study 6

Longevity Association

Non-significant

Population

Ashkenazi Jewish (Jerusalem)

Study Design

C677T SNP was examined in 224 older (75 years) Jewish Jerusalem residents of Ashkenazi ethnicity (150 males and 74 females) and a group of 441 younger subjects (22 years)

Conclusions

There was an increase in C allele frequency (67.4% versus 55.3%) in the older Ashkenazi females and an increase in the percentage of CC homozygotes, though this was not significant after correcting for multiple testing

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Study 7

Longevity Association

Non-significant

Population

Study Design

Polymorphisms were genotyped in 130 elderly subjects (57 females, mean age: 90.01 years) and 135 young control subjects (67 females, mean age: 33.43 years) for longevity association

Conclusions

No significant differences were found in the genotype and allele frequencies of examined SOD2 and MTHFR gene variants between the elderly group and young controls (P > 0.05), nor when each gender was considered separately (P > 0.05). SOD2 -9T/C and MTHFR 677C/T were not associated with longevity in the Jordanian population.

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Reference

Study 8

Longevity Association: Non-significant
Population: Danish, German, Dutch
Study Design: 102 SNPs from 16 longevity candidate genes were examined in Danish. 1089 individuals (ages 92.2-93.8, mean age 93.2, 71.3 female) and 736 middle-aged controls (46-55 y, mean age 50.6, 49.6% female) were involved in this case-control study. Then the results were replicated in a German cohort of 1613 individuals (95-110 y, 73.2% female) and 1104 middle-aged controls (mean age 67.2, SD 4.07, 74.3% female). A 11 years study was introduced in Danish cohort to identify the SNPs associated with longevity, then the results were verified in Dutch longitudinal cohort.
Conclusions: After correcting for multiple testing, no SNPs were significantly associated with longevity, except in APOE and CETP. rs4343 (ACE) was nominally significantly associated with longevity (P < 0.05).
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