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
C06A8.1
Danio rerio
mthfr
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
Danish
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
Indentifier
114A/V
Reference

    Study 2

    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
    Indentifier
    677C/T
    Reference

      Study 3

      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
      Indentifier
      C677T
      Reference

        Study 4

        Longevity Association
        Non-significant
        Population
        Jordanian
        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.
        Indentifier
        677C/T
        Reference

          Study 5

          Longevity Association
          Non-significant
          Population
          Danish
          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
          Indentifier
          114A/V
          Reference

            Study 6

            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 (Pā€‰<ā€‰0.05).
            Indentifier
            rs11121832
            Reference

              Study 7

              Longevity Association
              Non-significant
              Population
              Swiss
              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
              Indentifier
              C677T
              Reference

                Study 8

                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
                Indentifier
                C677T
                Reference