LongevityMap variant group
Entry Details
- Longevity Association
- Non-significant
- Population
- Italian (Sicily)
- Study Design
- Three FMF-associated mutations were examined in 121 acute myocardial infarction (AMI) patients (20-46 years, 10 female), in 68 centenarians (>99 years, 38 female), and in 196 age-matched controls (20-50 years, 117 female)
- Conclusions
- The only detected mutation M694V (A2080G) was less frequent in centenarians. The heterozygous genotype was also significantly overexpressed in AMI patients and underexpressed in centenarians compared with young controls. Although the frequency of M694V proinflammatory genotype and allele in centenarians was lower this was not statistically significant. After adjustment for AMI risk factors, the results predicted M694V genotype was an independent risk factor to develop AMI. Conversely, the wild-type pyrin genotype may predispose to a greater chance to live longer under some conditions.
Variants (3)
1.
- Identifier
- rs28940577
- Cytogenetic Location
- 16p13.3
- UCSC Genome Browser
- View 16p13.3 on the UCSC genome browser
2.
- Identifier
- rs28940578
- Cytogenetic Location
- 16p13.3
- UCSC Genome Browser
- View 16p13.3 on the UCSC genome browser
3.
- Identifier
- rs28940479
- Cytogenetic Location
- 16p13.3
- UCSC Genome Browser
- View 16p13.3 on the UCSC genome browser
Gene details
- HGNC symbol
- MEFV
- Aliases
- FMF; MEF; TRIM20
- Common name
- MEFV, pyrin innate immunity regulator
- Description
- This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 3
- OMIM
- 608107
- Ensembl
- ENSG00000103313
- UniProt/Swiss-Prot
- D2DTW2_HUMAN
- Entrez Gene
- 4210
- UniGene
- 632221
- HapMap
- View on HapMap