Polymorphism: Ile119Val
Location: 6q24-q25
Factor:
- Symbol: PCMT1
- Name: protein-L-isoaspartate (D-aspartate) O-methyltransferase
- Entrez ID: 5110
- Ensembl ID: ENSG00000120265
Factors:
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
(
5110
/
ENSG00000120265
)
Description:
The paper only reports a "heterozygote advantage," meaning that "selection for having both forms of the gene may occur for individuals that have successfully 'aged'." We could conclude then that having an Ile119/Ile119 or Val119/Val119 genotype will make you shorter-lived, but a shorter-lived allele cannot be determined
Ethnicity:
Ashkenazi Jewish
Age of cases: Mean age 87.2
Statistics
- Number of cases/controls: 40 vs 40 (initial)
- p-value:
0.049
[0.049]
- Significant: Yes
Study Design
- Classifications:
Longevity-Associated
- Study type: Candidate Region/Gene
- Technology: SCCP, GIBCO BRL, autoradiography, ABI Fluorescent Sequencing System, others
Reference:
10496068: Polymorphic forms of the protein L-isoaspartate (D-aspartate) O-methyltransferase involved in the repair of age-damaged proteins.
Choice: Curate
Created: July 1, 2013, 1:03 p.m.
Updated: Aug. 8, 2014, 1:06 p.m.
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