Polymorphism: Lys751Gln


Location: 19q13.3

Factor:
- Symbol: ERCC2
- Name: excision repair cross-complementing rodent repair deficiency, complementation group 2
- Entrez ID: 2068
- Ensembl ID: ENSG00000104884

Factors:
  • ERCC2 excision repair cross-complementing rodent repair deficiency, complementation group 2 ( 2068 / ENSG00000104884 )

  • Ethnicity: Polish
    Age of cases: Mean age 101.1
    Shorter lived allele: homozygous (Lys/Lys, Gln/Gln)
    Longer lived allele: heterozygous (Lys/Gln)

    Statistics
    - Number of cases/controls: 149 vs 413 (initial)
    - p-value: 0.017 [0.017]
    - Significant: Yes

    Study Design
    - Classifications: Longevity-Associated
    - Study type: Candidate Region/Gene
    - Technology: sequence specific probes

    Reference:
    19707883: Decreased expression and the Lys751Gln polymorphism of the XPD gene are associated with extreme longevity.

    Choice: Curate
    Created: July 1, 2013, 1:04 p.m.
    Updated: Aug. 8, 2014, 1:06 p.m.

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