LongevityMap variant

Entry Details

Longevity Association: Non-significant
Population: Italian (Southern)
Study Design: A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
Conclusions: After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.

HGNC symbol: ERCC2
Aliases: EM9; TTD; XPD; TTD1; COFS2; TFIIH
Common name: ERCC excision repair 2, TFIIH core complex helicase subunit
Description: The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Other longevity studies of this gene: 17
OMIM: 126340
Ensembl: ENSG00000104884
UniProt/Swiss-Prot: ERCC2_HUMAN
Entrez Gene: 2068
UniGene: 487294
HapMap: View on HapMap

GenAge model organism genes

GenAge human genes

Di Cianni et al. (2013)