LongevityMap variant
- 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
- NBN
- Aliases
- ATV; NBS; P95; NBS1; AT-V1; AT-V2
- Common name
- nibrin
- Description
- Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 13
- OMIM
- 602667
- Ensembl
- ENSG00000104320
- UniProt/Swiss-Prot
- A0A0C4DG07_HUMAN
- Entrez Gene
- 4683
- UniGene
- 492208
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- nbn
- Drosophila melanogaster
- nbs
- Mus musculus
- Nbn
- Rattus norvegicus
- Nbn
- GenAge human genes
- This gene is present as NBN
- CellAge
- This gene is present as NBN
Di Cianni et al. (2013)
Other variants which are also part of this study
