LongevityMap Gene

Gene details

HGNC symbol
KL 
Aliases
 
Common name
klotho 
Description
This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008]
Cytogenetic Location
13q13.1
UCSC Genome Browser
View 13q13.1 on the UCSC genome browser
OMIM
604824
Ensembl
ENSG00000133116
UniProt/Swiss-Prot
KLOT_HUMAN
Entrez Gene
9365
UniGene
524953
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
kl
Mus musculus
Kl
Rattus norvegicus
Kl

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Kl
GenAge human genes
  • This gene is present as KL
CellAge
  • This gene is present as KL

Studies (5)

Significant/Non-significant: 4/1

Study 1

Longevity Association
Significant
Population
Italian
Study Design
A total of 1,089 (669 women and 420 men) unrelated individuals from 19 to 109 years, born and residing in northern and central Italy, were subdivided into three age classes, and genotyped for the KL-VS allele
Conclusions
Significant increase of the heterozygous Klotho genotype was found in the class of elderly people compared to young controls. However, no difference was present between centenarians and young controls.
Indentifier
KL-VS
Reference

    Study 2

    Longevity Association
    Significant
    Population
    Danish
    Study Design
    Alleles in candidate pathways (GH/IGF1 signaling, DNA damage signaling and repair and pro/antioxidants) were investigated for association with longevity in 1089 oldest-old (age 92-93) and 736 middle-aged Danes
    Conclusions
    Eleven SNPs (in GSR, KL, GHRHR, INS, GHSR, IGF2R, RAD52, WRN, RAD23B, POLB and NTLH1) were associated with longevity after correction for multiple hypothesis testing. No replications were observed in German and Dutch populations.
    Indentifier
    rs1207362
    Reference

      Study 3

      Longevity Association
      Significant
      Population
      Ashkenazi Jewish, Czechs (Bohemian)
      Study Design
      525 Ashkenazi Jews composed of 216 probands (age ≥95 years) and 309 unrelated individuals (ages 51 to 94) were genotyped for the functional variant of KLOTHO, termed KL-VS. 435 elderly individuals (≥75 years) were genotyped.
      Conclusions
      A common variant of KLOTHO, the KL-VS allele, was associated with human longevity. A heterozygous advantage for longevity was observed for individuals ≥79 years of age (P<0.004).
      Indentifier
      KL-VS
      Reference

        Study 4

        Longevity Association
        Significant
        Population
        Czechs (Bohemian), Americans (Baltimore Caucasians and African-Americans)
        Study Design
        Amino acid substitutions F352V and C370S SNPs were examined in 435 elderly individuals (>75 years) and 611 contemporary newborns (Bohemian Czech), 965 elderly individuals (>65 years) and 646 control infants (Baltimore Caucasians and Baltimore African-Americans)
        Conclusions
        Homozygous elderly individuals were underrepresented in all populations
        Indentifier
        F352V
        Reference

          Study 5

          Longevity Association
          Non-significant
          Population
          American (Caucasian)
          Study Design
          Genome-wide association study for longevity-related traits in up to 1345 Framingham Study participants from 330 families; 713 participants achieved age 65 years or greater. A total of 79 potential candidate genes and regions associated with longevity were also studied.
          Conclusions
          Although no genome-wide associations were significant, several SNPs in some previously associated genes with longevity had suggestive associations with age at death or morbidity-free survival at age 65 years. Noteworthy results included two SNPs within FOXO1A (rs10507486 and rs4943794) associated with age at death.
          Indentifier
          rs683907
          Reference