LongevityMap variant group

Entry Details

Longevity Association
Significant
Population
German
Study Design
16 known FOXO3A SNPs were examined in 1,762 German centenarians/nonagenarians and younger controls
Conclusions
Polymorphisms in FOXO3A were associated with longevity. The FOXO3A association was considerably stronger in centenarians than in nonagenarians, highlighting the importance of centenarians for genetic longevity research. Replication in 535 French centenarians (mean age: 103.8 years) and 553 younger controls (aged 18–70 years) generated a trend that supported the results, although it was not statistically significant.

Variants (16)

No gene

1.
Identifier
rs1571631
Cytogenetic Location
6q21
UCSC Genome Browser
View 6q21 on the UCSC genome browser
2.
Identifier
rs6911407
Cytogenetic Location
6q21
UCSC Genome Browser
View 6q21 on the UCSC genome browser
3.
Identifier
rs768023
Cytogenetic Location
6q21
UCSC Genome Browser
View 6q21 on the UCSC genome browser
4.
Identifier
rs1268170
Cytogenetic Location
6q21
UCSC Genome Browser
View 6q21 on the UCSC genome browser
5.
Identifier
rs473268
Cytogenetic Location
6q21
UCSC Genome Browser
View 6q21 on the UCSC genome browser
6.
Identifier
rs479744
In Other Studies (IDs)
1992
Cytogenetic Location
6q21
UCSC Genome Browser
View 6q21 on the UCSC genome browser
7.
Identifier
rs519007
Cytogenetic Location
6q21
UCSC Genome Browser
View 6q21 on the UCSC genome browser

AFG1L

1.
Identifier
rs2274776
Cytogenetic Location
6q21
UCSC Genome Browser
View 6q21 on the UCSC genome browser

Gene details

HGNC symbol
AFG1L
Aliases
AFG1; LACE1; c222389 
Common name
AFG1 like ATPase 
Description
This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV subunits. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]
OMIM
Ensembl
ENSG00000135537
UniProt/Swiss-Prot
LACE1_HUMAN
Entrez Gene
246269
UniGene
259666
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
C30F12.2
Danio rerio
lace1a
Drosophila melanogaster
CG8520
Mus musculus
Lace1
Rattus norvegicus
Lace1
Saccharomyces cerevisiae
AFG1
Schizosaccharomyces pombe
SPBC115.02c

FOXO3

1.
Identifier
rs2802288
In Other Studies (IDs)
467 919 2244
Cytogenetic Location
6q21
UCSC Genome Browser
View 6q21 on the UCSC genome browser
2.
Identifier
rs2883881
Cytogenetic Location
6q21
UCSC Genome Browser
View 6q21 on the UCSC genome browser
3.
Identifier
rs12200646
Cytogenetic Location
6q21
UCSC Genome Browser
View 6q21 on the UCSC genome browser
4.
Identifier
rs2802290
Cytogenetic Location
6q21
UCSC Genome Browser
View 6q21 on the UCSC genome browser
5.
Identifier
rs13220810
In Other Studies (IDs)
935 2002
Cytogenetic Location
6q21
UCSC Genome Browser
View 6q21 on the UCSC genome browser
6.
Identifier
rs7762395
In Other Studies (IDs)
2006
Cytogenetic Location
6q21
UCSC Genome Browser
View 6q21 on the UCSC genome browser
7.
Identifier
rs9400239
In Other Studies (IDs)
1994
Cytogenetic Location
6q21
UCSC Genome Browser
View 6q21 on the UCSC genome browser
8.
Identifier
rs3800231
In Other Studies (IDs)
2030
Cytogenetic Location
6q21
UCSC Genome Browser
View 6q21 on the UCSC genome browser

Gene details

HGNC symbol
FOXO3
Aliases
FOXO2; AF6q21; FKHRL1; FOXO3A; FKHRL1P2 
Common name
forkhead box O3 
Description
This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
101
OMIM
602681
Ensembl
ENSG00000118689
UniProt/Swiss-Prot
FOXO3_HUMAN
Entrez Gene
2309
UniGene
220950
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
foxo3a
Mus musculus
Foxo3
Rattus norvegicus
Foxo3

In other databases

GenAge human genes
  • This gene is present as FOXO3
GenDR gene manipulations
  • A homolog of this gene for Mus musculus is present as Foxo3
CellAge
  • This gene is present as FOXO3

References

Flachsbart et al. (2009)

Other variants which are also part of this study