LongevityMap variant group

Entry Details

Longevity Association
Non-significant
Population
American (Caucasians), Italian (Southern), French, Ashkenazi Jewish
Study Design
After 16 SNPs over LMNA gene were genotyped in 873 long-lived individuals and 443 controls for association with longevity, a haplotype was identified. Then, the result was tested in 3619 subjects from four independent samples (738 New England Centenarian Study samples, 905 Southern Italian Centenarian Study samples, 1103 France samples and 702 Einstein Ashkenazi Longevity Study).
Conclusions
A meta-analysis combining results from 5 sets of samples showed the haplotype based on 4 SNPs (rs915179, rs2485662, rs4641, rs1468772) from LMNA was significantly associated with longevity. Other SNPs were not associated with longevity.

Variants (12)

No gene

1.
Identifier
rs12063072
Cytogenetic Location
1q22
UCSC Genome Browser
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LMNA

1.
Identifier
rs11578696
Cytogenetic Location
1q22
UCSC Genome Browser
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2.
Identifier
rs4661146
Cytogenetic Location
1q22
UCSC Genome Browser
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3.
Identifier
rs10737170
Cytogenetic Location
1q22
UCSC Genome Browser
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4.
Identifier
rs547915
Cytogenetic Location
1q22
UCSC Genome Browser
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5.
Identifier
rs582690
Cytogenetic Location
1q22
UCSC Genome Browser
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6.
Identifier
rs6686943
Cytogenetic Location
1q22
UCSC Genome Browser
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7.
Identifier
rs508641
Cytogenetic Location
1q22
UCSC Genome Browser
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8.
Identifier
rs12117552
Cytogenetic Location
1q22
UCSC Genome Browser
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9.
Identifier
rs6669212
Cytogenetic Location
1q22
UCSC Genome Browser
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Gene details

HGNC symbol
LMNA
Aliases
FPL; IDC; LFP; CDDC; EMD2; FPLD; HGPS; LDP1; LMN1; LMNC; MADA; PRO1; CDCD1; CMD1A; FPLD2; LMNL1; CMT2B1; LGMD1B 
Common name
lamin A/C 
Description
The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]
Other longevity studies of this gene
12
OMIM
150330
Ensembl
ENSG00000160789
UniProt/Swiss-Prot
LMNA_HUMAN
Entrez Gene
4000
UniGene
594444
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
lmn-1
Danio rerio
lmna
Drosophila melanogaster
LamC
Mus musculus
Lmna
Rattus norvegicus
Lmna

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as lmn-1
  • A homolog of this gene for Mus musculus is present as Lmna
GenAge human genes
  • This gene is present as LMNA

MEX3A

1.
Identifier
rs3814314
Cytogenetic Location
1q22
UCSC Genome Browser
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Gene details

HGNC symbol
MEX3A
Aliases
RKHD4; MEX-3A 
Common name
mex-3 RNA binding family member A 
Description
OMIM
611007
Ensembl
ENSG00000254726
UniProt/Swiss-Prot
MEX3A_HUMAN
Entrez Gene
92312
UniGene
591496
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
CABZ01027547.1
Mus musculus
Mex3a
Rattus norvegicus
Mex3a

RAB25

1.
Identifier
rs2275075
Cytogenetic Location
1q22
UCSC Genome Browser
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Gene details

HGNC symbol
RAB25
Aliases
CATX-8; RAB11C 
Common name
RAB25, member RAS oncogene family 
Description
The protein encoded by this gene is a member of the RAS superfamily of small GTPases. The encoded protein is involved in membrane trafficking and cell survival. This gene has been found to be a tumor suppressor and an oncogene, depending on the context. Two variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Nov 2015]
OMIM
612942
Ensembl
ENSG00000132698
UniProt/Swiss-Prot
RAB25_HUMAN
Entrez Gene
57111
UniGene
632469
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
rab25a
Mus musculus
Rab25
Rattus norvegicus
Rab25

References

Conneely et al. (2012)

Other variants which are also part of this study