LongevityMap variant

Entry Details

Longevity Association
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 (P=7.5 × 10(-4), multiple-testing-adjusted P=0.037)
Identifier
rs915179
In Other Studies (IDs)
1457
Cytogenetic Location
1q22
UCSC Genome Browser
View 1q22 on the UCSC genome browser

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

References

Conneely et al. (2012)

Other variants which are also part of this study