LongevityMap variant group

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)

Variants (4)

LMNA

1.
Identifier
rs915179
In Other Studies (IDs)
1457
Cytogenetic Location
1q22
UCSC Genome Browser
View 1q22 on the UCSC genome browser
2.
Identifier
rs2485662
Cytogenetic Location
1q22
UCSC Genome Browser
View 1q22 on the UCSC genome browser
3.
Identifier
rs4641
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

SEMA4A

1.
Identifier
rs1468772
Cytogenetic Location
1q22
UCSC Genome Browser
View 1q22 on the UCSC genome browser

Gene details

HGNC symbol
SEMA4A
Aliases
RP35; SEMB; SEMAB; CORD10 
Common name
semaphorin 4A 
Description
This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and immunomodulation. The encoded protein is a single-pass type I membrane protein containing an immunoglobulin-like C2-type domain, a PSI domain and a sema domain. It inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. It is an activator of T-cell-mediated immunity and suppresses vascular endothelial growth factor (VEGF)-mediated endothelial cell migration and proliferation in vitro and angiogenesis in vivo. Mutations in this gene are associated with retinal degenerative diseases including retinitis pigmentosa type 35 (RP35) and cone-rod dystrophy type 10 (CORD10). Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
OMIM
607292
Ensembl
ENSG00000196189
UniProt/Swiss-Prot
B4DKS5_HUMAN
Entrez Gene
64218
UniGene
408846
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Sema4a
Rattus norvegicus
Sema4a

References

Conneely et al. (2012)

Other variants which are also part of this study