LongevityMap Gene
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]
- Cytogenetic Location
- 1q22
- UCSC Genome Browser
- View 1q22 on the UCSC genome browser
- OMIM
- 150330
- Ensembl
- ENSG00000160789
- UniProt/Swiss-Prot
- LMNA_HUMAN
- Entrez Gene
- 4000
- UniGene
- 594444
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- lmn-1
- Danio rerio
- lmna
- Drosophila melanogaster
- LamC
- Drosophila melanogaster
- Lam
- Mus musculus
- Lmna
- Rattus norvegicus
- Lmna
In other databases
- GenAge model organism genes
- GenAge human genes
- This gene is present as LMNA
Studies (3)
Significant/Non-significant: 2/1
Study 1
- 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)
- Indentifier
- rs915179
- Reference
Study 2
- 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.
- Indentifier
- rs11578696
- Reference
Study 3
- Longevity Association
- Significant
- Population
- American (Caucasian)
- Study Design
- Genome-wide association study in 801 centenarians and 914 healthy controls
- Conclusions
- 281 SNPs were found to discriminate between cases and controls
- Indentifier
- rs915179
- Reference