LongevityMap variant group

Entry Details

Longevity Association
Non-significant
Population
American (Caucasian and African-American)
Study Design
The baseline levels of sCD14 (soluble form of CD14) were measured in 5888 European-American and black adults aged 65 years and older from the Cardiovascular Health Study. A genome-wide cardiovascular disease candidate gene-centric association with sCD14 was conducted separately in the European-Americans (n=2952) and blacks (n=528). Finally, the ability of sCD14 and its main genetic determinants to predict incident CVD and mortality during follow-up was assessed.
Conclusions
sCD14 was positively correlated with cardio-metabolic risk factors and with subclinical measures of vascular disease, and was also inversely correlated with body mass index (all P<0.001). In European Americans the minor allele at the index SNP rs5744441 was associated with lower sCD14, the C allele of index SNP rs1063412 was associated with lower sCD14. In Blacks the index SNP rs778584 was associated with higher sCD14. In the fully adjusted model, sCD14 was associated with death because of cardiovascular causes (hazard ratio=1.13, P=0.001) and death because of noncardiovascular causes (hazard ratio=1.11, P=0.001). CD14 independently predicts risk mortality in older adults. However, no SNPs were associated with risk of mortality when corrected for multiple hypothesis testing.

Variants (10)

CD14

1.
Identifier
rs4914
Cytogenetic Location
5q31.3
UCSC Genome Browser
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2.
Identifier
rs5744455
Cytogenetic Location
5q31.3
UCSC Genome Browser
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3.
Identifier
rs5744451
Cytogenetic Location
5q31.3
UCSC Genome Browser
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4.
Identifier
rs2569191
Cytogenetic Location
5q31.3
UCSC Genome Browser
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5.
Identifier
rs2569190
In Other Studies (IDs)
2548
Cytogenetic Location
5q31.3
UCSC Genome Browser
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Gene details

HGNC symbol
CD14
Aliases
 
Common name
CD14 molecule 
Description
The protein encoded by this gene is a surface antigen that is preferentially expressed on monocytes/macrophages. It cooperates with other proteins to mediate the innate immune response to bacterial lipopolysaccharide. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Mar 2010]
Other longevity studies of this gene
5
OMIM
158120
Ensembl
ENSG00000170458
UniProt/Swiss-Prot
CD14_HUMAN
Entrez Gene
929
UniGene
163867
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Cd14
Rattus norvegicus
Cd14

DNM3

1.
Identifier
rs1011731
Cytogenetic Location
1q24.3
UCSC Genome Browser
View 1q24.3 on the UCSC genome browser

Gene details

HGNC symbol
DNM3
Aliases
Dyna; III 
Common name
dynamin 3 
Description
This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the development of megakaryocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
OMIM
611445
Ensembl
ENSG00000197959
UniProt/Swiss-Prot
DYN3_HUMAN
Entrez Gene
26052
UniGene
654775
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
dyn-1
Drosophila melanogaster
shi
Mus musculus
Dnm3
Rattus norvegicus
Dnm3

PIGC

1.
Identifier
rs1063412
Cytogenetic Location
1q24.3
UCSC Genome Browser
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Gene details

HGNC symbol
PIGC
Aliases
GPI2 
Common name
phosphatidylinositol glycan anchor biosynthesis class C 
Description
This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. [provided by RefSeq, Jul 2008]
OMIM
601730
Ensembl
ENSG00000135845
UniProt/Swiss-Prot
PIGC_HUMAN
Entrez Gene
5279
UniGene
188456
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
CELE_T20D3.8
Danio rerio
pigc
Drosophila melanogaster
CG12077
Mus musculus
Pigc
Rattus norvegicus
Pigc
Saccharomyces cerevisiae
GPI2
Schizosaccharomyces pombe
gpi2

TMCO6

1.
Identifier
rs778584
Cytogenetic Location
5q31.3
UCSC Genome Browser
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2.
Identifier
rs5744441
Cytogenetic Location
5q31.3
UCSC Genome Browser
View 5q31.3 on the UCSC genome browser
3.
Identifier
rs5744430
Cytogenetic Location
5q31.3
UCSC Genome Browser
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Gene details

HGNC symbol
TMCO6
Aliases
PRO1580 
Common name
transmembrane and coiled-coil domains 6 
Description
Other longevity studies of this gene
2
OMIM
Ensembl
ENSG00000113119
UniProt/Swiss-Prot
A8K0D0_HUMAN
Entrez Gene
55374
UniGene
534333
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
zgc:162240
Mus musculus
Tmco6
Rattus norvegicus
Tmco6

References

Reiner et al. (2013)

Other variants which are also part of this study