LongevityMap variant

Entry Details

Longevity Association
Significant
Population
American (Caucasian)
Study Design
Genome-wide association study using 1,471 genotyped participants from the Framingham Heart Study, of which 1,173 individuals had known lifespans, plus 517 individuals from the Offspring cohort for validating connections between longevity and genetic variants
Conclusions
A total of 27 SNPs, including in CDH4, SVEP1, CACNA1C, CARS, STK24, C7orf50, PARVG, NCAM2, PPP2R2C, NLRC5, BTBD9, RAC2, TGFA, KIAA0649, ABCC4, CLSTN2, FAM19A5 and RUNX3, were identified at the intersection of various statistical procedures
Identifier
rs3800358
Cytogenetic Location
6p21.2
UCSC Genome Browser
View 6p21.2 on the UCSC genome browser

Gene details

HGNC symbol
BTBD9
Aliases
dJ322I12.1 
Common name
BTB domain containing 9 
Description
This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]
OMIM
611237
Ensembl
ENSG00000183826
UniProt/Swiss-Prot
BTBD9_HUMAN
Entrez Gene
114781
UniGene
603858
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
hpo-9
Danio rerio
btbd9
Drosophila melanogaster
BTBD9
Mus musculus
Btbd9
Rattus norvegicus
Btbd9

References

Yashin et al. (2012)

Other variants which are also part of this study