LongevityMap variant

Entry Details

Longevity Association
Significant
Population
Mediterranean (Italian, Greek and Tunisian)
Study Design
The distribution of the CHIT-1 polymorphism genotype was compared in three different populations of the Mediterranean area (Italian, Greek and Tunisian) aged over 90 years. As a control group for each nonagenarian and centenarian, a 60-70-year-old subject was genotyped.
Conclusions
The heterozygote frequency for the 24-bp duplication in the CHIT-1 gene was significantly different between oldest old subjects and control subjects, being highest among the oldest old subjects and lowest among control groups. In the oldest old group, no subject was observed to be homozygous for CHIT-1 deficiency.
Identifier
CHIT1
Cytogenetic Location
1q32.1
UCSC Genome Browser
View 1q32.1 on the UCSC genome browser

Gene details

HGNC symbol
CHIT1
Aliases
CHI3; CHIT; CHITD 
Common name
chitinase 1 
Description
Chitotriosidase is secreted by activated human macrophages and is markedly elevated in plasma of Gaucher disease patients. The expression of chitotriosidase occurs only at a late stage of differentiation of monocytes to activated macrophages in culture. Human macrophages can synthesize a functional chitotriosidase, a highly conserved enzyme with a strongly regulated expression. This enzyme may play a role in the degradation of chitin-containing pathogens. Several alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2012]
OMIM
600031
Ensembl
ENSG00000133063
UniProt/Swiss-Prot
CHIT1_HUMAN
Entrez Gene
1118
UniGene
201688
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Chit1
Rattus norvegicus
Chit1

References

Malaguarnera et al. (2010)

Other variants which are also part of this study