LongevityMap variant
- 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.
- 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
- Caenorhabditis elegans
- cht-1
- Drosophila melanogaster
- Cht7
- Mus musculus
- Chit1
- Rattus norvegicus
- Chit1
- Saccharomyces cerevisiae
- CTS2
Malaguarnera et al. (2010)
Other variants which are also part of this study
