rs2297950

This is a variant in the CHIT1 gene that changes a glycine to an serine.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

chitotriosidase-1 measurement

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele T
OR 0.70
p 1.0e-24
N 466
Small GWAS
African American or Afro-Caribbean
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ClinVar annotation

Benign★★★☆
7 submitters3 publications

Chitotriosidase deficiency (CHITD)

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About CHIT1

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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