Work

Population distribution of the functional caspase-12 allele

Year: 2006

Type: article

Abstract: Members of the caspase family can be important for apoptosis or inflammation, but the role of caspase-12 (CASP12 or CSP12) is unclear. Although most humans lack a functional caspase-12, the Csp 12-L variant, previously found only among people of African descent, produces a full-length proenzyme and increases the risk of sepsis. In this study, Csp 12-L allele frequency ranged from 3.6% to 60.7% among populations from sub-Saharan Africa and was also present at low frequency among North African, Middle Eastern, and South Asian populations.

Source: Human Mutation

DOI: 10.1002/humu.9448

Authors: Kritika Kachapati, Thomas R. O'Brien, Julie Bergeron, Mingdong Zhang, Michael Dean

Institutions: National Institutes of Health, National Cancer Institute, Center for Cancer Research, Division of Cancer Epidemiology and Genetics, Science Applications International Corporation (United States)

Language: English

Topic: Inflammasome and immune disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: U.S. Department of Health and Human Services, National Institutes of Health, National Cancer Institute