title: Population distribution of the functional caspase-12 allele.
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.
authors.affiliation: Center for Cancer Research, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA.
authors.forename: Kritika
authors.initials: K
authors.lastname: Kachapati
authors.forename: Thomas R
authors.initials: TR
authors.lastname: O'Brien
authors.forename: Julie
authors.initials: J
authors.lastname: Bergeron
authors.forename: Mingdong
authors.initials: M
authors.lastname: Zhang
authors.forename: Michael
authors.initials: M
authors.lastname: Dean
mesh_terms: D053454:Caspase 12; D020169:Caspases / Q000235:genetics* / Q000378:metabolism / Q000502:physiology; D019295:Computational Biology; D004792:Enzyme Precursors / Q000235:genetics* / Q000378:metabolism / Q000502:physiology; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D044469:Racial Groups / Q000235:genetics*; D018805:Sepsis / Q000235:genetics
chemical_list: D004792:Enzyme Precursors; C506444:CASP12 protein, human; D053454:Caspase 12; D020169:Caspases