Population distribution of the functional caspase-12 allele

Hum Mutat. 2006 Sep;27(9):975. doi: 10.1002/humu.9448.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Caspase 12
  • Caspases / genetics*
  • Caspases / metabolism
  • Caspases / physiology
  • Computational Biology
  • Enzyme Precursors / genetics*
  • Enzyme Precursors / metabolism
  • Enzyme Precursors / physiology
  • Gene Frequency*
  • Genetic Predisposition to Disease
  • Genetics, Population
  • Humans
  • Polymorphism, Single Nucleotide
  • Racial Groups / genetics*
  • Sepsis / genetics

Substances

  • Enzyme Precursors
  • CASP12 protein, human
  • Caspase 12
  • Caspases