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Population distribution of the functional caspase‐12 allele
Author(s) -
Kachapati Kritika,
O'Brien Thomas R.,
Bergeron Julie,
Zhang Mingdong,
Dean Michael
Publication year - 2006
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9448
Subject(s) - biology , allele , genetics , distribution (mathematics) , population , allele frequency , computational biology , gene , demography , sociology , mathematical analysis , mathematics
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. Published 2006 Wiley‐Liss, Inc.