Presence of the functional CASPASE-12 allele in Indian subpopulations

Int J Immunogenet. 2012 Oct;39(5):389-93. doi: 10.1111/j.1744-313X.2012.01107.x. Epub 2012 Apr 4.

Abstract

Most humans lack a functional CASP12 gene, with the nonfunctional variant (CASP12p1), found in 100% of the Caucasian and east Asian population, and in approximately 80% of people of African descent. However, 20% of Africans carry an intact allele of CASP12, which produces a full-length pro-enzyme and increases the risk of sepsis. We examined CASP12 allele distribution in persons from central and southern Asia and found that CASP12 was significantly present in members of the Dravidian language group, particularly in persons from the Indian state of Tamil Nadu.

MeSH terms

  • Alleles*
  • Caspase 12 / genetics*
  • Ethnicity / genetics
  • Gene Frequency
  • Genetics, Population / methods*
  • Heterozygote
  • Homozygote
  • Humans
  • India
  • Odds Ratio
  • Polymorphism, Single Nucleotide
  • Prevalence
  • Sepsis / genetics

Substances

  • CASP12 protein, human
  • Caspase 12