Ethnic divergence and linkage disequilibrium of novel SNPs in the human NLI-IF gene: evidence of human origin and lack of association with tuberculosis susceptibility

J Hum Genet. 2002;47(3):140-5. doi: 10.1007/s100380200016.

Abstract

Sequence variation in the human genome has been used as a tool in studying human diseases and the evolutionary history of man. A human inherited predisposition to tuberculosis has been suggested and studied; however. genetic mechanisms are still ambiguous. In the present study, we scanned the regulatory and coding region of Nuclear LIM Interactor-Interacting Factor gene (NLI-IF), which is physically close to the tuberculosis-associated gene NRAMP1. Thirteen biallelic single-nucleotide polymorphisms (SNPs) were identified from four ethnic populations (African-American, Caucasian, Hispanic, and Asian) with population-specific distribution of alleles. The extent of linkage disequilibrium (LD) between 402T > C, and 472-42G > A varied distinctly from complete LD in the non-African-American groups to strong but incomplete LD in African-Americans. Both SNPs were in significant LD with the polymorphism 3' UTR in NRAMP1 among these ethnic groups (P < 0.02), except 402T > C in African-Americans. In a case-control study with a Caucasian population, three cosmopolitan SNPs (204C > A, 402T > C and 472 - 42G > A) in NLI-IF showed no significant association with human susceptibility to tuberculosis. Our results support the "out-of-Africa" model of human origin, and suggest the time for the common ancestor dispersing from Africa could not have been more than approximately 385,620 years ago.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Black People / genetics
  • Case-Control Studies
  • Ethnicity / genetics
  • Female
  • Genetic Predisposition to Disease
  • Hispanic or Latino / genetics
  • Humans
  • Linkage Disequilibrium*
  • Male
  • Middle Aged
  • Nuclear Proteins / genetics*
  • Phosphoprotein Phosphatases
  • Polymorphism, Single Nucleotide*
  • Texas
  • Tuberculosis / ethnology
  • Tuberculosis / genetics*
  • White People / genetics

Substances

  • Nuclear Proteins
  • CTDSP1 protein, human
  • Phosphoprotein Phosphatases