TNF-alpha, IL1-beta, and immunoglobulin (GM and KM) gene polymorphisms in sarcoidosis

Hum Immunol. 2002 Jun;63(6):485-91. doi: 10.1016/s0198-8859(02)00399-3.


In order to determine whether TNF-alpha, IL1-beta, GM, and KM genes affect susceptibility to sarcoidosis, coded DNA samples from 278 Caucasian and 219 African-American patients and an equal number of matched controls were genotyped by polymerase chain reaction methods. All genotypes were in Hardy-Weinberg equilibrium. Genotype frequencies in sarcoidosis patients, as a whole, were not significantly different from that in controls. Additional analyses were performed to determine whether patients with and without erythema nodosum had different genetic components. In African-American patients without erythema nodosum, the distribution of KM genotypes was significantly different from that in controls: compared to controls, the frequency of KM1 homozygotes was increased in patients (6.5% versus 13.0%, p = 0.01; odds ratio = 2.56). As KM genes have been reported to be associated with immune responsiveness to several pathogens, these results may be relevant to the etiology of sarcoidosis.

Publication types

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

MeSH terms

  • African Continental Ancestry Group / genetics
  • Case-Control Studies
  • European Continental Ancestry Group / genetics
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Immunoglobulin Allotypes / genetics*
  • Immunoglobulin Gm Allotypes / genetics
  • Interleukin-1 / genetics*
  • Polymorphism, Genetic*
  • Sarcoidosis / complications
  • Sarcoidosis / genetics*
  • Sensitivity and Specificity
  • Tumor Necrosis Factor-alpha / genetics*


  • Immunoglobulin Allotypes
  • Immunoglobulin Gm Allotypes
  • Interleukin-1
  • Tumor Necrosis Factor-alpha