title: Lack of an association between interleukin-12 receptor beta1 polymorphisms and tuberculosis in Koreans.
abstract: BACKGROUND
  The fact that only 10% of people infected with Mycobacterium tuberculosis develop clinical tuberculosis (TB) suggests the presence of genetic factors in the pathogenesis of TB. To date, a number of single nucleotide polymorphisms (SNPs) in several candidate genes have been proposed as genetic risk factors of TB; however, reports are conflicting.
  
  
  OBJECTIVE
  We investigated whether SNPs in the interleukin (IL)-12 receptor beta1 gene are associated with TB in Koreans.
  
  
  METHODS
  One hundred and fifteen patients with bacteriologically or pathologically confirmed TB and 151 healthy anonymous blood donors were enrolled. The genotypes of 5 SNPs on IL-12 receptor beta1 gene, +705A/G (Q214R), +1158T/C (M365T), +1196G/C (G378R), +1637G/A (A525T) and +1664 C/T (P534S), were determined by PCR-RFLP.
  
  
  RESULTS
  No difference was observed between TB patients and controls in terms of the genotype frequencies of the 5 SNPs of the IL-12 receptor beta1 gene or of their haplotypes.
  
  
  CONCLUSIONS
  In view of the finding that these SNPs have been reported to be associated with TB in the Japanese and Moroccan populations, our results may reflect racial differences in genetic susceptibility to TB.
authors.affiliation: Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine and Lung Institute of Medical Research Center, Seoul National University College of Medicine, Seoul, Republic of Korea.
authors.forename: Hye Won
authors.initials: HW
authors.lastname: Lee
authors.forename: Hee Seok
authors.initials: HS
authors.lastname: Lee
authors.forename: Deog Kyeom
authors.initials: DK
authors.lastname: Kim
authors.forename: Dong Seok
authors.initials: DS
authors.lastname: Ko
authors.forename: Sung Koo
authors.initials: SK
authors.lastname: Han
authors.forename: Young-Soo
authors.initials: YS
authors.lastname: Shim
authors.forename: Jae-Joon
authors.initials: JJ
authors.lastname: Yim
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D018664:Interleukin-12 / Q000235:genetics*; D007723:Korea; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D018123:Receptors, Interleukin / Q000235:genetics*; D053707:Receptors, Interleukin-12; D014397:Tuberculosis, Pulmonary / Q000208:ethnology / Q000235:genetics*
chemical_list: C508438:IL12RB1 protein, human; D018123:Receptors, Interleukin; D053707:Receptors, Interleukin-12; D018664:Interleukin-12