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. OBJECTIVES: 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. (c) 2005 S. Karger AG, Basel
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. OBJECTIVES: 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. (c) 2005 S. Karger AG, Basel
Authors: Esther van de Vosse; Margje H Haverkamp; Noe Ramirez-Alejo; Mónica Martinez-Gallo; Lizbeth Blancas-Galicia; Ayşe Metin; Ben Zion Garty; Çağman Sun-Tan; Arnon Broides; Roelof A de Paus; Özlem Keskin; Deniz Çağdaş; Ilhan Tezcan; Encarna Lopez-Ruzafa; Juan I Aróstegui; Jacov Levy; Francisco J Espinosa-Rosales; Özden Sanal; Leopoldo Santos-Argumedo; Jean-Laurent Casanova; Stephanie Boisson-Dupuis; Jaap T van Dissel; Jacinta Bustamante Journal: Hum Mutat Date: 2013-08-08 Impact factor: 4.878