Missense mutations of the interleukin-12 receptor beta 1(IL12RB1) and interferon-gamma receptor 1 (IFNGR1) genes are not associated with susceptibility to lepromatous leprosy in Korea.
Interleukin-12 receptor beta 1 ( IL12RB1), interleukin-12 receptor beta 2 ( IL12RB2), and interferon gamma receptor 1 ( IFNGR1) perform important roles in the host defense against intracellular pathogens such as Mycobacteria. Several mutations within their genes have been confirmed as associated with increased susceptibility to mycobacterial infection. However, the association between mutations of the IL12RB1, IL12RB2, and IFNGR1 encoding genes and lepromatous leprosy has not been studied. This study screened for polymorphisms within IL12RB1, IL12RB2, and IFNGR1 encoding genes in the Korean populations using polymerase chain reaction (PCR)/single-strand conformation polymorphism (SSCP) DNA sequencing assay, and an association study was performed using the missense mutations of 705 A/G (Q214R), 1196 G/C (G378R), 1637 G/A (A525T), and 1664 C/T (P534S) of the IL12RB1, 83 G/A (V14M), and 1443 T/C (L467P) for the IFNGR1 encoding genes. There were no differences in the genotype and allele frequencies of IL12RB1 and IFNGR1 genes between 93 lepromatous leprosy patients and 94 control subjects. In conclusion, missense mutations of 705 A/G (Q214R), 1196 G/C (G378R), 1637 G/A (A525T), 1664 C/T (P534S) of the IL12RB1, 83 G/A (V14 M), and 1443 T/C (L467P) of the IFNGR1 encoding genes have no association with the susceptibility to lepromatous leprosy in the Korean population.
Institute of Hansen's disease, Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Socho-Gu, 137-701, Seoul, Korea.
Seong-Beom
SB
Lee
Institute of Hansen's disease, Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Socho-Gu, 137-701, Seoul, Korea.
Byoung Chul
BC
Kim
Institute of Hansen's disease, Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Socho-Gu, 137-701, Seoul, Korea.
Song Hou
SH
Jin
Department of Biostatistics, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Socho-Gu, 137-701, Seoul, Korea.
Yong-Gyu
YG
Park
Institute of Hansen's disease, Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Socho-Gu, 137-701, Seoul, Korea.
Se-Kon
SK
Kim
Institute of Hansen's disease, Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Socho-Gu, 137-701, Seoul, Korea.
Tae-Jin
TJ
Kang
Institute of Hansen's disease, Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Socho-Gu, 137-701, Seoul, Korea. guetae@catholic.ac.kr.|Institute of Hansen's disease, Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Socho-Gu, 137-701, Seoul, Korea. guetae@catholic.ac.kr.
Gue-Tae
GT
Chae
D000328:Adult; D000368:Aged; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007723:Korea; D015440:Leprosy, Lepromatous / Q000209:etiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D017471:Receptors, Interferon / Q000235:genetics*; D018123:Receptors, Interleukin / Q000235:genetics*; D053707:Receptors, Interleukin-12
C508438:IL12RB1 protein, human; C508439:IL12RB2 protein, human; D017471:Receptors, Interferon; D018123:Receptors, Interleukin; D053707:Receptors, Interleukin-12; C120411:interferon receptor, type II