Literature DB >> 23103228

Identification of IL18RAP/IL18R1 and IL12B as leprosy risk genes demonstrates shared pathogenesis between inflammation and infectious diseases.

Hong Liu1, Astrid Irwanto, Hongqing Tian, Xi'an Fu, Yongxiang Yu, Gongqi Yu, Huiqi Low, Tongsheng Chu, Yi Li, Benqing Shi, Mingfei Chen, Yonghu Sun, Chunying Yuan, Nan Lu, Jiabao You, Fangfang Bao, Jinghui Li, Jian Liu, Huaxu Liu, Dianchang Liu, Xiulu Yu, Lin Zhang, Qing Yang, Na Wang, Guiye Niu, Shanshan Ma, Yan Zhou, Chuan Wang, Shumin Chen, Xuejun Zhang, Jianjun Liu, Furen Zhang.   

Abstract

Of eight leprosy susceptibility loci identified by genome-wide association studies, five have been implicated in Crohn disease, suggesting a common genetic fingerprint between leprosy and inflammatory bowel disease (IBD). Here, we conducted a multiple-stage genetic association study of 133 IBD susceptibility loci in multiple leprosy samples (totaling 4,971 leprosy cases and 5,503 controls) from a Chinese population and discovered two associations at rs2058660 on 2q12.1 (p = 4.57 × 10(-19); odds ratio [OR] = 1.30) and rs6871626 on 5q33.3 (p = 3.95 × 10(-18); OR = 0.75), implicating IL18RAP/IL18R1 and IL12B as susceptibility genes for leprosy. Our study reveals the important role of IL12/IL18-mediated transcriptional regulation of IFN-γ production in leprosy, and together with previous findings, it demonstrates the shared genetic susceptibility between infectious and inflammatory diseases.
Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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Year:  2012        PMID: 23103228      PMCID: PMC3487119          DOI: 10.1016/j.ajhg.2012.09.010

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  38 in total

1.  The production of IFN-gamma by IL-12/IL-18-activated macrophages requires STAT4 signaling and is inhibited by IL-4.

Authors:  H Schindler; M B Lutz; M Röllinghoff; C Bogdan
Journal:  J Immunol       Date:  2001-03-01       Impact factor: 5.422

2.  IL-18 promotes type 1 cytokine production from NK cells and T cells in human intracellular infection.

Authors:  V E García; K Uyemura; P A Sieling; M T Ochoa; C T Morita; H Okamura; M Kurimoto; T H Rea; R L Modlin
Journal:  J Immunol       Date:  1999-05-15       Impact factor: 5.422

3.  Interleukin-13 is the key effector Th2 cytokine in ulcerative colitis that affects epithelial tight junctions, apoptosis, and cell restitution.

Authors:  Frank Heller; Peter Florian; Christian Bojarski; Jan Richter; Melanie Christ; Bernd Hillenbrand; Joachim Mankertz; Alfred H Gitter; Nataly Bürgel; Michael Fromm; Martin Zeitz; Ivan Fuss; Warren Strober; Jörg D Schulzke
Journal:  Gastroenterology       Date:  2005-08       Impact factor: 22.682

4.  IL-18, a novel immunoregulatory cytokine, is up-regulated in Crohn's disease: expression and localization in intestinal mucosal cells.

Authors:  T T Pizarro; M H Michie; M Bentz; J Woraratanadharm; M F Smith; E Foley; C A Moskaluk; S J Bickston; F Cominelli
Journal:  J Immunol       Date:  1999-06-01       Impact factor: 5.422

Review 5.  Th1-Th2 paradigm: insights from leprosy.

Authors:  R L Modlin
Journal:  J Invest Dermatol       Date:  1994-06       Impact factor: 8.551

6.  IL-33, an interleukin-1-like cytokine that signals via the IL-1 receptor-related protein ST2 and induces T helper type 2-associated cytokines.

Authors:  Jochen Schmitz; Alexander Owyang; Elizabeth Oldham; Yaoli Song; Erin Murphy; Terril K McClanahan; Gerard Zurawski; Mehrdad Moshrefi; Jinzhong Qin; Xiaoxia Li; Daniel M Gorman; J Fernando Bazan; Robert A Kastelein
Journal:  Immunity       Date:  2005-11       Impact factor: 31.745

7.  Interleukin 18 is a primary mediator of the inflammation associated with dextran sulphate sodium induced colitis: blocking interleukin 18 attenuates intestinal damage.

Authors:  P V Sivakumar; G M Westrich; S Kanaly; K Garka; T L Born; J M J Derry; J L Viney
Journal:  Gut       Date:  2002-06       Impact factor: 23.059

8.  The possible role of interleukin (IL)-12 and interferon-gamma-inducing factor/IL-18 in protection against experimental Mycobacterium leprae infection in mice.

Authors:  K Kobayashi; M Kai; M Gidoh; N Nakata; M Endoh; R P Singh; T Kasama; H Saito
Journal:  Clin Immunol Immunopathol       Date:  1998-09

9.  Associations between IL12B polymorphisms and tuberculosis in the Hong Kong Chinese population.

Authors:  Hoi W Tso; Yu Lung Lau; Cheuk M Tam; Hing S Wong; Alan K S Chiang
Journal:  J Infect Dis       Date:  2004-07-30       Impact factor: 5.226

10.  TLR9 regulates Th1 responses and cooperates with TLR2 in mediating optimal resistance to Mycobacterium tuberculosis.

Authors:  Andre Bafica; Charles A Scanga; Carl G Feng; Cynthia Leifer; Allen Cheever; Alan Sher
Journal:  J Exp Med       Date:  2005-12-19       Impact factor: 14.307

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  25 in total

1.  Two susceptibility loci to Takayasu arteritis reveal a synergistic role of the IL12B and HLA-B regions in a Japanese population.

Authors:  Chikashi Terao; Hajime Yoshifuji; Akinori Kimura; Takayoshi Matsumura; Koichiro Ohmura; Meiko Takahashi; Masakazu Shimizu; Takahisa Kawaguchi; Zhiyong Chen; Taeko K Naruse; Aiko Sato-Otsubo; Yusuke Ebana; Yasuhiro Maejima; Hideyuki Kinoshita; Kosaku Murakami; Daisuke Kawabata; Yoko Wada; Ichiei Narita; Junichi Tazaki; Yasushi Kawaguchi; Hisashi Yamanaka; Kimiko Yurugi; Yasuo Miura; Taira Maekawa; Seishi Ogawa; Issei Komuro; Ryozo Nagai; Ryo Yamada; Yasuharu Tabara; Mitsuaki Isobe; Tsuneyo Mimori; Fumihiko Matsuda
Journal:  Am J Hum Genet       Date:  2013-07-03       Impact factor: 11.025

2.  NOD2 and CCDC122-LACC1 genes are associated with leprosy susceptibility in Brazilians.

Authors:  Carolinne Sales-Marques; Heloisa Salomão; Vinicius Medeiros Fava; Lucia Elena Alvarado-Arnez; Evaldo Pinheiro Amaral; Cynthia Chester Cardoso; Ida Maria Foschiani Dias-Batista; Weber Laurentino da Silva; Priscila Medeiros; Marcos da Cunha Lopes Virmond; Francisco Carlos Félix Lana; Antonio Guilherme Pacheco; Milton Ozório Moraes; Marcelo Távora Mira; Ana Carla Pereira Latini
Journal:  Hum Genet       Date:  2014-11-04       Impact factor: 4.132

3.  Single nucleotide polymorphisms of IL12B are associated with Takayasu arteritis in Chinese Han population.

Authors:  Xiaoting Wen; Si Chen; Ping Li; Jing Li; Ziyan Wu; Yuan Li; Liubing Li; Hui Yuan; Xinping Tian; Fengchun Zhang; Yongzhe Li
Journal:  Rheumatol Int       Date:  2017-02-03       Impact factor: 2.631

4.  The IL18RAP region disease polymorphism decreases IL-18RAP/IL-18R1/IL-1R1 expression and signaling through innate receptor-initiated pathways.

Authors:  Matija Hedl; Shasha Zheng; Clara Abraham
Journal:  J Immunol       Date:  2014-05-19       Impact factor: 5.422

5.  Missense Variants in HIF1A and LACC1 Contribute to Leprosy Risk in Han Chinese.

Authors:  Dong Wang; Yu Fan; Mahadev Malhi; Rui Bi; Yong Wu; Min Xu; Xiu-Feng Yu; Heng Long; Yu-Ye Li; Deng-Feng Zhang; Yong-Gang Yao
Journal:  Am J Hum Genet       Date:  2018-04-26       Impact factor: 11.025

Review 6.  Mitochondria: Powering the Innate Immune Response to Mycobacterium tuberculosis Infection.

Authors:  Kristin L Patrick; Robert O Watson
Journal:  Infect Immun       Date:  2021-03-17       Impact factor: 3.441

7.  Detection of Mycobacterium avium subspecies paratuberculosis in patients with Crohn's disease is unrelated to the presence of single nucleotide polymorphisms rs2241880 (ATG16L1) and rs10045431 (IL12B).

Authors:  James P Dalton; Alan Desmond; Fergus Shanahan; Colin Hill
Journal:  Med Microbiol Immunol       Date:  2014-02-13       Impact factor: 3.402

Review 8.  Gene Association with Leprosy: A Review of Published Data.

Authors:  Priscila Saamara Mazini; Hugo Vicentin Alves; Pâmela Guimarães Reis; Ana Paula Lopes; Ana Maria Sell; Manuel Santos-Rosa; Jeane Eliete Laguila Visentainer; Paulo Rodrigues-Santos
Journal:  Front Immunol       Date:  2016-01-12       Impact factor: 7.561

9.  IRF5 Is Required for Bacterial Clearance in Human M1-Polarized Macrophages, and IRF5 Immune-Mediated Disease Risk Variants Modulate This Outcome.

Authors:  Matija Hedl; Jie Yan; Heiko Witt; Clara Abraham
Journal:  J Immunol       Date:  2018-12-28       Impact factor: 5.422

10.  Identification of susceptibility locus shared by IgA nephropathy and inflammatory bowel disease in a Chinese Han population.

Authors:  Dianchun Shi; Zhong Zhong; Meng Wang; Lu Cai; Dongying Fu; Yuan Peng; Lin Guo; Haiping Mao; Xueqing Yu; Ming Li
Journal:  J Hum Genet       Date:  2019-12-19       Impact factor: 3.172

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