Genome-wide association study in patients with pulmonary Mycobacterium avium complex disease

被引：17

作者：

Namkoong, Ho ^{[1
,2
,3
]}

Omae, Yosuke ^{[4
,5
]}

Asakura, Takanori ^{[1
,6
]}

Ishii, Makoto ^{[1
]}

Suzuki, Shoji ^{[1
]}

Morimoto, Kozo ^{[7
]}

Kawai, Yosuke ^{[4
,5
]}

Emoto, Katsura ^{[8
]}

Oler, Andrew J. ^{[9
]}

Szymanski, Eva P. ^{[2
]}

Yoshida, Mitsunori ^{[6
]}

Matsuda, Shuichi ^{[7
]}

Yagi, Kazuma ^{[1
]}

Hase, Isano ^{[10
]}

Nishimura, Tomoyasu ^{[11
]}

Sasaki, Yuka ^{[7
]}

Asami, Takahiro ^{[1
]}

Shiomi, Tetsuya ^{[12
]}

Matsubara, Hiroaki ^{[13
]}

Shimada, Hisato ^{[14
]}

Hamamoto, Junko ^{[1
]}

Jhun, Byung Woo ^{[15
]}

Kim, Su-Young ^{[15
]}

Huh, Hee Jae ^{[16
]}

Won, Hong-Hee ^{[17
]}

Ato, Manabu ^{[6
]}

Kosaki, Kenjiro ^{[18
]}

Betsuyaku, Tomoko ^{[1
]}

Fukunaga, Koichi ^{[1
]}

Kurashima, Atsuyuki ^{[7
]}

Tettelin, Herve ^{[19
,20
]}

Yanai, Hideki ^{[21
]}

Mahasirimongkol, Surakameth ^{[22
]}

Olivier, Kenneth N. ^{[23
]}

Hoshino, Yoshihiko ^{[6
]}

Koh, Won-Jung ^{[15
]}

Holland, Steven M. ^{[2
]}

Tokunaga, Katsushi ^{[4
,5
]}

Hasegawa, Naoki ^{[24
]}

机构：

[1] Keio Univ, Dept Med, Div Pulm Med, Sch Med, Tokyo, Japan

[2] NIAID, Lab Clin Immunol & Microbiol, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA

[3] Japan Soc Promot Sci, Tokyo, Japan

[4] Univ Tokyo, Grad Sch Med, Dept Human Genet, Tokyo, Japan

[5] Natl Ctr Global Hlth & Med, Genome Med Sci Project Toyama, Tokyo, Japan

[6] Natl Inst Infect Dis, Leprosy Res Ctr, Dept Mycobacteriol, Tokyo, Japan

[7] Japan AntiTB Assoc, Resp Dis Ctr, Fukujuji Hosp, Tokyo, Japan

[8] Keio Univ, Dept Pathol, Sch Med, Tokyo, Japan

[9] NIAID, Bioinformat & Computat Biosci Branch, Off Cyber Infrastruct & Computat Biol, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA

[10] Natl Hosp Org, Dept Resp Med, Utsunomiya Hosp, Utsunomiya, Tochigi, Japan

[11] Keio Univ, Hlth Ctr, Tokyo, Japan

[12] Keiyu Hosp, Dept Pulm Med, Yokohama, Kanagawa, Japan

[13] Fussa Hosp, Dept Pulm Med, Tokyo, Japan

[14] Kawasaki Municipal Ida Hosp, Dept Pulm Med, Kawasaki, Kanagawa, Japan

[15] Sungkyunkwan Univ, Samsung Med Ctr, Dept Med, Div Pulm & Crit Care Med,Sch Med, Seoul, South Korea

[16] Sungkyunkwan Univ, Samsung Med Ctr, Dept Lab Med & Genet, Sch Med, Seoul, South Korea

[17] Sungkyunkwan Univ, Samsung Med Ctr, Samsung Adv Inst Hlth Sci & Technol SAIHST, Seoul, South Korea

[18] Keio Univ, Ctr Med Genet, Sch Med, Tokyo, Japan

[19] Univ Maryland, Dept Microbiol & Immunol, Sch Med, Bethesda, MD USA

[20] Univ Maryland, Sch Med, Inst Genome Sci, Bethesda, MD USA

[21] Japan AntiTB Assoc, Dept Clin Lab, Fukujuji Hosp, Tokyo, Japan

[22] Med Life Sci Inst, Med Genet Ctr, Dept Med Sci, Nonthaburi, Thailand

[23] NHLBI, Pulm Branch, NIH, Bldg 10, Bethesda, MD 20892 USA

[24] Keio Univ, Dept Infect Dis, Sch Med, Tokyo, Japan

来源：

EUROPEAN RESPIRATORY JOURNAL | 2021年 / 58卷 / 02期

基金：

新加坡国家研究基金会; 美国国家卫生研究院;

关键词：

NONTUBERCULOUS MYCOBACTERIA; HOST SUSCEPTIBILITY; LUNG-DISEASE; POLYMORPHISMS; GENE;

D O I：

10.1183/13993003.02269-2019

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

Rationale Nontuberculous mycobacteria (NTM) are environmental mycobacteria that can cause a chronic progressive lung disease. Although epidemiological data indicate potential genetic predisposition, its nature remains unclear. Objectives We aimed to identify host susceptibility loci for Mycobacterium avium complex (MAC), the most common NTM pathogen. Methods This genome-wide association study (GWAS) was conducted in Japanese patients with pulmonary MAC and healthy controls, followed by genotyping of candidate single-nucleotide polymorphisms (SNPs) in another Japanese cohort. For verification by Korean and European ancestry, we performed SNP genotyping. Results The GWAS discovery set included 475 pulmonary MAC cases and 417 controls. Both GWAS and replication analysis of 591 pulmonary MAC cases and 718 controls revealed the strongest association with chromosome 16p21, particularly with rs109592 (p=1.64x10(-13), OR 0.54), which is in an intronic region of the calcineurin-like EF-hand protein 2 (CHP2). Expression quantitative trait loci analysis demonstrated an association with lung CHP2 expression. CHP2 was expressed in the lung tissue in pulmonary MAC disease. This SNP was associated with the nodular bronchiectasis subtype. Additionally, this SNP was significantly associated with the disease in patients of Korean (p=2.18x10(-12), OR 0.54) and European ( p=5.12 x10(-03), OR 0.63) ancestry. Conclusions We identified rs109592 in the CHP2 locus as a susceptibility marker for pulmonary MAC disease.

引用

页数：12

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