Leveraging global multi-ancestry meta-analysis in the study of idiopathic pulmonary fibrosis genetics

被引：23

作者：

Partanen, Juulia J. ^{[1
]}

Happola, Paavo ^{[1
]}

Zhou, Wei ^{[2
,3
,4
]}

Lehisto, Arto A. ^{[1
]}

Ainola, Mari ^{[5
,6
]}

Sutinen, Eva ^{[5
,6
]}

Allen, Richard J. ^{[7
]}

Stockwell, Amy D. ^{[8
]}

Leavy, Olivia C. ^{[7
]}

Oldham, Justin M. ^{[9
]}

Guillen-Guio, Beatriz ^{[7
]}

Cox, Nancy J. ^{[10
,11
]}

Hirbo, Jibril B. ^{[10
,11
]}

Schwartz, David A. ^{[12
]}

Fingerlin, Tasha E. ^{[13
]}

Flores, Carlos ^{[14
,15
,16
,17
]}

Noth, Imre ^{[18
]}

Yaspan, Brian L. ^{[8
]}

Jenkins, R. Gisli ^{[19
,20
]}

Wain, Louise V. ^{[7
,21
]}

Ripatti, Samuli ^{[1
,22
]}

Pirinen, Matti ^{[1
,23
,24
]}

Laitinen, Tarja ^{[25
,26
]}

Kaarteenaho, Riitta ^{[27
,28
]}

Myllarniemi, Marjukka

Daly, Mark J. ^{[1
,2
,3
,4
]}

Koskela, Jukka T. ^{[1
]}

机构：

[1] Univ Helsinki, HiLIFE, Inst Mol Med Finland FIMM, Helsinki, Finland

[2] Massachusetts Gen Hosp, Dept Med, Analyt & Translat Genet Unit, Boston, MA 02114 USA

[3] Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA USA

[4] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA USA

[5] Univ Helsinki, Individualized Drug Therapy Res Program, Fac Med, Helsinki, Finland

[6] Helsinki Univ Hosp, Dept Pulm Med, Heart & Lung Ctr, Helsinki, Finland

[7] Univ Leicester, Dept Hlth Sci, Leicester, Leics, England

[8] Genentech Inc, Human Genet, San Francisco, CA USA

[9] Univ Calif Davis, Dept Internal Med, Div Pulm Crit Care & Sleep Med, Sacramento, CA USA

[10] Vanderbilt Univ, Dept Med, Div Med Genet, Med Ctr, Nashville, TN USA

[11] Vanderbilt Univ, Vanderbilt Genet Inst, Med Ctr, Nashville, TN USA

[12] Univ Colorado, Dept Med, Aurora, CO USA

[13] Natl Jewish Hlth, Ctr Genes Environm & Hlth, Denver, CO USA

[14] Hosp Univ Ntra Sra Candelaria, Res Unit, Santa Cruz De Tenerife, Spain

[15] Inst Salud Carlos III, CIBER Enfermedades Resp, Madrid, Spain

[16] Inst Tecnol Energias Renovables ITER, Genom Div, Santa Cruz De Tenerife, Spain

[17] Univ Fernando Pessoa Canarias, Fac Hlth Sci, Las Palmas Gran Canaria, Spain

[18] Univ Virginia, Dept Med, Div Pulm & Crit Care Med, Charlottesville, VA USA

[19] Imperial Coll London, Natl Heart & Lung Inst, London, England

[20] Guys & St Thomas NHS Fdn Trust, Royal Brompton & Harefield Hosp, London, England

[21] Glenfield Hosp, Leicester Resp Biomed Res Ctr, Natl Inst Hlth Res, Leicester, Leics, England

[22] Univ Helsinki, Dept Med, Helsinki, Finland

[23] Univ Helsinki, Dept Publ Hlth, Helsinki, Finland

[24] Univ Helsinki, Dept Math & Stat, Helsinki, Finland

[25] Tampere Univ Hosp, Adm Ctr, Tampere, Finland

[26] Univ Tampere, Tampere, Finland

[27] Univ Oulu, Res Unit Internal Med, Oulu, Finland

[28] Oulu Univ Hosp, Med Res Ctr Oulu, Oulu, Finland

来源：

CELL GENOMICS | 2022年 / 2卷 / 10期

基金：

英国医学研究理事会; 英国惠康基金; 美国国家卫生研究院; 中国国家自然科学基金; 欧盟地平线“2020”; 芬兰科学院;

关键词：

GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY; EXPRESSION; COMMON; GENES;

D O I：

10.1016/j.xgen.2022.100181

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

The research of rare and devastating orphan diseases, such as idiopathic pulmonary fibrosis (IPF) has been limited by the rarity of the disease itself. The prognosis is poor-the prevalence of IPF is only approximately four times the incidence, limiting the recruitment of patients to trials and studies of the underlying biology. Global biobanking efforts can dramatically alter the future of IPF research. We describe a large-scale meta-analysis of IPF, with 8,492 patients and 1,355,819 population controls from 13 biobanks around the globe. Finally, we combine this meta-analysis with the largest available meta-analysis of IPF, reaching 11,160 patients and 1,364,410 population controls. We identify seven novel genome-wide significant loci, only one of which would have been identified if the analysis had been limited to European ancestry individuals. We observe notable pleiotropy across IPF susceptibility and severe COVID-19 infection and note an unexplained sex-heterogeneity effect at the strongest IPF locus MUC5B.

引用

页数：17

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