King TE Jr. Clinical advances in the diagnosis and therapy of the interstitial lung diseases. Am J Respir Crit Care Med. 2005;172:268–79. https://doi.org/10.1164/rccm.200503-483OE.
Mathai SC, Danoff SK. Management of interstitial lung disease associated with connective tissue disease. BMJ. 2016;352: h6819. https://doi.org/10.1136/bmj.h6819.
Article PubMed PubMed Central Google Scholar
Maher TM. Interstitial lung disease: a review. JAMA. 2024;331:1655–65. https://doi.org/10.1001/jama.2024.3669.
Article CAS PubMed Google Scholar
Li SJ, Wu YL, Chen JH, Shen SY, Duan J, Xu HE. Autoimmune diseases: targets, biology, and drug discovery. Acta Pharmacol Sin. 2024;45:674–85. https://doi.org/10.1038/s41401-023-01207-2.
Article CAS PubMed Google Scholar
Armanios MY, Chen JJ, Cogan JD, Alder JK, Ingersoll RG, Markin C, Lawson WE, Xie M, Vulto I, Phillips JA 3rd, et al. Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med. 2007;356:1317–26. https://doi.org/10.1056/NEJMoa066157.
Article CAS PubMed Google Scholar
Borie R, Kannengiesser C, Dupin C, Debray MP, Cazes A, Crestani B. Impact of genetic factors on fibrosing interstitial lung diseases. Incidence and clinical presentation in adults. Presse Med. 2020;49: 104024. https://doi.org/10.1016/j.lpm.2020.104024.
Morey RA, Zheng Y, Bayly H, Sun D, Garrett ME, Gasperi M, Maihofer AX, Baird CL, Grasby KL, Huggins AA, et al. Genomic structural equation modeling reveals latent phenotypes in the human cortex with distinct genetic architecture. Transl Psychiatry. 2024;14:451. https://doi.org/10.1038/s41398-024-03152-y.
Article PubMed PubMed Central Google Scholar
Bulik-Sullivan B, Finucane HK, Anttila V, Gusev A, Day FR, Loh PR, Duncan L, Perry JR, Patterson N, Robinson EB, et al. An atlas of genetic correlations across human diseases and traits. Nat Genet. 2015;47:1236–41. https://doi.org/10.1038/ng.3406.
Article CAS PubMed PubMed Central Google Scholar
Sakaue S, Kanai M, Tanigawa Y, Karjalainen J, Kurki M, Koshiba S, Narita A, Konuma T, Yamamoto K, Akiyama M, et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nat Genet. 2021;53:1415–24. https://doi.org/10.1038/s41588-021-00931-x.
Article CAS PubMed PubMed Central Google Scholar
Ji SG, Juran BD, Mucha S, Folseraas T, Jostins L, Melum E, Kumasaka N, Atkinson EJ, Schlicht EM, Liu JZ, et al. Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. Nat Genet. 2017;49:269–73. https://doi.org/10.1038/ng.3745.
Article CAS PubMed Google Scholar
Dönertaş HM, Fabian DK, Valenzuela MF, Partridge L, Thornton JM. Common genetic associations between age-related diseases. Nat Aging. 2021;1:400–12. https://doi.org/10.1038/s43587-021-00051-5.
Article PubMed PubMed Central Google Scholar
Chia R, Saez-Atienzar S, Murphy N, Chiò A, Blauwendraat C, Roda RH, Tienari PJ, Kaminski HJ, Ricciardi R, Guida M, et al. Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study. Proc Natl Acad Sci USA. 2022. https://doi.org/10.1073/pnas.2108672119.
Article PubMed PubMed Central Google Scholar
Cordell HJ, Fryett JJ, Ueno K, Darlay R, Aiba Y, Hitomi Y, Kawashima M, Nishida N, Khor SS, Gervais O, et al. An international genome-wide meta-analysis of primary biliary cholangitis: novel risk loci and candidate drugs. J Hepatol. 2021;75:572–81. https://doi.org/10.1016/j.jhep.2021.04.055.
Article CAS PubMed PubMed Central Google Scholar
de Lange KM, Moutsianas L, Lee JC, Lamb CA, Luo Y, Kennedy NA, Jostins L, Rice DL, Gutierrez-Achury J, Ji SG, et al. Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. Nat Genet. 2017;49:256–61. https://doi.org/10.1038/ng.3760.
Article CAS PubMed PubMed Central Google Scholar
Ishigaki K, Sakaue S, Terao C, Luo Y, Sonehara K, Yamaguchi K, Amariuta T, Too CL, Laufer VA, Scott IC, et al. Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis. Nat Genet. 2022;54:1640–51. https://doi.org/10.1038/s41588-022-01213-w.
Article CAS PubMed PubMed Central Google Scholar
Bentham J, Morris DL, Graham DSC, Pinder CL, Tombleson P, Behrens TW, Martín J, Fairfax BP, Knight JC, Chen L, et al. Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. Nat Genet. 2015;47:1457–64. https://doi.org/10.1038/ng.3434.
Article CAS PubMed PubMed Central Google Scholar
Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility. Science 2019;365. https://doi.org/10.1126/science.aav7188.
Jin Y, Andersen G, Yorgov D, Ferrara TM, Ben S, Brownson KM, Holland PJ, Birlea SA, Siebert J, Hartmann A, et al. Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants. Nat Genet. 2016;48:1418–24. https://doi.org/10.1038/ng.3680.
Article CAS PubMed PubMed Central Google Scholar
Gong W, Guo P, Li Y, Liu L, Yan R, Liu S, Wang S, Xue F, Zhou X, Yuan Z. Role of the gut-brain axis in the shared genetic etiology between gastrointestinal tract diseases and psychiatric disorders. JAMA Psychiatr. 2023. https://doi.org/10.1001/jamapsychiatry.2022.4974.
The Genotype-Tissue Expression (GTEx) project. The genotype-tissue expression (GTEx) project. Nat Genet. 2013;45:580–5. https://doi.org/10.1038/ng.2653.
Ray D, Chatterjee N. A powerful method for pleiotropic analysis under composite null hypothesis identifies novel shared loci between type 2 diabetes and prostate cancer. PLoS Genet. 2020;16: e1009218. https://doi.org/10.1371/journal.pgen.1009218.
Article CAS PubMed PubMed Central Google Scholar
Watanabe K, Taskesen E, van Bochoven A, Posthuma D. Functional mapping and annotation of genetic associations with FUMA. Nat Commun. 2017;8:1826. https://doi.org/10.1038/s41467-017-01261-5.
Article CAS PubMed PubMed Central Google Scholar
Giambartolomei C, Vukcevic D, Schadt EE, Franke L, Hingorani AD, Wallace C, Plagnol V. Bayesian test for colocalisation between pairs of genetic association studies using summary statistics. PLoS Genet. 2014;10: e1004383. https://doi.org/10.1371/journal.pgen.1004383.
Article CAS PubMed PubMed Central Google Scholar
de Leeuw CA, Mooij JM, Heskes T, Posthuma D. MAGMA: generalized gene-set analysis of GWAS data. PLoS Comput Biol. 2015;11: e1004219. https://doi.org/10.1371/journal.pcbi.1004219.
Article CAS PubMed PubMed Central Google Scholar
Subramanian A, Tamayo P, Mootha VK, Mukherjee S, Ebert BL, Gillette MA, Paulovich A, Pomeroy SL, Golub TR, Lander ES, Mesirov JP. Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci USA. 2005;102:15545–50. https://doi.org/10.1073/pnas.0506580102.
Article CAS PubMed PubMed Central Google Scholar
Jin Y, Pan Z, Zhou J, Wang K, Zhu P, Wang Y, Xu X, Zhang J, Hao C. Hedgehog signaling pathway regulates Th17 cell differentiation in asthma via IL-6/STAT3 signaling. Int Immunopharmacol. 2024;139: 112771. https://doi.org/10.1016/j.intimp.2024.112771.
Article CAS PubMed Google Scholar
Bergmann C, Chenguiti Fakhouri S, Thuong TM, Filla T, Rigau AR, Ekici AB, Merlevede B, Hallenberger L, Zhu H, Dees C, et al. Mutual amplification of GLI2/Hedgehog and cJUN/AP1 signaling in fibroblasts in Systemic Sclerosis (SSc) - potential implications for combined therapies. Arthritis Rheumatol. 2024. https://doi.org/10.1002/art.42979.
Comments (0)