Novel idiopathic pulmonary fibrosis susceptibility variants revealed by deep sequencing
| Autor: | Jose M. Lorenzo-Salazar, Shwu-Fan Ma, Jonathan Jou, Pei-Chi Hou, Beatriz Guillen-Guio, Richard J. Allen, R. Gisli Jenkins, Louise V. Wain, Justin M. Oldham, Imre Noth, Carlos Flores |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: | |
| Zdroj: | ERJ Open Research, Vol 5, Iss 2 (2019) |
| Druh dokumentu: | article |
| ISSN: | 2312-0541 23120541 |
| DOI: | 10.1183/23120541.00071-2019 |
| Popis: | Background Specific common and rare single nucleotide variants (SNVs) increase the likelihood of developing sporadic idiopathic pulmonary fibrosis (IPF). We performed target-enriched sequencing on three loci previously identified by a genome-wide association study to gain a deeper understanding of the full spectrum of IPF genetic risk and performed a two-stage case–control association study. Methods A total of 1.7 Mb of DNA from 181 IPF patients was deep sequenced (>100×) across 11p15.5, 14q21.3 and 17q21.31 loci. Comparisons were performed against 501 unrelated controls and replication studies were assessed in 3968 subjects. Results 36 SNVs were associated with IPF susceptibility in the discovery stage (p |
| Databáze: | Directory of Open Access Journals |
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