NDLI: Multicentric Genome-Wide Association Study for Primary Spontaneous Pneumothorax

Content Provider	PubMed Central
Author	Sousa, Inês Abrantes, Patrícia Francisco, Vânia Teixeira, Gilberto Monteiro, Marta Neves, João Norte, Ana Cordeiro, Carlos Robalo Moura, E. Sá João Reis, Ernestina Santos, Patrícia Oliveira, Manuela Sousa, Susana Fradinho, Marta Malheiro, Filipa Luís, Negrão Feijó, Salvato Oliveira, Sofia A.
Editor	Dmitri, Zaykin
Copyright Year	2016
Abstract	Despite elevated incidence and recurrence rates for Primary Spontaneous Pneumothorax (PSP), little is known about its etiology, and the genetics of idiopathic PSP remains unexplored. To identify genetic variants contributing to sporadic PSP risk, we conducted the first PSP genome-wide association study. Two replicate pools of 92 Portuguese PSP cases and of 129 age- and sex-matched controls were allelotyped in triplicate on the Affymetrix Human SNP Array 6.0 arrays. Markers passing quality control were ranked by relative allele score difference between cases and controls (\|RASdiff\|), by a novel cluster method and by a combined Z-test. 101 single nucleotide polymorphisms (SNPs) were selected using these three approaches for technical validation by individual genotyping in the discovery dataset. 87 out of 94 successfully tested SNPs were nominally associated in the discovery dataset. Replication of the 87 technically validated SNPs was then carried out in an independent replication dataset of 100 Portuguese cases and 425 controls. The intergenic rs4733649 SNP in chromosome 8 (between LINC00824 and LINC00977) was associated with PSP in the discovery (P = 4.07E-03, ORC[95% CI] = 1.88[1.22–2.89]), replication (P = 1.50E-02, ORC[95% CI] = 1.50[1.08–2.09]) and combined datasets (P = 8.61E-05, ORC[95% CI] = 1.65[1.29–2.13]). This study identified for the first time one genetic risk factor for sporadic PSP, but future studies are warranted to further confirm this finding in other populations and uncover its functional role in PSP pathogenesis.
Related Links	http://dx.doi.org/10.1371/journal.pone.0156103
Starting Page	156103
File Format	PDF
ISSN	19326203
e-ISSN	19326203
Journal	PLoS ONE
Issue Number	5
Volume Number	11
Language	English
Publisher	Public Library of Science
Publisher Date	2016-05-01
Access Restriction	Open
Rights Holder	Public Library of Science
Subject Keyword	Biochemistry, Genetics and Molecular Biology(all) Agricultural and Biological Sciences(all) Medicine(all) Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

A Genome-Wide Association Study for Primary Open Angle Glaucoma and Macular Degeneration Reveals Novel Loci

SNP Set Association Analysis for Genome-Wide Association Studies

Genome-Wide Association Study for Cytokines and Immunoglobulin G in Swine

Genome-Wide Association Study of Relative Telomere Length

Genome-Wide Association Study of Proneness to Anger

Weighted SNP Set Analysis in Genome-Wide Association Study

Genome-Wide Association Study of Parity in Bangladeshi Women

Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population

Genome-Wide Association Study Link Novel Loci to Endometriosis

Multicentric Genome-Wide Association Study for Primary Spontaneous Pneumothorax

Similar Documents

A Genome-Wide Association Study for Primary Open Angle Glaucoma and Macular Degeneration Reveals Novel Loci

SNP Set Association Analysis for Genome-Wide Association Studies

Genome-Wide Association Study for Cytokines and Immunoglobulin G in Swine

Genome-Wide Association Study of Relative Telomere Length

Genome-Wide Association Study of Proneness to Anger

Weighted SNP Set Analysis in Genome-Wide Association Study

Genome-Wide Association Study of Parity in Bangladeshi Women

Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population

Genome-Wide Association Study Link Novel Loci to Endometriosis

Multicentric Genome-Wide Association Study for Primary Spontaneous Pneumothorax