A sex-stratified genome-wide association study of tuberculosis using a multi-ethnic genotyping array

Simple item page
dc.contributor.authorSchurz, Haikoen_ZA
dc.contributor.authorKinnear, Craig J.en_ZA
dc.contributor.authorGignoux, Chrisen_ZA
dc.contributor.authorWojcik, Genevieveen_ZA
dc.contributor.authorVan Helden, Paul D.en_ZA
dc.contributor.authorTromp, Gerarden_ZA
dc.contributor.authorHenn, Brennaen_ZA
dc.contributor.authorHoal, Eileen G.en_ZA
dc.contributor.authorMoller, Marloen_ZA
dc.date.accessioned2019-02-25T12:52:35Zen_ZA
dc.date.available2019-02-25T12:52:35Z
dc.date.issued2019
dc.descriptionCITATION: Schurz, H., et al. 2019. A sex-stratified genome-wide association study of tuberculosis using a multi-ethnic genotyping array. Frontiers in Genetics, 9:678, doi:10.3389/fgene.2018.00678.
dc.descriptionThe original publication is available at https://www.frontiersin.org
dc.descriptionPublication of this article was funded by the Stellenbosch University Open Access Fund.
dc.description.abstractTuberculosis (TB), caused by Mycobacterium tuberculosis, is a complex disease with a known human genetic component. Males seem to be more affected than females and in most countries the TB notification rate is twice as high in males than in females. While socio-economic status, behavior and sex hormones influence the male bias they do not fully account for it. Males have only one copy of the X chromosome, while diploid females are subject to X chromosome inactivation. In addition, the X chromosome codes for many immune-related genes, supporting the hypothesis that X-linked genes could contribute to TB susceptibility in a sex-biased manner. We report the first TB susceptibility genome-wide association study (GWAS) with a specific focus on sex-stratified autosomal analysis and the X chromosome. A total of 810 individuals (410 cases and 405 controls) from an admixed South African population were genotyped using the Illumina Multi Ethnic Genotyping Array, specifically designed as a suitable platform for diverse and admixed populations. Association testing was done on the autosome (8,27,386 variants) and X chromosome (20,939 variants) in a sex stratified and combined manner. SNP association testing was not statistically significant using a stringent cut-off for significance but revealed likely candidate genes that warrant further investigation. A genome wide interaction analysis detected 16 significant interactions. Finally, the results highlight the importance of sex-stratified analysis as strong sex-specific effects were identified on both the autosome and X chromosome.en_ZA
dc.description.urihttps://www.frontiersin.org/articles/10.3389/fgene.2018.00678/full
dc.description.versionPublisher's version
dc.format.extent13 pages
dc.identifier.citationSchurz, H., et al. 2019. A sex-stratified genome-wide association study of tuberculosis using a multi-ethnic genotyping array. Frontiers in Genetics, 9:678, doi:10.3389/fgene.2018.00678
dc.identifier.issn1664-8021(online)
dc.identifier.otherdoi:10.3389/fgene.2018.00678
dc.identifier.urihttp://hdl.handle.net/10019.1/105468
dc.language.isoen_ZAen_ZA
dc.publisherFrontiers Media
dc.rights.holderAuthors retain copyright
dc.subjectTuberculosisen_ZA
dc.subjectMycobacterium tuberculosisen_ZA
dc.subjectMycobacteriumen_ZA
dc.subjectMycobacterial diseasesen_ZA
dc.titleA sex-stratified genome-wide association study of tuberculosis using a multi-ethnic genotyping arrayen_ZA
dc.typeArticleen_ZA
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
schurz_sex_2019.pdf
Size:
577.55 KB
Format:
Adobe Portable Document Format
Description:
Download article
Download
License bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
Research Articles (Molecular Biology and Human Genetics)