Genetic variation in tumour necrosis factor and lymphotoxin is not associated with endometriosis in an Australian sample

Zhao, Zhen Zhen, Nyholt, Dale R., Le, Lien, Thomas, Shane, Engwerda, Christian, Randall, Louise, Treloar, Susan A., & Montgomery, Grant W. (2007) Genetic variation in tumour necrosis factor and lymphotoxin is not associated with endometriosis in an Australian sample. Human Reproduction, 22(9), pp. 2389-2397.

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Tumour necrosis factor (TNF) is a pleiotropic cytokine with a wide range of immunoregulatory effects. Variation in the promoter region of TNF and the neighbouring lymphotoxin alpha (LTA) gene might be associated with endometriosis.


We examined the association between endometriosis and common single-nucleotide polymorphisms (SNPs) or haplotypes in the TNF/LTA region in an Australian sample by analysing 26 SNPs in 958 endometriosis cases and 959 unrelated controls. We selected functional SNPs in the coding and the promoter region of the TNF gene and HapMap tagging SNPs and typed them on a Sequenom MassARRAY platform. A key SNP (rs1800630) in the promoter region typed in previous studies did not give reliable results. Therefore, we also examined a statistically identical (r(2) = 1) SNP (siSNP) (rs2844482), identified using the web based program ssSNPer.


Genotype completion rate was 99.5% for SNPs spanning a region of 15.5 kb across the TNF/LTA locus. There was no evidence for association between endometriosis and TNF/LTA SNPs or SNP haplotypes in our case-control study.


Our data suggest both TNF and LTA genes are not major susceptibility genes for endometriosis.

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22 citations in Scopus
20 citations in Web of Science®
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ID Code: 92147
Item Type: Journal Article
Refereed: Yes
Keywords: Australia, Base Sequence, Endometriosis/*genetics, Female, Gene Frequency, Humans, Lymphotoxin-alpha/*genetics, *Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Tumor Necrosis Factor-alpha/*genetics
DOI: 10.1093/humrep/dem182
ISSN: 0268-1161
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2007 The Authors
Deposited On: 27 Jan 2016 22:48
Last Modified: 26 Jun 2017 21:01

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