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

Zhen Zhen Zhao, Zhen Zhao, Dale R Nyholt, Lien Le, Long Ho Le, Shane Thomas, Christian Engwerda, Louise Randall, Louise M. Randall, Susan A Treloar, Grant W Montgomery
Human Reproduction · 2007 · vol. 22(9) , pp. 2389–2397 · doi:10.1093/humrep/dem182 · PMID:17595314 · W2117477598
article OA: bronze CC0 ⤵ 20 in-corpus citations
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This study analyzed 26 single-nucleotide polymorphisms and haplotypes in the TNF/LTA region in Australian endometriosis cases and controls and found no association.

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Abstract

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: Our data suggest both TNF and LTA genes are not major susceptibility genes for endometriosis.

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Endometriosis Lymphotoxin-alpha Polymorphism, Single Nucleotide Tumor Necrosis Factor-alpha Australia Base Sequence Endometriosis Female Gene Frequency Humans Lymphotoxin-alpha Promoter Regions, Genetic Tumor Necrosis Factor-alpha

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