An intergenic region between the tagSNP rs3793917 and rs11200638 in the HTRA1 gene indicates association with age-related macular degeneration

Article


Richardson, Andrea J., Islam, F. M. Amirul, Aung, Khin Zaw, Guymer, Robyn H. and Baird, Paul N.. 2010. "An intergenic region between the tagSNP rs3793917 and rs11200638 in the HTRA1 gene indicates association with age-related macular degeneration." Investigative Ophthalmology and Visual Science. 51 (10), pp. 4932-4936. https://doi.org/10.1167/iovs.09-5114
Article Title

An intergenic region between the tagSNP rs3793917 and rs11200638 in the HTRA1 gene indicates association with age-related macular degeneration

ERA Journal ID16286
Article CategoryArticle
AuthorsRichardson, Andrea J. (Author), Islam, F. M. Amirul (Author), Aung, Khin Zaw (Author), Guymer, Robyn H. (Author) and Baird, Paul N. (Author)
Journal TitleInvestigative Ophthalmology and Visual Science
Journal Citation51 (10), pp. 4932-4936
Number of Pages5
Year2010
PublisherAssociation for Research in Vision and Ophthalmology (ARVO)
Place of PublicationRockville, MD. United States
ISSN0146-0404
1552-5783
Digital Object Identifier (DOI)https://doi.org/10.1167/iovs.09-5114
Web Address (URL)http://www.iovs.org/content/51/10/4932.full.pdf+html
Abstract

Purpose. There is still a debate as to whether the LOC387715 or HTRA1 genes represent the key significant association identified with age-related macular degeneration (AMD) on the long arm of chromosome 10, region 26.
Methods. An Australian patient cohort was genotyped by using tagged single nucleotide polymorphisms (tSNPs) to identify a causal SNP within this region.
Results. Multiple tSNPs across the region showed association with AMD with the tSNP rs3793917 (odds ratio [OR], 3.45; 95% confidence interval [CI], 2.36–5.05, P = 2.8 × 10−13) having the highest association with AMD. This tSNP occurred in the intergenic region between the LOC387715 and HTRA1 genes. A second tSNP rs2672587 (OR, 2.92; 95% CI, 2.04–4.17; P = 7.7 × 10−11) located in intron 1 of the HTRA1 gene had the second highest association with AMD. After logistic regression analysis, the only tSNP to survive covariate testing was rs3793917, which occurred in the same LD block as the HTRA1 promoter SNP rs11200638 (r2 = 0.88, D′ = 0.97).
Conclusions. The findings indicate that the intergenic region between the tSNP rs3793917 and the SNP rs11200638 in the HTRA1 gene is the most likely site explaining the significant association with AMD.

Keywordsaged; choroidal neovascularization; intergenic DNA; genotype; geographic atrophy; linkage (genetics); macular degeneration; serine endopeptidases
ANZSRC Field of Research 2020310506. Gene mapping
420301. Aged health care
321204. Vision science
Public Notes

© Association for Research in Vision and Ophthalmology. Permanent restricted access to published version in accordance with the copyright policy of the publisher.

Byline AffiliationsUniversity of Melbourne
Department of Mathematics and Computing
Institution of OriginUniversity of Southern Queensland
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