openSNP | rs11200638

Links to SNPedia

Title	Summary
rs11200638 A/A	~10x increased risk of wet age related macular degeneration
rs11200638 G/G	Normal
rs11200638 A/G	~2x increased risk of age related macular degeneration

Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).

Publications on this SNP on the Public Library of Science:

First Author	Title	Year of Publication	# of readers
Jingjing Jiang	Overexpression of HTRA1 Leads to Down-Regulation of Fibronectin and Functional Changes in RF/6A Cells and HUVECs	2012	2785
Yong Cheng	Genetic and Functional Dissection of ARMS2 in Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy	2013	4147
Isao Nakata	Association between the SERPING1 Gene and Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in Japanese	2011	2357
Stuart Cantsilieris	Comprehensive Analysis of Copy Number Variation of Genes at Chromosome 1 and 10 Loci Associated with Late Age Related Macular Degeneration	2012	3388
Elizabeth G. Holliday	Insights into the Genetic Architecture of Early Stage Age-Related Macular Degeneration: A Genome-Wide Association Study Meta-Analysis	2013	7062
Zhao-Yang Wang	Systematic Review and Meta-Analysis of the Association between Complement Factor H I62V Polymorphism and Risk of Polypoidal Choroidal Vasculopathy in Asian Populations	2014	3308
Anne E Hughes	Neovascular Age-Related Macular Degeneration Risk Based on CFH, LOC387715/HTRA1, and Smoking	2007	7679
Gergely Losonczy	Effect of the Gas6 c.834+7G>A Polymorphism and the Interaction of Known Risk Factors on AMD Pathogenesis in Hungarian Patients	2012	3401
Felix Grassmann	Modelling the Genetic Risk in Age-Related Macular Degeneration	2012	6029
Han Chen	Association between Variant Y402H in Age-Related Macular Degeneration (AMD) Susceptibility Gene CFH and Treatment Response of AMD: A Meta-Analysis	2012	4786
Sanna P. Seitsonen	Multifactor Effects and Evidence of Potential Interaction between Complement Factor H Y402H and LOC387715 A69S in Age-Related Macular Degeneration	2008	3864
Zhenglin Yang	Genetic and Functional Dissection of HTRA1 and LOC387715 in Age-Related Macular Degeneration	2010	7152
Arnald Alonso	GStream: Improving SNP and CNV Coverage on Genome-Wide Association Studies	2013	4371
Se Joon Woo	Analysis of Genetic and Environmental Risk Factors and Their Interactions in Korean Patients with Age-Related Macular Degeneration	2015	2045

Publications on this SNP on Mendeley

First Author	Title	Pub. Year	# of Readers	DOI
Gergely Losonczy	Analysis of complement factor H Y402H, LOC387715, HTRA1 polymorphisms and ApoE alleles with susceptibility to age-related macular degeneration in Hungarian patients.	2011	2	10.1111/j.1755-3768.2009.01687.x
Nicolas Leveziel	Genotype-phenotype correlations for exudative age-related macular degeneration associated with homozygous HTRA1 and CFH genotypes.	2008	4	10.1167/iovs.07-1540
Norimoto Gotoh	Correlation between CFH Y402H and HTRA1 rs11200638 genotype to typical exudative age-related macular degeneration and polypoidal choroidal vasculopathy phenotype in the Japanese population.	2008	1	-
Zhenglin Yang	Genetic and Functional Dissection of HTRA1 and LOC387715 in Age-Related Macular Degeneration	2010	1	-
Y A Tong	LOC387715/HTRA1 gene polymorphisms and susceptibility to agerelated macular degeneration: A HuGE review and meta-analysis	2010	1	-
Fang Lu	HTRA1 variant increases risk to neovascular age-related macular degeneration in Chinese population.	2007	3	-
K Mori	Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population	2007	1	-
Zhenglin Yang	Science (New York, N.Y.)	2006	1	10.1126/science.1133811
Zhenglin Yang	Genetic and Functional Dissection of <italic>HTRA1</italic> and <italic>LOC387715</italic> in Age-Related Macular Degeneration	2010	1
D Joshua Cameron	HTRA1 variant confers similar risks to geographic atrophy and neovascular age-related macular degeneration.	2007	1	-
Tomohiko Urano	Association of HTRA1 promoter polymorphism with spinal disc degeneration in Japanese women.	2010	2	-
Chi-Chao Chan	Human HtrA1 in the archived eyes with age-related macular degeneration.	2007	5	-
F Lu	HTRA1 variant increases risk to neovascular age-related macular degeneration in Chinese population	2007	2	S0042-6989(07)00356-2 [pii]\r10.1016/j.visres.2007.08.010
Chi-Chao Chan	Human HtrA1 in the archived eyes with age-related macular degeneration.	2007	7
Norimoto Gotoh	Correlation between CFH Y402H and HTRA1 rs11200638 genotype to typical exudative age-related macular degeneration and polypoidal choroidal vasculopathy phenotype in the Japanese population.	2008	4	10.1111/j.1442-9071.2008.01791.x
Daniel Gibbs	Further mapping of 10q26 supports strong association of HTRA1 polymorphisms with age-related macular degeneration.	2008	5	-
Wen Chen	Meta-analysis of the association of the HTRA1 polymorphisms with the risk of age-related macular degeneration.	2009	5	-
Fang Lu	HTRA1 variant increases risk to neovascular age-related macular degeneration in Chinese population.	2007	4	10.1016/j.visres.2007.08.010
Zhenglin Yang	Science (New York, N.Y.)	2006	1	10.1126/science.1133811
Yu Tong	Band-structure effects in field-emission energy distribution in tungsten	2010	1
André N Tiaden	A detrimental role for human high temperature requirement serine protease A1 (HTRA1) in the pathogenesis of intervertebral disc (IVD) degeneration	2012	7	10.1074/jbc.M112.341032
Haoyu Chen	Association of HTRA1 polymorphism and bilaterality in advanced age-related macular degeneration.	2008	9	10.1016/j.visres.2007.10.014
Haoyu Chen	Genetic and Functional Dissection of HTRA1 and LOC387715 in Age-Related Macular Degeneration	2010	1	10.1371/journal.pgen.1000836
Norimoto Gotoh	Haplotype analysis of the ARMS2/HTRA1 region in Japanese patients with typical neovascular age-related macular degeneration or polypoidal choroidal vasculopathy.	2010	2	10.1007/s10384-010-0865-2
Zhenglin Yang	A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration.	2006	49	10.1126/science.1133811
Zhenglin Yang	Genetic and Functional Dissection of HTRA1 and LOC387715 in Age-Related Macular Degeneration	2010	18	10.1371/journal.pgen.1000836
A. N. Tiaden	Detrimental Role for Human High Temperature Requirement Serine Protease A1 (HTRA1) in the Pathogenesis of Intervertebral Disc (IVD) Degeneration	2012	8	10.1074/jbc.M112.341032
Tomohiko Urano	Association of HTRA1 promoter polymorphism with spinal disc degeneration in Japanese women.	2010	6	10.1007/s00774-009-0124-0
Daniel Gibbs	Further mapping of 10q26 supports strong association of HTRA1 polymorphisms with age-related macular degeneration.	2008	9	10.1016/j.visres.2007.10.022
Norimoto Gotoh	Haplotype analysis of the ARMS2/HTRA1 region in Japanese patients with typical neovascular age-related macular degeneration or polypoidal choroidal vasculopathy.	2010	0	-
S Khandhadia	Chlamydia infection status, genotype, and age-related macular degeneration	2012	1	-
Zhenglin Yang	Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration.	2010	20	10.1371/journal.pgen.1000836
Andrea J Richardson	An intergenic region between the tagSNP rs3793917 and rs11200638 in the HTRA1 gene indicates association with age-related macular degeneration.	2010	7	10.1167/iovs.09-5114
Zhenglin Yang	Science (New York, N.Y.)	2006	1	10.1126/science.1133811
Zhenglin Yang	A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration.	2006	1	10.1126/science.1133811
Atsuhiro Kanda	Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina	2010	12
Keisuke Mori	Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population.	2007	3	10.1007/s10038-007-0162-1
Gergely Losonczy	Analysis of complement factor H Y402H, LOC387715, HTRA1 polymorphisms and ApoE alleles with susceptibility to age-related macular degeneration in Hungarian patients.	2011	5	10.1111/j.1755-3768.2009.01687.x
Wen Chen	Meta-analysis of the association of the HTRA1 polymorphisms with the risk of age-related macular degeneration.	2009	10	10.1016/j.exer.2008.10.017
Lisa Pahl	1,25-Dihydroxyvitamin D decreases HTRA1 promoter activity in the rhesus monkey - a plausible explanation for the influence of vitamin D on age-related macular degeneration?	2013	1	10.1016/j.exer.2013.09.012
Haoyu Chen	Association of HTRA1 polymorphism and bilaterality in advanced age-related macular degeneration.	2008	5	-
Nicolas Leveziel	Genotype-phenotype correlations for exudative age-related macular degeneration associated with homozygous HTRA1 and CFH genotypes.	2008	2	-
Sam Khandhadia	Chlamydia infection status, genotype, and age-related macular degeneration	2012	5
Z Yang	Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration	2010	2	10.1371/journal.pgen.1000836
Gaofeng Wang	Genotype at polymorphism rs11200638 and HTRA1 expression level.	2010	0	-
M Nishio	CH/π Interaction: Implications in Organic Chemistry.	1989	8	10.1016/S0040-4020(01)89185-7
Keisuke Mori	[Association of M299V variant in ELOVL4 gene with exudative age-related macular degeneration in a Chinese population].	2007	0	-
Zhenglin Yang	A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration.	2006	33	-

Evidence compiled by the Personal Genome Project

There are no results from the Personal Genome Project yet. Please come back later.

Publications listed by Genome.gov

First Author	Title	Journal	Publication Date	Trait	p-value	Confidence Interval
Dewan A	HTRA1 promoter polymorphism in wet age-related macular degeneration.	Science	10/19/2006	Age-related macular degeneration (wet)	8.0e-12	[0.71-3.61]

Name	rs11200638
Chromosome	10
Position	122461028
Weight of evidence	93

SNP rs11200638

Basic Information

Genotype Frequency

Allele Frequency

Additional Information

Links to SNPedia

Publications on this SNP on the Public Library of Science:

Publications on this SNP on Mendeley

Evidence compiled by the Personal Genome Project

Publications listed by Genome.gov

Users who share this SNP:

Genome Browser

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