LOC387715/HTRA1 and complement factor H variants in patients with age-related macular degeneration seen at the mayo clinic

Jose S. Pulido; Lisa M. Peterson; Lejla Mutapcic; Sandra Bryant; W. Edward Highsmith

doi:10.1080/13816810701649617

LOC387715/HTRA1 and complement factor H variants in patients with age-related macular degeneration seen at the mayo clinic

Jose S. Pulido, Lisa M. Peterson, Lejla Mutapcic, Sandra Bryant, W. Edward Highsmith

Research output: Contribution to journal › Article › peer-review

16 Scopus citations

Abstract

Purpose: To confirm association of the complement factor H allelic variant (CFH Y402H) and the LOC387715/HTRA1 (LOC387715 A69S) risk alleles with age-related macular degeneration (AMD). Study Population: Study of 89 Caucasian patients with neovascular (exudative) AMD and 232 Caucasian controls. Methods: The Y402H variant of CFH gene and A69S variant of LOC387715/HTRA1 gene locus were examined. Results: For CFH, the odds ratio for the homozygous variant was 4.97 (CI 2.52 to 9.79). For LOC387715/HTRA1 the odds ratio for the homozygous risk variant was 7.75 (CI 3.46 to 17.35). The odds ratio for heterozygous carriers was 3.35 (CI 1.91 to 5.90).

Original language	English (US)
Pages (from-to)	203-207
Number of pages	5
Journal	Ophthalmic Genetics
Volume	28
Issue number	4
DOIs	https://doi.org/10.1080/13816810701649617
State	Published - Oct 2007

Keywords

Age-related macular degeneration
Association study
Complement H
Genetics

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Ophthalmology
Genetics(clinical)

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10.1080/13816810701649617

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@article{0fe34277a83548f580f3107af91a5144,

title = "LOC387715/HTRA1 and complement factor H variants in patients with age-related macular degeneration seen at the mayo clinic",

abstract = "Purpose: To confirm association of the complement factor H allelic variant (CFH Y402H) and the LOC387715/HTRA1 (LOC387715 A69S) risk alleles with age-related macular degeneration (AMD). Study Population: Study of 89 Caucasian patients with neovascular (exudative) AMD and 232 Caucasian controls. Methods: The Y402H variant of CFH gene and A69S variant of LOC387715/HTRA1 gene locus were examined. Results: For CFH, the odds ratio for the homozygous variant was 4.97 (CI 2.52 to 9.79). For LOC387715/HTRA1 the odds ratio for the homozygous risk variant was 7.75 (CI 3.46 to 17.35). The odds ratio for heterozygous carriers was 3.35 (CI 1.91 to 5.90).",

keywords = "Age-related macular degeneration, Association study, Complement H, Genetics",

author = "Pulido, {Jose S.} and Peterson, {Lisa M.} and Lejla Mutapcic and Sandra Bryant and Highsmith, {W. Edward}",

note = "Funding Information: The authors thank John A. Heit for helpful commentary. This work was supported in part by an unrestricted grant from Research to Prevent Blindness Inc, New York, New York.",

year = "2007",

month = oct,

doi = "10.1080/13816810701649617",

language = "English (US)",

volume = "28",

pages = "203--207",

journal = "Ophthalmic Genetics",

issn = "1381-6810",

publisher = "Informa Healthcare",

number = "4",

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TY - JOUR

T1 - LOC387715/HTRA1 and complement factor H variants in patients with age-related macular degeneration seen at the mayo clinic

AU - Pulido, Jose S.

AU - Peterson, Lisa M.

AU - Mutapcic, Lejla

AU - Bryant, Sandra

AU - Highsmith, W. Edward

N1 - Funding Information: The authors thank John A. Heit for helpful commentary. This work was supported in part by an unrestricted grant from Research to Prevent Blindness Inc, New York, New York.

PY - 2007/10

Y1 - 2007/10

N2 - Purpose: To confirm association of the complement factor H allelic variant (CFH Y402H) and the LOC387715/HTRA1 (LOC387715 A69S) risk alleles with age-related macular degeneration (AMD). Study Population: Study of 89 Caucasian patients with neovascular (exudative) AMD and 232 Caucasian controls. Methods: The Y402H variant of CFH gene and A69S variant of LOC387715/HTRA1 gene locus were examined. Results: For CFH, the odds ratio for the homozygous variant was 4.97 (CI 2.52 to 9.79). For LOC387715/HTRA1 the odds ratio for the homozygous risk variant was 7.75 (CI 3.46 to 17.35). The odds ratio for heterozygous carriers was 3.35 (CI 1.91 to 5.90).

AB - Purpose: To confirm association of the complement factor H allelic variant (CFH Y402H) and the LOC387715/HTRA1 (LOC387715 A69S) risk alleles with age-related macular degeneration (AMD). Study Population: Study of 89 Caucasian patients with neovascular (exudative) AMD and 232 Caucasian controls. Methods: The Y402H variant of CFH gene and A69S variant of LOC387715/HTRA1 gene locus were examined. Results: For CFH, the odds ratio for the homozygous variant was 4.97 (CI 2.52 to 9.79). For LOC387715/HTRA1 the odds ratio for the homozygous risk variant was 7.75 (CI 3.46 to 17.35). The odds ratio for heterozygous carriers was 3.35 (CI 1.91 to 5.90).

KW - Age-related macular degeneration

KW - Association study

KW - Complement H

KW - Genetics

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JO - Ophthalmic Genetics

JF - Ophthalmic Genetics

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LOC387715/HTRA1 and complement factor H variants in patients with age-related macular degeneration seen at the mayo clinic

Abstract

Keywords

ASJC Scopus subject areas

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