Complement factor H polymorphism p.Tyr402His and cuticular Drusen.

Complement factor H polymorphism p.Tyr402His and cuticular Drusen. Research Abstract Details 

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Complement factor H polymorphism p.Tyr402His and cuticular Drusen. Abstract Text:

Michael A Grassi,James C Folk,Todd E Scheetz,Christine M Taylor,Val C Sheffield,Edwin M Stone,

OBJECTIVE: To determine the histidine frequency in patients with the cuticular drusen phenotype of age-related macular degeneration (AMD). METHODS: Fifty individuals were identified who met the criteria for the cuticular drusen phenotype using a standard threshold photograph. We genotyped DNA samples using a polymerase chain reaction-based restriction digest assay. Seven hundred individuals with typical AMD and 252 controls were also genotyped. Fisher exact test was used to analyze the significance of allele frequency differences. RESULTS: The histidine variant was present in 70% (frequency +/- SE, 0.70 +/- 0.05) of the cuticular cohort, 55% (frequency +/- SE, 0.55 +/- 0.01) of the more typical AMD cases, and 34% (frequency +/- SE, 0.34 +/- 0.02) of controls. The association between the cuticular drusen phenotype and the histidine allele was highly significant (P = .003; odds ratio, 2.0; 95% confidence interval, 1.21-3.07; vs AMD cases P<.001; odds ratio 4.54; 95% confidence interval, 2.79-7.50; vs controls). Genotype distribution between the 3 groups was similarly significant (P<.001). CONCLUSION: The cuticular drusen phenotype is highly associated with the Tyr402His variant of the complement factor H (CFH) gene. The significantly higher histidine allele frequency in this group compared with the typical AMD cohort suggests that the complement cascade may play a greater role in the pathogenesis of the cuticular drusen subtype than in AMD as a whole. CLINICAL RELEVANCE: The c.1204T>C, p.Tyr402His allelic variant in the CFH gene is associated with a 3-fold increased risk for AMD. A high frequency of the histidine allele has also been noted in patients with membranoproliferative glomerulonephritis type II.

Complement factor H polymorphism p.Tyr402His and cuticular Drusen. Publishing Authors By Initials

MA Grassi,JC Folk,TE Scheetz,CM Taylor,VC Sheffield,EM Stone,

For similar eye diseases: retinal diseases: retinal degeneration: retinal drusen research abstracts see: eye diseases: retinal diseases: retinal degeneration: retinal drusen research

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Complement factor H polymorphism p.Tyr402His and cuticular Drusen. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Archives of ophthalmology

VOLUME: 125

Page Numbers: 93-7

Journal Abbreviation: Arch. Ophthalmol.

ISSN: 0003-9950

DAY: 3

MONTH: Jan

YEAR: 2007

Complement factor H polymorphism p.Tyr402His and cuticular Drusen. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 7706534

Complement factor H polymorphism p.Tyr402His and cuticular Drusen. Keywords Mesh Terms:

KEYWORDS: Retinal Drusen

MESH TERMS: genetics

Chemical & Substance for Abstract: Complement factor H polymorphism p.Tyr402His and cuticular Drusen. Information

Substance Name: Complement Factor H

Registry Number: 80295-65-4

Grant and Affiliation Information for Complement factor H polymorphism p.Tyr402His and cuticular Drusen.

AFFILIATION: Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, USA.

Country: United States

AGENCY: United States NEI

GRANT: EY016822

ACRONYM: EY

MEDLINETA: Arch Ophthalmol

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