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Related Experiment Video

Updated: Jul 3, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Complement factor H variant p.Y402H in pseudoxanthoma elasticum patients.

Christian Götting¹, Doris Hendig, Ralf Zarbock

¹Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen, Universitätsklinik der Ruhr-Universität Bochum, Bad Oeynhausen, Germany. cgoetting@hdz-nrw.de

Genetic Testing

|July 17, 2008

Summary

This summary is machine-generated.

This study investigated the CFH variant c.1277T > C (p.Y402H) as a potential genetic risk factor for Pseudoxanthoma elasticum (PXE). Researchers found no significant association, indicating this variant does not increase PXE risk.

Related Experiment Videos

Last Updated: Jul 3, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Area of Science:

Genetics
Ophthalmology
Dermatology

Background:

Pseudoxanthoma elasticum (PXE) is an inherited disorder impacting eyes, skin, and vasculature.
PXE shares ocular manifestations like subretinal neovascularization with age-related macular degeneration (AMD).
A specific complement factor H (CFH) variant (c.1277T > C, p.Y402H) is a known AMD risk factor.

Purpose of the Study:

To determine if the CFH c.1277T > C (p.Y402H) variant is a secondary genetic risk factor for PXE.
To analyze the association between this CFH variant and PXE development.

Main Methods:

Genotyping of the CFH c.1277T > C (p.Y402H) variant in 189 German PXE patients and 189 matched controls.
Statistical analysis of allelic frequencies and genotype distributions.
Assessment for associations adjusted for clinical factors like age, sex, and hypertension.

Main Results:

Allelic frequencies of the CFH c.1277T > C (p.Y402H) variant did not differ significantly between PXE patients and controls.
No significant associations were found between the variant and PXE, even after adjusting for multiple clinical factors.
No genotype-phenotype correlation was detected in PXE patients.

Conclusions:

The CFH variant c.1277T > C (p.Y402H) is not a genetic risk factor for Pseudoxanthoma elasticum.
This finding helps clarify the genetic landscape of PXE and its relationship with AMD genetic factors.