Publication

Genotype-phenotype correlation of age-related macular degeneration: influence of complement factor H polymorphism

2008
Journal Articles

Abstract

Background/aims: Complement factor H ( CFH) Y402H polymorphism shows a strong association with age-related macular degeneration (AMD). Although the phenotypic concordance of AMD has been shown in sibling/twin studies, little is known about the genotype phenotype association. In this study, we investigated whether CFH Y402H is associated with early phenotypic features.

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2008
Journal Articles

Abstract

Official source

Related concepts (20)

Macular degeneration

Macular degeneration, also known as age-related macular degeneration (AMD or ARMD), is a medical condition which may result in blurred or no vision in the center of the visual field. Early on there are often no symptoms. Over time, however, some people experience a gradual worsening of vision that may affect one or both eyes. While it does not result in complete blindness, loss of central vision can make it hard to recognize faces, drive, read, or perform other activities of daily life. Visual hallucinations may also occur.

Genotype-first approach

The genotype-first approach is a type of strategy used in genetic epidemiological studies to associate specific genotypes to apparent clinical phenotypes of a complex disease or trait. As opposed to “phenotype-first”, the traditional strategy that has been guiding genome-wide association studies (GWAS) so far, this approach characterizes individuals first by a statistically common genotype based on molecular tests prior to clinical phenotypic classification.

Heritability

Heritability is a statistic used in the fields of breeding and genetics that estimates the degree of variation in a phenotypic trait in a population that is due to genetic variation between individuals in that population. The concept of heritability can be expressed in the form of the following question: "What is the proportion of the variation in a given trait within a population that is not explained by the environment or random chance?" Other causes of measured variation in a trait are characterized as environmental factors, including observational error.

Related publications (27)

Genotype-phenotype correlation of age-related macular degeneration: influence of complement factor H polymorphism

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