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Related Concept Videos

Genetic Lingo01:11

Genetic Lingo

Overview
Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Hardy-Weinberg Principle01:49

Hardy-Weinberg Principle

Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.In the early 20th century,...
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...

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Related Experiment Video

Updated: Jul 11, 2026

Enrichment of Bruch's Membrane from Human Donor Eyes
10:22

Enrichment of Bruch's Membrane from Human Donor Eyes

Published on: November 15, 2015

Complement factor H polymorphism in age-related macular degeneration.

Robert J Klein1, Caroline Zeiss, Emily Y Chew

  • 1Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA.

Science (New York, N.Y.)
|March 12, 2005
PubMed
Summary
This summary is machine-generated.

A common variant in the complement factor H gene (CFH) strongly associates with age-related macular degeneration (AMD). Individuals with two copies of the risk allele have a 7.4 times higher likelihood of developing AMD.

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Area of Science:

  • Genetics
  • Ophthalmology
  • Molecular Biology

Background:

  • Age-related macular degeneration (AMD) is a leading cause of vision loss in older adults.
  • Genetic factors are implicated in AMD pathogenesis, necessitating identification of risk variants.

Purpose of the Study:

  • To conduct a genome-wide screen to identify genetic polymorphisms associated with AMD.
  • To pinpoint specific variants within genes that confer risk for AMD development.

Main Methods:

  • Genome-wide genotyping of 116,204 single-nucleotide polymorphisms (SNPs) in 96 AMD cases and 50 controls.
  • Association analysis to identify SNPs significantly linked to AMD status.
  • Resequencing to characterize the identified risk variant and its protein-level effects.

Main Results:

  • A common intronic variant in the complement factor H gene (CFH) showed a strong association with AMD (P < 10(-7)).
  • Homozygosity for the risk allele increased AMD likelihood by 7.4-fold.
  • A linked polymorphism resulted in a tyrosine-to-histidine change at amino acid 402 in the CFH protein, a region involved in heparin and C-reactive protein binding.

Conclusions:

  • The identified CFH gene variant is a significant genetic risk factor for age-related macular degeneration.
  • The CFH Y402H polymorphism may contribute to AMD pathogenesis through altered protein interactions.
  • This finding reinforces the role of the complement system in AMD and highlights the CFH gene's importance.