Related Experiment Video
Updated: Jul 18, 2026
06:41
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Simulations provide support for the common disease-common variant hypothesis.
1Department of Statistics, Rice University, Houston, Texas 77005, USA. bpeng@mdanderson.org
Genetics
|December 8, 2006
Summary
The common disease-common variant (CDCV) hypothesis is supported by population simulations, suggesting common diseases are often influenced by a few common genetic variants. This finding aids in mapping complex diseases.
Area of Science:
- Genetics
- Population Genetics
- Computational Biology
Background:
- Gene mapping for complex diseases relies on understanding susceptibility allele frequency and number.
- The common disease-common variant (CDCV) hypothesis posits that common diseases are caused by a few common alleles.
Purpose of the Study:
- To investigate the impact of genetic and demographic factors on human disease allelic spectra.
- To evaluate the validity of the CDCV hypothesis using population simulations.
Main Methods:
- Forward-time population simulations were employed.
- Two models (Reich and Lander, Pritchard) were used as a basis.
- Factors analyzed included demography, mutation, population structure, migration, and locus interactions.
Main Results:
- Population simulations support the CDCV hypothesis.
- Transient demographic effects, particularly population expansion, drive this phenomenon.
- A multilocus generalization of the Reich and Lander model was developed.
Conclusions:
- The CDCV hypothesis is largely valid for complex diseases.
- Demographic history significantly shapes the genetic architecture of diseases.
- Understanding locus interactions is crucial for complex disease mapping.
Related Concept Videos
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
02:26Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
01:27Principles of Pharmacogenetics: Types of Genetic Variants
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
01:33Pleiotropy
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,...
01:29Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...