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Genome-wide Association Studies-GWAS

Genome-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...

Human Genetics

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.
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Polygenic Traits

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...

Polygenic Traits

Polygenic Traits

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Single Nucleotide Polymorphisms-SNPs

Single 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,...

Heritability

Heritability

Heritability is a statistical concept that measures the degree to which genetic differences among individuals contribute to trait variations within a population. It is a fundamental idea in genetics, often prone to misinterpretation. Heritability is expressed as a percentage, reflecting the proportion of variation in a specific trait across a population that can be linked to genetic differences. However, it's important to understand that heritability does not determine how "genetic" a trait is,...

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Related Experiment Video

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Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization

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A genomewide admixture mapping panel for Hispanic/Latino populations.

Xianyun Mao¹, Abigail W Bigham, Rui Mei

¹Department of Anthropology, The Pennsylvania State University, University Park, PA 16801, USA.

American Journal of Human Genetics

|May 16, 2007

Summary

Researchers developed a new genomewide admixture mapping panel with 2,120 ancestry-informative markers. This tool aids in identifying genetic risk factors for diseases in Native American and European admixed populations.

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Published on: January 9, 2020

Area of Science:

Genetics
Population Genetics
Genomic Medicine

Background:

Admixture mapping (AM) identifies genetic risk factors for complex traits in admixed populations.
Existing AM panels are suitable for African Americans but not for Hispanic/Latino populations.
Hispanic/Latino populations exhibit complex Native American, European, and West African admixture.

Purpose of the Study:

To develop a genomewide admixture mapping panel for Native American and European ancestry.
To facilitate genetic risk factor discovery in admixed American populations.

Main Methods:

Genotyping a panel of 2,120 ancestry-informative markers (AIMs) using the Affymetrix GeneChip Human Mapping 500K array.
Selecting AIMs based on high frequency differences between Native American and European populations.
Utilizing European, Mesoamerican (Maya, Nahua), and South American (Aymara/Quechua) samples for marker selection.

Main Results:

A genomewide AM panel of 2,120 AIMs was created with an average intermarker genetic distance of ~1.7 cM.
Markers demonstrated high information content for Native American/European ancestry (high f value).
Selected markers showed minimal frequency differences between Mesoamerican and South American samples.

Conclusions:

The developed AM panel enables the application of admixture mapping in diverse admixed populations across the Americas.
This resource will advance the identification of genetic determinants of complex diseases in these populations.