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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

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...
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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...
Single Nucleotide Polymorphisms-SNPs01:05

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,...

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Related Experiment Video

Updated: Jun 8, 2026

Adipocyte-Specific ATAC-Seq with Adipose Tissues Using Fluorescence-Activated Nucleus Sorting
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Adiponectin concentrations: a genome-wide association study.

Sun Ha Jee1, Jae Woong Sull, Jong-Eun Lee

  • 1Department of Epidemiology and Health Promotion, Institute for Health Promotion, Graduate School of Public Health, Yonsei University, Seoul 102-752, South Korea. jsunha@yuhs.ac

American Journal of Human Genetics
|October 5, 2010
PubMed
Summary
This summary is machine-generated.

This genome-wide association study identified a key genetic variant, rs3865188 in CDH13, significantly influencing adiponectin levels in Korean adults. This finding advances understanding of adiponectin regulation and its links to obesity and insulin resistance.

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Area of Science:

  • Genetics
  • Metabolic Disease Research
  • Human Population Studies

Background:

  • Adiponectin levels are linked to obesity and insulin resistance.
  • No prior genome-wide association studies (GWAS) on adiponectin levels have been conducted in Asian populations.
  • Understanding genetic determinants of adiponectin is crucial for metabolic health research.

Purpose of the Study:

  • To conduct the first GWAS of adiponectin levels in a Korean population.
  • To identify genetic variants associated with adiponectin concentration.
  • To explore the functional impact of identified variants on adiponectin expression.

Main Methods:

  • A two-stage GWAS design involving 4,001 Korean subjects.
  • Genome-wide genotyping using a comprehensive marker panel.
  • Replication studies with an additional 2,304 subjects to validate top genetic associations.
  • Reporter assays to assess the functional effect of a specific single nucleotide polymorphism (SNP) on gene expression.

Main Results:

  • The single nucleotide polymorphism rs3865188 in the CDH13 gene showed a highly significant association with adiponectin levels across discovery and replication stages (meta-analysis p = 2.82 × 10(-83)).
  • This association was even stronger for high-molecular-weight adiponectin.
  • A CDH13 promoter SNP, in linkage disequilibrium with rs3865188, demonstrated a 2.2-fold increase in gene expression driven by the major allele.

Conclusions:

  • Genetic variants within the CDH13 gene significantly influence adiponectin levels in Korean adults.
  • The identified SNP rs3865188 is a major determinant of adiponectin concentration in this population.
  • This study provides novel insights into the genetic regulation of adiponectin and its potential role in metabolic diseases.