Taiwanese Journal of Obstetrics and Gynecology
Volume 48, Issue 2 , Pages 89-95, June 2009

A Genome-Wide Association Study Primer for Clinicians

  • Tzu-Hao Wang

      Affiliations

    • Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital and Chang Gung University, Tao-Yuan, Taiwan
    • Genomic Medicine Research Core Laboratory, Chang Gung Memorial Hospital, Chang Gung University, Tao-Yuan, Taiwan
    • Graduate Institute of Basic Medical Sciences, Chang Gung University, Tao-Yuan, Taiwan
    • ,
  • Hsin-Shih Wang

      Affiliations

    • Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital and Chang Gung University, Tao-Yuan, Taiwan
    • Graduate Institute of Clinical Medical Sciences, Chang Gung University, Tao-Yuan, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Hsin-Shih Wang, Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital and Chang Gung University, 5, Fu-Shin Road, Gwei-Shan, Tao-Yuan 333, Taiwan

Accepted 29 April 2009.

Article Outline

Summary 

Genome-wide association studies (GWAS) use high-throughput genotyping technology to relate hundreds of thousands of genetic markers (genotypes) to clinical conditions and measurable traits (phenotypes). This review is intended to serve as an introduction to GWAS for clinicians, to allow them to better appreciate the value and limitations of GWAS for genotype-disease association studies. The input of clinicians is vital for GWAS, since disease heterogeneity is frequently a confounding factor that can only really be solved by clinicians. For diseases that are difficult to diagnose, clinicians should ensure that the cases do indeed have the disease; for common diseases, clinicians should ensure that the controls are truly disease-free.

Key Words:  copy number variation , genome-wide association studies , genotype , linkage disequilibrium , phenotype , single nucleotide polymorphisms

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PII: S1028-4559(09)60265-5

doi:10.1016/S1028-4559(09)60265-5

Taiwanese Journal of Obstetrics and Gynecology
Volume 48, Issue 2 , Pages 89-95, June 2009

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