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Primer: SNP-associated studies and what they can teach us

Abstract

Single-nucleotide polymorphisms (SNPs) are single base-pair alterations in the DNA sequence that represent a major source of genetic heterogeneity. Well-developed and sophisticated technologies exist to measure and analyze the presence of SNPs, and SNP genotyping is an important tool with which to investigate other genetic variants. SNP-based, large-scale, genome-wide association studies are detecting many polymorphisms that can be used to evaluate the risk of various common traits, including rheumatic diseases. This increased knowledge of genetic risk could potentially be used to refine medical care in rheumatology clinics in the near future.

Key Points

  • Single-nucleotide polymorphisms (SNPs) are the major source of genetic heterogeneity in human beings

  • Large-scale genome-wide association studies are being carried out to identify disease-related genes and their risk polymorphisms

  • Large-scale genome-wide association studies use SNPs as genetic markers

  • Linkage disequilibrium among SNPs is the phenomenon that enables disease-related genes to be identified using marker SNPs

  • Current genome-wide association studies use several hundreds of thousands SNPs for thousands of cases and controls

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Figure 1: Genetic variants in humans.
Figure 2: Relationship between DNA and phenotype for coding and noncoding genes.
Figure 3: Linkage and linkage disequilibrium.

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Acknowledgements

The author thanks the Japan Society for the Promotion of Science and the Ministry of Health, Labour and Welfare in Japan for financial support, as well as members of the Laboratory of Functional Genomics and the Laboratory for Rheumatic Diseases, SNP Research Center, RIKEN, Japan, for their advice and discussion.

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Yamada, R. Primer: SNP-associated studies and what they can teach us. Nat Rev Rheumatol 4, 210–217 (2008). https://doi.org/10.1038/ncprheum0757

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