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Nat Clin Pract Rheumatol. 2008 Apr;4(4):210-7. doi: 10.1038/ncprheum0757. Epub 2008 Mar 4.

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

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1
Laboratory of Functional Genomics at the Human Genome Center, Institute of Medical Science, University of Tokyo, Japan. ryamada@src.riken.go.jp

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.

PMID:
18319711
DOI:
10.1038/ncprheum0757
[Indexed for MEDLINE]
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