Primer: SNP-associated studies and what they can teach us
Primer: SNP-associated studies and what they can teach us
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DOI：
10.1038/ncprheum0757
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发表时间：
2008-04
期刊：
影响因子：
--
通讯作者：
R. Yamada
中科院分区：
文献类型：
--
作者：
R. Yamada
单核苷酸多态性 (SNP) 是 DNA 序列中的单碱基对改变，代表遗传异质性的主要来源。已经有成熟且复杂的技术来测量和分析 SNP 的存在，而 SNP 基因分型是研究其他遗传变异的重要工具。基于 SNP 的大规模全基因组关联研究正在检测许多多态性，这些多态性可用于评估各种常见特征的风险，包括风湿病。在不久的将来，对遗传风险的了解可能会被用来改进风湿病诊所的医疗护理。
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.