一种用于全基因组关联研究的基于基因的新型关联测试。
A new gene-based association test for genome-wide association studies.
作者信息
Buil Alfonso, Martinez-Perez Angel, Perera-Lluna Alexandre, Rib Leonor, Caminal Pere, Soria Jose Manuel
机构信息
Unitat de Genomica de Malalties Complexes, Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau, Barcelona, 08025, Spain.
出版信息
BMC Proc. 2009 Dec 15;3 Suppl 7(Suppl 7):S130. doi: 10.1186/1753-6561-3-s7-s130.
Abstract
Genome-wide association studies are widely used today to discover genetic factors that modify the risk of complex diseases. Usually, these methods work in a SNP-by-SNP fashion. We present a gene-based test that can be applied in the context of genome-wide association studies. We compare both strategies, SNP-based and gene-based, in a sample of cases and controls for rheumatoid arthritis.We obtained different results using each strategy. The SNP-based test found the PTPN22 gene while the gene-based test found the PHF19-TRAF1-C5 region. That suggests that no single strategy performs better than another in all cases and that a certain underlying genetic architecture can be delineated more easily with one strategy rather than with another.
摘要
如今，全基因组关联研究被广泛用于发现影响复杂疾病风险的遗传因素。通常，这些方法以逐个单核苷酸多态性（SNP）的方式进行。我们提出了一种基于基因的检验方法，可应用于全基因组关联研究。我们在类风湿性关节炎的病例和对照样本中比较了基于SNP和基于基因这两种策略。使用每种策略我们都获得了不同的结果。基于SNP的检验发现了PTPN22基因，而基于基因的检验发现了PHF19 - TRAF1 - C5区域。这表明在所有情况下，没有一种单一策略比另一种表现得更好，并且某种潜在的遗传结构可能用一种策略比用另一种策略更容易描绘出来。
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