Microsatellite genome-wide association study for mandibular prognathism
Microsatellite genome-wide association study for mandibular prognathism
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DOI：
10.1016/j.ajodo.2014.01.022
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发表时间：
2014-06-01
影响因子：
3
通讯作者：
Iida, Junichiro
中科院分区：
文献类型：
--
作者：
Ikuno, Keiichiro;Kajii, Takashi S.;Iida, Junichiro
简介：人们曾尝试通过全基因组连锁研究来寻找下颌骨无突症的易感基因，但各易感位点的结果不一致。目前还没有全基因组关联的下颌骨无颌症的研究。我们的目的是使用23，465个微卫星标记进行全基因组关联研究，以检测下颌骨多突症的易感区域。研究方法：该研究基于合并DNA方法，包括全基因组筛选和随后的个体基因分型的2个步骤，其中240例实验受试者和360例对照受试者来自日本人群。结果如下：在染色体1q32.2（D1 S1358 i：P = 4.22 × 10（-4））和1p22.3（D1 S 0411 i：P = 6.66 × 10（-4））上显示了两个提示的关联，PLXNA 2和SSX 2 IP被认为是候选基因; 1p22.3位于先前连锁分析所指示的区域的两侧。结论：全基因组关联分析结果表明，1q32.2和1p22.3可能是下颌无突症的易感区域，1p32.2是一个新的位点，1p22.3的发现支持了先前的连锁分析结果。
Introduction: Attempts have been made to identify susceptibility genes of mandibular prognathism by genome-wide linkage studies, but the results of susceptibility loci are inconsistent. There has been no genome-wide association study of mandibular prognathism. Our objective was to perform a genome-wide association study using 23,465 microsatellite markers to detect mandibular prognathism susceptibility regions. Methods: The study was based on the pooled DNA method, including 2 steps of screening on the whole genome and subsequent individual genotyping, with 240 experimental subjects and 360 control subjects from the Japanese population. Results: Two suggestive associations on chromosomes 1q32.2 (D1S1358i: P = 4.22 x 10(-4)) and 1p22.3 (D1S0411i: P = 6.66 x 10(-4)) were shown, and PLXNA2 and SSX2IP were suggested to be candidate genes; 1p22.3 flanked the region indicated by previous linkage analysis. Conclusions: The results of the genome-wide association study showed that 2 loci (1q32.2 and 1p22.3) are likely to be susceptibility regions of mandibular prognathism: 1p32.2 is a novel locus, and identification of 1p22.3 supports the results of previous linkage analysis.