Evaluation of replication of variants associated with genetic risk of otitis media.

Evaluation of replication of variants associated with genetic risk of otitis media.
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DOI:
10.1371/journal.pone.0104212
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发表时间:
2014
期刊:
影响因子:
3.7
通讯作者:
Sale MM
Sale MM
中科院分区:
综合性期刊3区
文献类型:
--
作者:
Allen EK;Manichaikul A;Chen WM;Rich SS;Daly KA;Sale MM

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第一项中耳炎 (OM) 全基因组关联研究 (GWAS) 在西澳大利亚妊娠队列 (Raine) 研究中发现了相关证据,但在独立的 OM 群体中缺乏重复。本研究的目的是调查我们基于家庭的慢性渗出性中耳炎和复发性中耳炎 (COME/ROM) 样本中这些位点的关联。常染色体 SNP 选自 Raine OM GWAS 结果。在 COME/ROM 的 GWAS 中对 Raine 队列 GWAS 进行基因分型的 SNP 的 P 值范围为 P = 0.06–0.80。去除之前在 COME/ROM 的 GWAS 中进行基因分型的 SNP (N = 21) 和 Fluidigm 分析设计失败的 SNP (N = 1) 后,我们的 COME/ROM 家族群体的 716 名个体中的 26 个 SNP 成功进行了基因分型。在我们以家庭为基础的人群中,没有一个 SNP 关联得到复制(未经调整的 P = 0.03–0.93)。在独立样本中进行复制将证实这些代表新的 OM 位点,并且有必要进行进一步的研究。
The first Genome Wide Association Study (GWAS) of otitis media (OM) found evidence of association in the Western Australian Pregnancy Cohort (Raine) study, but lacked replication in an independent OM population. The aim of this study was to investigate association at these loci in our family-based sample of chronic otitis media with effusion and recurrent otitis media (COME/ROM). Autosomal SNPs were selected from the Raine OM GWAS results. SNPs from the Raine cohort GWAS genotyped in our GWAS of COME/ROM had P-values ranging from P = 0.06–0.80. After removal of SNPs previously genotyped in our GWAS of COME/ROM (N = 21) and those that failed Fluidigm assay design (N = 1), 26 SNPs were successfully genotyped in 716 individuals from our COME/ROM family population. None of the SNP associations replicated in our family-based population (unadjusted P = 0.03–0.93). Replication in an independent sample would confirm that these represent novel OM loci, and that further investigation is warranted.
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