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Imputation of SNPs associated with presbycusis through linkage disequilibrium analysis in the ILDR1 gene
Journal of Genetics ( IF 1.5 ) Pub Date : 2023-01-10 , DOI: 10.1007/s12041-022-01416-4
Sergio V. Flores , Alejandro Levi-Monsalve , Juan Pablo Álvarez-Lobo

The single-nucleotide polymorphisms (SNP) ILDR1 rs2332035 has shown a high statistical association with presbycusis (hearing loss with age or age-related hearing impairment (ARHI)), according to genetic association studies in European populations. However, linked markers have not been surveyed. Here linkage disequilibrium (LD) of markers in ILDR1, in relation to rs2332035, is explored in the 2504 individuals from the 1000Genomes database. Of the 920 SNPs retrieved, 10 showed strong LD (r2 ≥ 0.8) in Europeans and Latin Americans, which are proposed here as candidate markers for both control–case association and cause-effect studies in both populations.



中文翻译:

通过 ILDR1 基因的连锁不平衡分析估算与老年性耳聋相关的 SNP

根据欧洲人群的遗传关联研究,单核苷酸多态性 (SNP) ILDR1 rs2332035 显示出与老年性耳聋(听力损失与年龄或与年龄相关的听力障碍 (ARHI))的高度统计关联。但是,尚未对连锁标记进行调查。在 1000Genomes 数据库的 2504 个个体中探索了 ILDR1 中与 rs2332035 相关的标记的连锁不平衡 (LD)。在检索到的 920 个 SNP 中,有 10 个在欧洲人和拉丁美洲人中显示出强 LD ( r 2 ≥ 0.8),在此建议将其作为两个人群中对照病例关联和因果研究的候选标记。

更新日期:2023-01-10
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