中国人群中口吃候选基因 GNPTAB、GNPTG 和 NAGPA 与阅读障碍的关联研究。
Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population.
机构信息
State Key Laboratory of Proteomics, Beijing Proteome Research Center, Beijing Institute of Radiation Medicine, Beijing, 102206, China.
National Engineering Research Center for Beijing Biochip Technology, Beijing, 102206, China.
出版信息
BMC Genet. 2015 Feb 3;16:7. doi: 10.1186/s12863-015-0172-5.
BACKGROUND
Dyslexia is a polygenic speech and language disorder characterized by an unexpected difficulty in reading in children and adults despite normal intelligence and schooling. Increasing evidence reveals that different speech and language disorders could share common genetic factors. As previous study reported association of GNPTAB, GNPTG and NAGPA with stuttering, we investigated these genes with dyslexia through association analysis.
RESULTS
The study was carried out in an unrelated Chinese cohort with 502 dyslexic individuals and 522 healthy controls. In all, 21 Tag SNPs covering GNPTAB, GNPTG and NAGPA were subjected to genotyping. Association analysis was performed on all SNPs. Significant association of rs17031962 in GNPTAB and rs882294 in NAGPA with developmental dyslexia was identified after FDR correction for multiple comparisons.
CONCLUSION
Our results revealed that the stuttering risk genes GNPTAB and NAGPA might also associate with developmental dyslexia in the Chinese population.
背景
阅读障碍是一种多基因言语和语言障碍，其特征是儿童和成人在正常智力和受教育程度下出现意料之外的阅读困难。越来越多的证据表明，不同的言语和语言障碍可能存在共同的遗传因素。由于之前的研究报告 GNPTAB、GNPTG 和 NAGPA 与口吃有关，我们通过关联分析研究了这些基因与阅读障碍的关系。
结果
本研究在中国一个无关联的队列中进行，共有 502 名阅读障碍个体和 522 名健康对照。总共对涵盖 GNPTAB、GNPTG 和 NAGPA 的 21 个 Tag SNP 进行了基因分型。对所有 SNP 进行了关联分析。在进行多重比较的 FDR 校正后，发现 GNPTAB 中的 rs17031962 和 NAGPA 中的 rs882294 与发展性阅读障碍显著相关。
结论
我们的研究结果表明，口吃风险基因 GNPTAB 和 NAGPA 也可能与中国人群的发展性阅读障碍有关。
Zotero 插件