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Quantitative genome-wide association analyses of receptive language in the Danish High Risk and Resilience Study
BMC Neuroscience ( IF 2.4 ) Pub Date : 2020-07-07 , DOI: 10.1186/s12868-020-00581-5
Ron Nudel 1, 2 , Camilla A J Christiani 2, 3 , Jessica Ohland 2, 3 , Md Jamal Uddin 2, 3, 4 , Nicoline Hemager 2, 3 , Ditte Ellersgaard 2, 3 , Katrine S Spang 2, 5 , Birgitte K Burton 2, 5 , Aja N Greve 2, 6 , Ditte L Gantriis 2, 6 , Jonas Bybjerg-Grauholm 2, 7 , Jens Richardt M Jepsen 2, 3, 5, 8 , Anne A E Thorup 2, 5 , Ole Mors 2, 6 , Thomas Werge 1, 2, 9 , Merete Nordentoft 2, 3, 9
Affiliation  

Background One of the most basic human traits is language. Linguistic ability, and disability, have been shown to have a strong genetic component in family and twin studies, but molecular genetic studies of language phenotypes are scarce, relative to studies of other cognitive traits and neurodevelopmental phenotypes. Moreover, most genetic studies examining such phenotypes do not incorporate parent-of-origin effects, which could account for some of the heritability of the investigated trait. We performed a genome-wide association study of receptive language, examining both child genetic effects and parent-of-origin effects. Results Using a family-based cohort with 400 children with receptive language scores, we found a genome-wide significant paternal parent-of-origin effect with a SNP, rs11787922, on chromosome 9q21.31, whereby the T allele reduced the mean receptive language score by ~ 23, constituting a reduction of more than 1.5 times the population SD (P = 1.04 × 10 −8 ). We further confirmed that this association was not driven by broader neurodevelopmental diagnoses in the child or a family history of psychiatric diagnoses by incorporating covariates for the above and repeating the analysis. Conclusions Our study reports a genome-wide significant association for receptive language skills; to our knowledge, this is the first documented genome-wide significant association for this phenotype. Furthermore, our study illustrates the importance of considering parent-of-origin effects in association studies, particularly in the case of cognitive or neurodevelopmental traits, in which parental genetic data are not always incorporated.

中文翻译:

丹麦高风险和复原力研究中接受性语言的定量全基因组关联分析

背景 人类最基本的特征之一是语言。在家庭和双胞胎研究中,语言能力和残疾已被证明具有很强的遗传成分,但相对于其他认知特征和神经发育表型的研究,语言表型的分子遗传学研究很少。此外,大多数检查此类表型的遗传学研究并未纳入亲本效应,这可以解释所研究性状的某些遗传性。我们对接受性语言进行了全基因组关联研究,检查了儿童遗传效应和父母来源效应。结果 使用包含 400 名具有接受性语言评分的儿童的家庭队列,我们​​发现染色体 9q21.31 上的 SNP rs11787922 存在全基因组显着的父本效应,T 等位基因由此降低了平均接受性语言得分约 23,减少了总体 SD 的 1.5 倍以上 (P = 1.04 × 10 -8 )。通过合并上述协变量并重复分析,我们进一步证实这种关联并不是由儿童更广泛的神经发育诊断或精神病诊断家族史驱动的。结论 我们的研究报告了接受性语言技能在全基因组范围内的显着关联;据我们所知,这是第一个有记录的该表型在全基因组范围内的显着关联。此外,我们的研究说明了在关联研究中考虑父母来源效应的重要性,特别是在认知或神经发育特征的情况下,其中父母遗传数据并不总是被纳入。
更新日期:2020-07-07
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