当前位置: X-MOL 学术Am. J. Med. Genet. B Neuropsychiatr. Genet. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Genome-wide association study and polygenic risk score analysis for hearing measures in children
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics ( IF 1.6 ) Pub Date : 2021-09-03 , DOI: 10.1002/ajmg.b.32873
Judith Schmitz 1 , Filippo Abbondanza 1 , Silvia Paracchini 1
Affiliation  

An efficient auditory system contributes to cognitive and psychosocial development. A right ear advantage in hearing thresholds (HTs) has been described in adults and atypical patterns of left/right hearing threshold asymmetry (HTA) have been described for psychiatric and neurodevelopmental conditions. Previous genome-wide association studies (GWASs) on HT have mainly been conducted in elderly participants whose hearing is more likely to be affected by external environmental factors. Here, we investigated HT and HTA in a children population cohort (ALSPAC, n = 6,743). Better hearing was associated with better cognitive performance and higher socioeconomic status. At the group level, HTA suggested a left ear advantage (mean = −0.28 dB) that was mainly driven by females. SNP heritability for HT and HTA was 0.13 and 0.02, respectively (n = 4,989). We found a modest negative genetic correlation between HT and reading ability. GWAS for HT (n = 5,344) did not yield significant hits but polygenic risk scores for higher educational attainment (EA, ß = −1,564.72, p = .008) and schizophrenia (ß = −241.14, p = .004) were associated with lower HT, that is, better hearing. In summary, we report new data supporting associations between hearing measures and cognitive abilities at the behavioral level. Genetic analysis suggests shared biological pathways between cognitive and sensory systems and provides evidence for a positive outcome of genetic risk for schizophrenia.

中文翻译:

儿童听力测量的全基因组关联研究和多基因风险评分分析

有效的听觉系统有助于认知和心理发展。成人的右耳听力阈值 (HT) 具有优势,并且左/右听力阈值不对称 (HTA) 的非典型模式已被描述为精神和神经发育疾病。此前关于 HT 的全基因组关联研究(GWAS)主要针对老年人,他们的听力更容易受到外部环境因素的影响。在这里,我们调查了儿童群体 (ALSPAC,n  = 6,743) 中的 HT 和 HTA。更好的听力与更好的认知表现和更高的社会经济地位相关。在群体层面,HTA 表明左耳优势(平均值 = -0.28 dB)主要由女性驱动。HT 和 HTA 的 SNP 遗传力分别为 0.13 和 0.02 ( n  = 4,989)。我们发现 HT 和阅读能力之间存在适度的负遗传相关性。HT 的 GWAS(n  = 5,344)没有产生显着的命中,但较高教育程度(EA,ß = -1,564.72,p  = .008)和精神分裂症(ß = -241.14,p  = .004)的多基因风险评分与HT 越低,即听力越好。总之,我们报告了支持听力测量与行为层面认知能力之间关联的新数据。遗传分析表明认知和感觉系统之间存在共同的生物学途径,并为精神分裂症遗传风险的积极结果提供了证据。
更新日期:2021-09-17
down
wechat
bug