Epidemiological population studies highlight the presence of substantial individual variability in reading skill, with approximately 5-10% of individuals characterized as having specific reading disability (SRD). Despite reported substantial heritability, typical for a complex trait, the specifics of the connections between reading and the genome are not understood. Recently, the SETBP1 gene has been implicated in several complex neurodevelopmental syndromes and disorders that impact language. Here, we examined the relationship between common polymorphisms in this gene, reading, and reading associated behaviors using data from an ongoing project on the genetic basis of SRD (n = 135). In addition, an exploratory analysis was conducted to examine the relationship between SETBP1 and brain activation using functional magnetic resonance imaging (fMRI; n = 73). Gene-based analyses revealed a significant association between SETBP1 and phonological working memory, with rs7230525 as the strongest associated single nucleotide polymorphism (SNP). fMRI analysis revealed that the rs7230525-T allele is associated with functional neural activation during reading and listening to words and pseudowords in the right inferior parietal lobule (IPL). These findings suggest that common genetic variation within SETBP1 is associated with reading behavior and reading-related brain activation patterns in the general population.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6542718 | PMC |
| http://dx.doi.org/10.1016/j.neuropsychologia.2018.07.015 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Whole‑exome sequencing insights into synchronous bilateral breast cancer with discordant molecular subtypes.
Oncol Lett
December 2024
Department of Pathology, The First Affiliated Hospital of Dali University, Dali, Yunnan 671000, P.R. China.
The incidence of synchronous bilateral breast cancer (SBBC) is very low, and SBBC with discordant molecular subtypes is even more uncommon. As such, little is known about the pathogenesis of SBBC with discordant molecular subtypes, and reports about this entity are scarce. In the present study, the case of a 72-year-old female patient who presented with SBBC with discordant molecular subtypes is reported, with a stage IA hormone receptor negative {human epidermal growth factor receptor-2 [HER2(+)]} tumor in the left breast and a stage IIIA hormone sensitive tumor [HER2(-)] in the right breast.
View Article and Find Full Text PDFIntegrating Genomics and Transcriptomics to Identify Candidate Genes for Egg Production in Taihe Black-Bone Silky Fowls ().
Int J Mol Sci
August 2024
College of Animal Science, Zhejiang University, Hangzhou 310058, China.
The Taihe Black-Bone Silky Fowl () possesses significant value in terms of consumption, medicinal applications, and ornamental appeal, representing a precious genetic resource and traditional Chinese medicinal material. However, considerable variation exists within populations regarding egg-laying performance. This study integrates a whole-genome selection signal analysis (SSA) with a transcriptome analysis to identify genes associated with egg-laying traits in Taihe Black-Bone Silky Fowls.
View Article and Find Full Text PDF[Genetic Variation of in Patients with Myeloid Neoplasms].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
August 2024
Department of Hematology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China.E-mail:
Article Synopsis
- - The study aimed to analyze genetic variations in patients with myeloid neoplasms by reviewing targeted DNA sequencing data from 1,005 patients over five years at a specific hospital.
- - Out of the patients, 19 had identified gene mutations, primarily consisting of missense mutations, with a notable mutation (p.Ile568Thr) being the most frequent and detected in several patients with different conditions.
- - The findings revealed a diverse range of genetic mutation sites in myeloid neoplasms, suggesting variability but a low recurrence rate of specific mutations, highlighting the complexity of these diseases.
Genetic Alterations in a Large Population of Italian Patients Affected by Neurodevelopmental Disorders.
Genes (Basel)
March 2024
CEINGE-Biotecnologie Avanzate Franco Salvatore, via G. Salvatore 486, 80145 Naples, Italy.
Neurodevelopmental disorders are a group of complex multifactorial disorders characterized by cognitive impairment, communication deficits, abnormal behaviour, and/or motor skills resulting from abnormal neural development. Copy number variants (CNVs) are genetic alterations often associated with neurodevelopmental disorders. We evaluated the diagnostic efficacy of the array-comparative genomic hybridization (a-CGH) method and its relevance as a routine diagnostic test in patients with neurodevelopmental disorders for the identification of the molecular alterations underlying or contributing to the clinical manifestations.
View Article and Find Full Text PDFConstruction of a risk stratification model integrating ctDNA to predict response and survival in neoadjuvant-treated breast cancer.
BMC Med
December 2023
Breast Cancer Center, Shandong Cancer Hospital and Institute, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, 250117, Shandong, China.
Background: The pathological complete response (pCR) to neoadjuvant chemotherapy (NAC) of breast cancer is closely related to a better prognosis. However, there are no reliable indicators to accurately identify which patients will achieve pCR before surgery, and a model for predicting pCR to NAC is required.
Methods: A total of 269 breast cancer patients in Shandong Cancer Hospital and Liaocheng People's Hospital receiving anthracycline and taxane-based NAC were prospectively enrolled.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!