Genome‐wide association study and polygenic risk score analysis for hearing measures in children

Schmitz, Judith; Abbondanza, Filippo; Paracchini, Silvia

doi:10.1002/ajmg.b.32873

Cited by 8 publications

(6 citation statements)

References 85 publications

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“…Our self-reported dyslexia diagnosis binary trait showed strong negative genetic correlations with quantitative reading and spelling measures, supporting the validity of this measure in the 23andMe cohort, and suggesting that reading skills and disorder are not qualitatively distinct. The positive genetic correlation between hearing difficulties and dyslexia is consistent with genetic correlations reported for childhood reading skill 42 , suggesting that hearing problems at an early age could affect acquisition of phonological processing skills.…”

Section: Discussionsupporting

confidence: 82%

Discovery of 42 genome-wide significant loci associated with dyslexia

Doust

Fontanillas²,

Eising³

et al. 2022

Nat Genet

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Reading and writing are crucial life skills but roughly one in ten children are affected by dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70%, yet few convincing genetic markers have been found. Here we performed a genome-wide association study of 51,800 adults self-reporting a dyslexia diagnosis and 1,087,070 controls and identified 42 independent genome-wide significant loci: 15 in genes linked to cognitive ability/educational attainment, and 27 new and potentially more specific to dyslexia. We validated 23 loci (13 new) in independent cohorts of Chinese and European ancestry. Genetic etiology of dyslexia was similar between sexes, and genetic covariance with many traits was found, including ambidexterity, but not neuroanatomical measures of language-related circuitry. Dyslexia polygenic scores explained up to 6% of variance in reading traits, and might in future contribute to earlier identification and remediation of dyslexia.

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Section: Discussionsupporting

confidence: 82%

Discovery of 42 genome-wide significant loci associated with dyslexia

Doust

Fontanillas²,

Eising³

et al. 2022

Nat Genet

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“…Next, the Enhancing Neuro Imaging Genetics through Meta-Analysis (ENIGMA) consortium estimated a total of 63 traits with significant genetic correlates with dyslexia. The ENIGMA Consortium in a study has identified a positive genetic correlation between hearing difficulties and dyslexia, which is consistent with the genetic correlations reported for childhood reading ability, and which suggests that hearing problems at an early age could influence the acquisition of phonological processing skills [ 34 ]. Another example of a genetic correlation with dyslexia involves equal use of the hands, but not left-handed, supporting theories linking ambidexterity and dyslexia [ 35 ].…”

Section: Introductionsupporting

confidence: 59%

Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families

Calì,

Di Blasi,

Avola

et al. 2023

Medicina

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Background and Objectives: Specific Learning Disorder (SLD) is a complex neurobiological disorder characterized by a persistent difficult in reading (dyslexia), written expression (dysgraphia), and mathematics (dyscalculia). The hereditary and genetic component is one of the underlying causes of SLD, but the relationship between genes and the environment should be considered. Several genetic studies were performed in different populations to identify causative genes. Materials and Methods: Here, we show the analysis of 9 multiplex families with at least 2 individuals diagnosed with SLD per family, with a total of 37 persons, 21 of whom are young subjects with SLD, by means of Next-Generation Sequencing (NGS) to identify possible causative mutations in a panel of 15 candidate genes: CCPG1, CYP19A1, DCDC2, DGKI, DIP2A, DYM, GCFC2, KIAA0319, MC5R, MRPL19, NEDD4L, PCNT, PRMT2, ROBO1, and S100B. Results: We detected, in eight families out nine, SNP variants in the DGKI, DIP2A, KIAA0319, and PCNT genes, even if in silico analysis did not show any causative effect on this behavioral condition. In all cases, the mutation was transmitted by one of the two parents, thus excluding the case of de novo mutation. Moreover, the parent carrying the allelic variant transmitted to the children, in six out of seven families, reports language difficulties. Conclusions: Although the present results cannot be considered conclusive due to the limited sample size, the identification of genetic variants in the above genes can provide input for further research on the same, as well as on other genes/mutations, to better understand the genetic basis of this disorder, and from this perspective, to better understand also the neuropsychological and social aspects connected to this disorder, which affects an increasing number of young people.

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“…The association between hearing impairment and ADHD may be explained in several ways. First, specific genes were shown to be involved in both ADHD and hearing impairment (22). Second, compromised communication abilities negatively affect behavior and are associated with an increased risk for mental health disorders such as ADHD (10,14,23).…”

Section: Discussionmentioning

confidence: 99%

Hearing Impairment and Severe Attention Deficit/Hyperactivity Disorder: A Nationwide Study

Tsur,

Zloof,

Rittblat

et al. 2024

Otol Neurotol

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Background The association between hearing impairment and attention-deficit/hyperactivity disorder (ADHD) is unclear. Therefore, we aimed to assess this association in Israel's national sample of over 1.1 million adolescents. Methods We conducted a nationwide, population-based, cross-sectional study of all Israeli adolescents (n = 1,175,534, 58% males; mean age, 17 yrs) who were examined before mandatory military service during 2004 to 2020. Board-certified specialists confirmed diagnoses of hearing impairment and severe ADHD. Main Outcomes and Measures We compared the prevalence of severe ADHD in adolescents with and without hearing impairment. Associations were analyzed using logistic regression models and sensitivity analyses accounting for hearing impairment type (sensorineural vs. conductive) and severity. Results Of the 8,769 adolescents with hearing impairment, 57 were diagnosed with severe ADHD (prevalence = 0.65%). Of the 1,166,765 adolescents without hearing impairment, 3,936 were diagnosed with severe ADHD (prevalence = 0.29%). We found a significant association between hearing impairment and severe ADHD (odds ratio = 1.93 [95% confidence interval, 1.47–2.49]), which persisted in a multivariable model adjusted to age, sex, socioeconomic status, educational status, cognitive performance, and immigration status (odds ratio = 1.70 [95% confidence interval, 1.29–2.20]). The association also persisted when stratified by hearing impairment type (sensorineural vs. conductive) and severity. Conclusions Adolescents with hearing impairment had 70% increased odds of severe ADHD. Study findings suggest that active screening of patients with hearing impairment for ADHD should be considered.

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Genome‐wide association study and polygenic risk score analysis for hearing measures in children

Cited by 8 publications

References 85 publications

Discovery of 42 genome-wide significant loci associated with dyslexia

Discovery of 42 genome-wide significant loci associated with dyslexia

Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families

Hearing Impairment and Severe Attention Deficit/Hyperactivity Disorder: A Nationwide Study

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