Dataset Information

Association, characterisation and meta-analysis of SNPs linked to general reading ability in a German dyslexia case-control cohort.

ABSTRACT: Dyslexia is a severe disorder in the acquisition of reading and writing. Several studies investigated the role of genetics for reading, writing and spelling ability in the general population. However, many of the identified SNPs were not analysed in case-control cohorts. Here, we investigated SNPs previously linked to reading or spelling ability in the general population in a German case-control cohort. Furthermore, we characterised these SNPs for functional relevance with in silico methods and meta-analysed them with previous studies. A total of 16 SNPs within five genes were included. The total number of risk alleles was higher in cases than in controls. Three SNPs were nominally associated with dyslexia: rs7765678 within DCDC2, and rs2038137 and rs6935076 within KIAA0319. The relevance of rs2038137 and rs6935076 was further supported by the meta-analysis. Functional profiling included analysis of tissue-specific expression, annotations for regulatory elements and effects on gene expression levels (eQTLs). Thereby, we found molecular mechanistical implications for 13 of all 16 included SNPs. SNPs associated in our cohort showed stronger gene-specific eQTL effects than non-associated SNPs. In summary, our results validate SNPs previously linked to reading and spelling in the general population in dyslexics and provide insights into their putative molecular pathomechanisms.

SUBMITTER: Muller B

PROVIDER: S-EPMC4911550 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature

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Association, characterisation and meta-analysis of SNPs linked to general reading ability in a German dyslexia case-control cohort.

Müller Bent B Wilcke Arndt A Czepezauer Ivonne I Ahnert Peter P Boltze Johannes J Kirsten Holger H

Scientific reports 20160617

Dyslexia is a severe disorder in the acquisition of reading and writing. Several studies investigated the role of genetics for reading, writing and spelling ability in the general population. However, many of the identified SNPs were not analysed in case-control cohorts. Here, we investigated SNPs previously linked to reading or spelling ability in the general population in a German case-control cohort. Furthermore, we characterised these SNPs for functional relevance with in silico methods and ...[more]

PMID: 27312598

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Project description:PurposeDevelopmental dyslexia in alphabetic languages (DD) is characterized by a phonological deficit. Since logographic scripts rely predominantly on visual and morphological processing, reading performance in DD can be assumed to be less impaired when reading logographic scripts.Methods40 German-speaking children (18 with DD, 22 not reading-impaired-group C; 9-11 years) received Chinese lessons. Eye movements (EM) were recorded during naming single alphabetic words, pictures (confrontational) and Chinese characters to be named in German and Chinese. The main outcome variables were: Articulation latency, numbers and durations of fixations. Quality of life (QoL) was assessed by questionnaires.ResultsWhile reading alphabetic words, articulation latencies and numbers of fixations were significantly higher for group DD than for group C (AL-DD = 1.13, AL-C = 0.84, p< .001; FN-DD = 3.50; FN-C = 2.00, p< .001). For naming pictures and Chinese characters in German and in Chinese, no significant group differences were found for any of the EM variables. The percentage of correct answers was high for German naming (DD = 86.67%, C = 95.24%; p = .015) and lower for Chinese naming in both groups, but significantly lower in group DD, especially for Chinese naming (DD = 56.67%, C: 83.77%; p = .003). QoL differed between groups from the children's perspective only at posttest. Parents of group DD perceived their children`s QoL to be lower compared with parents of group C at pre- and posttest.ConclusionsChildren with dyslexia performed as well as group C during naming Chinese characters in German and in Chinese regarding their EM variables, presumably because they processed Chinese characters by the visuo-spatial pathway with direct access to the semantic system. However, the significantly lower percentage of correct answers especially during Chinese naming showed that group DD had more difficulties naming Chinese characters than group C, which could be attributed to their phonological deficit, among other factors.Trial registrationGerman clinical trials register (DRKS00015697).

Project description:Functional magnetic resonance imaging studies have reported reduced activation in parietotemporal and occipitotemporal areas in adults and children with developmental dyslexia compared to controls during reading and reading related tasks. These patterns of regionally reduced activation have been linked to behavioral impairments of reading-related processes (e.g., phonological skills and rapid automatized naming). The observed functional and behavioral differences in individuals with developmental dyslexia have been complemented by reports of reduced gray matter in left parietotemporal, occipitotemporal areas, fusiform and lingual gyrus and the cerebellum. An important question for education is whether these neural differences are present before reading is taught. Developmental dyslexia can only be diagnosed after formal reading education starts. However, here we investigate whether the previously detected gray matter alterations in adults and children with developmental dyslexia can already be observed in a small group of pre-reading children with a family-history of developmental dyslexia compared to age and IQ-matched children without a family-history (N = 20/mean age: 5:9 years; age range 5:1-6:5 years). Voxel-based morphometry revealed significantly reduced gray matter volume indices for pre-reading children with, compared to children without, a family-history of developmental dyslexia in left occipitotemporal, bilateral parietotemporal regions, left fusiform gyrus and right lingual gyrus. Gray matter volume indices in left hemispheric occipitotemporal and parietotemporal regions of interest also correlated positively with rapid automatized naming. No differences between the two groups were observed in frontal and cerebellar regions. This discovery in a small group of children suggests that previously described functional and structural alterations in developmental dyslexia may not be due to experience-dependent brain changes but may be present at birth or develop in early childhood prior to reading onset. Further studies using larger sample sizes and longitudinal analyses are needed in order to determine whether the identified structural alterations may be utilized as structural markers for the early identification of children at risk, which may prevent the negative clinical, social and psychological outcome of developmental dyslexia.

Dataset Information

Association, characterisation and meta-analysis of SNPs linked to general reading ability in a German dyslexia case-control cohort.

Publications

Association, characterisation and meta-analysis of SNPs linked to general reading ability in a German dyslexia case-control cohort.

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