Genetic Variation in the KIAA0319 5′ Region as a Possible Contributor to Dyslexia

Elbert, Adrienne; Lovett, Maureen W.; Cate-Carter, Tasha; Pitch, Ashley; Kerr, Elizabeth; Barr, Cathy L.

doi:10.1007/s10519-010-9434-1

Cited by 32 publications

(29 citation statements)

References 73 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In KIAA0319, we did not found association of rs9461045, a previously identified causative variant [Dennis et al, 2009] with DD. Our result is consistent with previous association studies from Canadian [Elbert et al, 2011], German [Kirsten et al, 2012], Brazilian [Svidnicki et al, 2013], and Indian populations [Venkatesh et al, 2013] in which rs9461045 failed to associate with DD as well.…”

Section: Discussionsupporting

confidence: 93%

“…Meanwhile, another study focusing on a 575-kb region of chromosome 6p22.2 also reported significant association of KIAA0319 with DD by identifying rs4504469 as well as a two-marker haplotype rs4504469-rs6935076 [Cope et al, 2005]. The association of KIAA0319 with DD was also supported by association studies in the UK [Harold et al, 2006], Canadian [Elbert et al, 2011] and Indian populations [Venkatesh et al, 2013] as well as a recent meta-analysis [Zou et al 2012]. In general populations unselected for DD, KIAA0319 was found to be associated with reading abilities as well [Luciano et al, 2007;Paracchini et al, 2008;Scerri et al, 2011].…”

Section: Introduction Neuropsychiatric Geneticsmentioning

confidence: 82%

“…However, association of KIAA0319 with DD was not always consistent. The association of rs9461045 in KIAA0319 with DD failed to be replicated in Canadian [Elbert et al, 2011], German [Kirsten et al, 2012], Brazilian [Svidnicki et al, 2013], and Indian populations [Venkatesh et al, 2013]. In addition, other previously reported genetic variants of KIAA0319 were not shown to associate with DD in some replication studies as well [Brkanac et al, 2007;Ludwig et al, 2008a;Venkatesh et al, 2011;Svidnicki et al, 2013].…”

Section: Introduction Neuropsychiatric Geneticsmentioning

confidence: 82%

“…Previously identified functional variants have been replicated, including BV677278 of DCDC2 [Brkanac et al, 2007;Ludwig et al, 2008b;Wilcke et al, 2009;Meng et al, 2011;Marino et al, 2012;Powers et al, 2013] and rs9461045 of KIAA0319 [Elbert et al, 2011;Kirsten et al, 2012;Svidnicki et al, 2013;Venkatesh et al, 2013]. The results were inconclusive across different populations.…”

Section: Discussionmentioning

confidence: 98%

See 3 more Smart Citations

Association study of developmental dyslexia candidate genes DCDC2 and KIAA0319 in Chinese population

Sun

Gao

Zhou

et al. 2014

American J of Med Genetics Pt B

View full text Add to dashboard Cite

Developmental dyslexia (DD) is characterized by difficulties in reading and spelling independent of intelligence, educational backgrounds and neurological injuries. Increasing evidences supported DD as a complex genetic disorder and identified four DD candidate genes namely DYX1C1, DCDC2, KIAA0319 and ROBO1. As such, DCDC2 and KIAA0319 are located in DYX2, one of the most studied DD susceptibility loci. However, association of these two genes with DD was inconclusive across different populations. Given the linguistic and genetic differences between Chinese and other populations, it is worthwhile to investigate association of DCDC2 and KIAA0319 with Chinese dyslexic children. Here, we selected 60 tag SNPs covering DCDC2 and KIAA0319 followed by high density genotyping in a large unrelated Chinese cohort with 502 dyslexic cases and 522 healthy controls. Several SNPs (P min ¼ 0.0192) of DCDC2 and KIAA0319 as well as a four-maker haplotype (P adjusted ¼ 0.0289, Odds Ratio (OR) ¼ 1.3400) of KIAA0319 showed nominal association with DD. However, none of these results survived Bonferroni correction for multiple comparisons. Thus, the association of DCDC2 and KIAA0319 with DD in Chinese population should be further validated and their contribution to DD etiology and pathology should be interpreted with caution.

show abstract

Section: Discussionsupporting

confidence: 93%

Section: Introduction Neuropsychiatric Geneticsmentioning

confidence: 82%

Section: Introduction Neuropsychiatric Geneticsmentioning

confidence: 82%

Section: Discussionmentioning

confidence: 98%

See 2 more Smart Citations

Association study of developmental dyslexia candidate genes DCDC2 and KIAA0319 in Chinese population

Sun

Gao

Zhou

et al. 2014

American J of Med Genetics Pt B

View full text Add to dashboard Cite

show abstract

“…Probands and siblings in the Toronto sample were tested for IQ, reading, and language measures, which have all been described previously [Wigg et al, 2004;Couto et al, 2010;Elbert et al, 2011]. The Wechsler Intelligence Scale for Children (WISC-III or WISC-IV) was used to assess intelligence and cognitive ability, and children were excluded from the study if they scored <80 on the Verbal and Performance Scales of the WISC-III, or on the Verbal Comprehension and Perceptual Reasoning Indices of the WISC-IV [Wechsler, 1991[Wechsler, , 2003].…”

Section: Materials and Methods Family-based Association Analysismentioning

confidence: 99%

A family‐based association analysis and meta‐analysis of the reading disabilities candidate gene DYX1C1

Tran

Gagnon

Wigg

et al. 2013

American J of Med Genetics Pt B

View full text Add to dashboard Cite

Reading disabilities (RD) have a significant genetic basis and have shown linkage to multiple regions including chromosome 15q. Dyslexia susceptibility 1 candidate gene 1 (DYX1C1) on chromosome 15q21 was originally proposed as a candidate gene with two potentially functional polymorphisms at the À3G/A and 1249G/T positions showing association with RD. However, subsequent studies have yielded mixed results. We performed a literature review and meta-analysis of the À3G/A and 1249G/T polymorphisms, including new unpublished data from two family-based samples. Ten markers in DYX1C1 were genotyped in the two independently ascertained samples. Single marker and À3G/A:1249G/T haplotype analyses were performed for RD in both samples, and quantitative trait analyses using standardized reading-related measures was performed in one of the samples. For the meta-analysis, we used a random-effects model to summarize studies that tested for association between À3G/A or 1249G/T and RD. No significant association was found between the DYX1C1 SNPs and RD or any of the reading-related measures tested after correction for the number of tests performed. The previously reported risk haplotype (À3A:1249T) was not biased in transmission. A total of 9 and 10 study samples were included in the meta-analysis of the À3G/A and 1249G/T polymorphisms, respectively. Neither polymorphism reached statistical significance, but the heterogeneity for the 1249G/T polymorphism was high. The results of this study do not provide evidence for association between the putatively functional SNPs À3G/A and 1249G/T and RD. Ó 2013 Wiley Periodicals, Inc.Key words: dyslexia; chromosome 15q; EKN1; genetics INTRODUCTIONSpecific reading disabilities (RD), or developmental dyslexia, refer to an unexpected and specific difficulty in learning to read despite normal or above average intelligence, education, and socioeconomic opportunity. RD is likely caused by a dysfunction of neural systems involved in cognitive skills required for reading [Habib, 2000]. A core deficit observed in dyslexics involves the processing of phonemes, the most basic unit of speech sounds, which persist into adulthood [Bruck, 1992;Shaywitz et al., 1999;Ramus et al., 2003]. Individuals with RD have difficulty segmenting words into their phonological elements, impairing their ability in learning to read. Several other reading components have been shown to be impaired in individuals with RD including orthographic coding, single-word reading, rapid automatic naming, and spelling [Denckla and Rudel, 1976;Paulesu et al., 2001;Francks et al., 2002]. With an estimated Additional supporting information may be found in the online version of this article. 146Neuropsychiatric Genetics prevalence ranging from 5% to 17.5% in school-aged children, RD is the most common learning disability and affects four out of five individuals with learning disabilities [Shaywitz et al., 1990;Shaywitz, 1998;Katusic et al., 2001]. There is substantial evidence to suggest that RD is both familial and heritable. RD has bee...

show abstract

Pectin‐based polymer hydrogel as a carrier for release of agricultural nutrients and removal of heavy metals from wastewater

Guilherme

Reis

Paulino

et al. 2010

J of Applied Polymer Sci

124

View full text Add to dashboard Cite

A pectin-based hydrogel was used as a remover of Cu 2þ and Pb 2þ ions from water and wastewater and in the release of phosphate, potassium, and urea. The swelling studies in either aqueous or saline solutions were analyzed at different pressures, and the prediction of profile of water and solute transports was further analyzed on basis of transport process by diffusion in swellable polymer networks. The hydrogel composed of 0.10 g mL À1 final polymer concentration showed an excellent absorption capacity for removal of Cu 2þ and Pb 2þ from the solution: 120 mg Cu 2þ and 130 mg Pb 2þ per g hydrogel, both at pH 5.5. The hydrogel help to conserve water in a pressure range in which a variety of horticultural plants can absorb it. The release process of urea, phosphate, and potassium from the hydrogels is controlled by non-Fickian mechanism with a tendency to macromolecular relaxation. This type of hydrogel is an interesting system for applications in which the efficient use of water is required and release of fertilizers for agriculture.

show abstract

Genetic Variation in the KIAA0319 5′ Region as a Possible Contributor to Dyslexia

Cited by 32 publications

References 73 publications

Association study of developmental dyslexia candidate genes DCDC2 and KIAA0319 in Chinese population

Association study of developmental dyslexia candidate genes DCDC2 and KIAA0319 in Chinese population

A family‐based association analysis and meta‐analysis of the reading disabilities candidate gene DYX1C1

Pectin‐based polymer hydrogel as a carrier for release of agricultural nutrients and removal of heavy metals from wastewater

Contact Info

Product

Resources

About