Summary of association findings in dyslexia
Gene | Study design | Sample characteristics, country | Genotyped variants | Results | References |
---|---|---|---|---|---|
DCDC2, doublecortin domain containing protein 2gene; SNP, single-nucleotide polymorphism. | |||||
*Some cases were extracted from the same families and are related. | |||||
†Including the two significantly associated SNPs reported by Taipale et al.83 | |||||
‡Cases and controls were analysed using a DNA pooling approach. | |||||
§Samples represent subsamples selected for severity of the phenotype. | |||||
¶Individual genotyping of markers that were associated in the pooled samples (most of the cases and controls are identical). | |||||
DYX1C1 | Case–control | 55 cases* vs 113 controls, Finland | 8 SNPs | Significant association at the single-marker and haplotype level | Taipale et al83 |
Case–control | 54 cases* vs 82 controls, Finland | 8 SNPs† | Significant association at the single-marker level | ||
Family based | 148 nuclear families, Canada | 6 SNPs† | Significant association at the single-marker and haplotype level, association in the opposite direction compared to Taipale et al83 | Wigg et al84 | |
Family based | 264 nuclear families, UK | 8 SNPs† | Significant association at the single-marker level, association in the opposite direction compared to Taipale et al83 | Scerri et al85 | |
Family based | 150 nuclear families, USA | 2 SNPs† | No association | Meng et al86 | |
Family based | 158 nuclear families, Italy | 3 SNPs† | No association | Marino et al87 | |
Case–control | 57 cases vs 96 controls, Italy | 3 SNPs† | No association | Bellini et al88 | |
Family based | 247 nuclear families, UK | 3 SNPs† | No association | Cope et al89 | |
DCDC2 | Family based | 114 nuclear families, USA | 31 SNPs within 680 kb (including VMP, DCDC2, KAAG1, KIAA0319, TTRAP and THEM2) | Strongest association at the single-marker and haplotype level within the VMP/DCDC2/KAAG1 locus | Deffenbacher et al72 |
Family based | 153 nuclear families, USA | 147 SNPs within 1.5 Mb (including VMP, DCDC2, KAAG1, KIAA0319, TTRAP and THEM2) | Strongest association at the single-marker and haplotype level within DCDC2 | Meng et al74 | |
Case–control | 240 cases vs 312 controls, UK‡ | 137 SNPs within VMP, DCDC2, KAAG1, KIAA0319, TTRAP and THEM2 | No association within the VMP/DCDC2/KAAG1locus | Cope et al71 | |
Family based | 137 triads, Germany | 18 SNPs and 4 STRs within the VMP/DCDC2/KAAG1-locus | Strongest association at the single-marker and haplotype level within DCDC2, strongest results with severity selection | Schumacher et al75 | |
Family based | 239 triads, Germany | 2 SNPs, 1 STR within DCDC2 | Significant association at the haplotype level, strongest results with severity selection | ||
KIAA0319 | Family based | 114 nuclear families, USA | 31 SNPs within 680 kb (including VMP, DCDC2, KAAG1, KIAA0319, TTRAP and THEM2) | Significant association at the single-marker and haplotype level within the KIAA0319/TTRAP/THEM2 locus | Deffenbacher et al72 |
Family based | 42 nuclear families, UK§ | 31 SNPs within 680 kb (including the KIAA0319/TTRAP/THEM2 locus) | Strongest association at the single-marker and haplotype level within KIAA0319 and TTRAP | Francks et al73 | |
Family based | 84 nuclear families, UK§ | 20 SNPs within KIAA0319 and TTRAP | Significant association at the single-marker and haplotype level | ||
Family based | 124 nuclear families, USA§ | 21 SNPs within KIAA0319 and TTRAP | Significant association at the single-marker and haplotype level | Cope et al71 | |
Case– control | 240 cases vs 312 controls, UK‡¶ | 137 SNPs within VMP, DCDC2, KAAG1, KIAA0319, TTRAP and THEM2 | Strongest association at the single-marker and haplotype level within KIAA0319 | ||
Case–control | 223 cases vs 273 controls, UK‡¶ | 10 SNPs within the KIAA0319/TTRAP/THEM2-locus | Strongest association at the single-marker and haplotype level within KIAA0319 | Schumacher et al75 | |
Family based | 376 triads, Germany | 10 SNPs within the KIAA0319/TTRAP/THEM2 locus | Nominal significant association at the single-marker level for 1 variant within KIAA0319 in the most severely affected subsample | Harold et al90 | |
Family based | 126 nuclear families, UK§ | 16 SNPs within DCDC2, KIAA0319 and flanking region | Strongest association at the single-marker level within 20 kB in intron1 of KIAA0319 | ||
Case–control | 350 cases vs 273 controls, UK | 28 SNPs and 1 STR within DCDC2, KIAA0319 and flanking regions | Evidence for gene–gene interaction betweenKIAA0319 and DCDC2 | ||
Case–control | 419 cases vs 273 controls, UK | 4 SNPs and 1 STR within DCDC2 and 5 SNPS within KIAA0319 |