Genes Residing in Classical DYX Loci
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Dyslexia/PA, RAN, and other traits
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DYX1C1
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rs11629841 and haplotypes of rs11629841 with rs3743204 and rs692691
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148 nuclear families
(470 individuals)
|
[69]
|
Dyslexia
|
DYX1C1
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No association
|
264 nuclear families
(1153 individuals)
|
[70]
|
Dyslexia
|
DYX1C1
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c.1249G>T coding variant
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191 trios
|
[71]
|
Dyslexia/short-term memory
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DYX1C1
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c.−3G>A and c.1249G>T minor alleles haplotype
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212 nuclear families
(677 individuals)
|
[72]
|
Dyslexia/short-term memory
|
DYX1C1
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rs3743205/rs3743204/
rs600753 haplotype in females
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366 trios
|
[73]
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Reading ability
(reading and spelling traits)
|
DYX1C1
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rs17819126 coding variant
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284 DZ twins, 164 DZ twin families, 143 MZ twin families
|
[74]
|
Dyslexia/Reading ability
(12 cognitive traits)
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DCDC2
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10/31 SNPs in DCDC2
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153 nuclear families
(536 individuals)
|
[75]
|
Dyslexia
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DCDC2
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No association
|
396 trios
|
[76]
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Dyslexia
(severe versus non-severe)
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DCDC2
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rs793862, rs807701, rs80772 and intron-2 deletion
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72 cases/184 controls
|
[77]
|
Reading ability
(7 reading and spelling traits)
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DCDC2
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21 SNPs of which rs1419228 was associated with poorer general reading performance
|
522 twin families
(1067 individuals)
(unselected population)
|
[78]
|
Dyslexia/word-reading and spelling
|
DCDC2
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rs793862 and rs807724 minor alleles in SLD or comorbid cases
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225 cases/442 controls
(plus 54 comorbid SLD/SLI/ADHD cases)
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[79]
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Dyslexia and mathematics (numerical facts and mental calculation)
|
DCDC2 and DYX1C1
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c.−3G>A, c.1249G>T in DYX1C1 and intron-2 deletion/STR in DCDC2
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180 nuclear families
(581 individuals)
|
[80]
|
Dyslexia/6 traits of reading ability
|
DCDC2
|
Intron-2 STR alleles associated with word- and non-word repetition
|
303 nuclear families
(973 individuals)
|
[81]
|
Dyslexia
|
DCDC2
|
14 SNPs of which several SNPs and two haplotypes were associated under different models
|
196 cases/196 controls
|
[82]
|
Dyslexia/6 traits of reading ability
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DCDC2 and KIAA0319
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5 SNPs within KIAA0319
Pairwise associations between a DCDC2 and a KIAA0319 variant
|
264 nuclear families
350 cases/273 controls
|
[83]
|
Reading abilities
(5 reading and spelling traits)
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KIAA0319
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rs2143340 associated with poor reading and spelling
|
~6000 individuals
|
[84]
|
Dyslexia/6 traits of reading ability
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KIAA0319
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rs9461045 associated with dyslexia traits
|
264 nuclear families
(of which 126 comprised a severity sample)
|
[85]
|
Dyslexia/Reading, spelling, and phonological traits
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DCDC2 and KIAA0319
NRSN1
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rs6935076 in KIAA0319 associated with dyslexia and spelling and 3 SNPs in NRSN1
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291 nuclear families
(of which 165 are trios)
|
[86]
|
General reading abilities (word-reading and spelling)
|
KIAA0319 and CMIP
|
rs2143340 in KIAA0319 and rs6564903 in CMIP
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225 cases/442 controls
(plus 54 comorbid SLD/SLI/ADHD cases)
|
[79]
|
Dyslexia and mathematics
|
ROBO1
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rs333491 associated with mental calculation accuracy
|
179 nuclear families
(of which 154 comprised a severity sample)
|
[87]
|
Dyslexia
Word-reading efficiency and
RAN
|
KIAA0319L
KIAA0319L
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rs7523017 associated with dyslexia
A four SNP-haplotype
|
291 nuclear families
156 nuclear families
|
[88]
|
Other dyslexia-candidate genes
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Dyslexia/6 traits of reading ability
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CNTNAP2
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rs2710102 associated with non-word repetition
|
188 trios
|
[89]
|
Dyslexia/6 traits of reading ability
|
FOXP2
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rs7782412 major allele associated with non-word repetition and real-word reading efficiency
|
188 trios
|
[89]
|
Dyslexia
(mismatch response)
|
SLC2A3
|
rs4234898 on chromosome 4 associated with mismatch response
|
200 cases (discovery set) 186 cases (replication set)
|
[90]
|
Dyslexia/IQ and cognitive processes and mathematics
|
GRIN2B
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rs5796555 and rs1012586 associated with dyslexia
|
466 nuclear families, of which 227 comprised a severity sample
|
[91]
|
Reading ability
(reading comprehension, phonological memory)
|
BDNF
|
rs6265 associated with poorer reading performance
rs6265 associated with increased brain activity in areas contributing to phonological and reading competence
|
81 children
94 children
|
[92]
[93]
|
Dyslexia-associated gene panels
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Dyslexia/word-reading and spelling
|
DYX1C1, DCDC2, KIAA0319, and MRPL19/C2orf3 locus
|
No association
|
958 cases/1150 controls
|
[94]
|
Dyslexia
|
MRPL19, C20RF3, ROBO1, DCDC2, KIAA0319, DYX1C1, CNTNAP2, ATP2C2 and CMIP
|
rs807724 in DCDC2 associated with dyslexia
|
331 cases/maximum 363 controls
|
[95]
|
Dyslexia/spelling
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CYP19A1, DCDC2, DIP2A, DYX1C1, GCFC2 (C2orf3), KIAA0319, MRPL19, PCNT, PRMT2, ROBO1 and S100B
|
A non-synonymous SNP in DCDC2 (rs2274305) and a non-coding SNP in S100B (rs9722) associated with dyslexia
|
361 cases/261 controls
575 affected, 376 unaffected and 511 of unknown status
(family-based)
|
[96]
|
Dyslexia
|
DYX1C1, DCDC2, KIAA0319, ROBO1 and TDP2
|
Nominal associations only
(rs7765678 in DCDC2, rs2038137 and rs6935076 in KIAA0319)
|
383 cases/357 controls
|
[38]
|
Reading abilities
(Word/Non-word reading fluency, PA, RAN)
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Top hits from previous GWAS on reading (SLD) and language (SLI) (dis)abilities
|
No association
|
307 nuclear families
(483 children/505 adults)
|
[97]
|
Reading ability
|
CYP19A1, DCDC2, DYX1C1, GCFC2 (C2orf3), KIAA0319, MRPL19, ROBO1, KIAA0319L DIP2A, PRMT2, PCNT, S100B, CNTNAP2 and CMIP
|
No single-marker association
62 SNPs—Gene-based SNP-set associations were significant for DYX1C1, DIP2A, CYP19A1
|
1217 old adults (>70 yrs)
(unimpaired)
|
[98]
|
Dyslexia
Word reading, RAN, and syllable discrimination
|
KIAA0319, DCDC2, and DYX1C1
|
No single-marker association
Pairwise SNP association with dyslexia (rs2274305 in DCDC2 and rs4504469 in KIAA0319)
rs2274305 in DCDC2
rs57809907 in DYX1C1
rs4504469 in KIAA0319
|
286 cases/1197 controls
3357 individuals
(total cohort)
|
[99]
|
Reading and spelling ability
|
CMIP, CNTNAP2, CYP19A1,
DCDC2, DIP2A, DYX1C1, C2orf3, KIAA0319, KIAA0319L, MRPL19, ROBO1, PCNT, PRMT2 and S100B
|
No association
(>9500 SNPs and gene-based SNP-sets)
|
1505 individuals
(unimpaired)
|
[100]
|
Other SLD domains
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Reading and mathematical traits indicative of dyslexia and dyscalculia, respectively
|
15q11.2(BP1-BP2)—TUBGCP5, NIPA1, NIPA2, CYFIP1
|
15q11.2(BP1-BP2) deletion CNV associated with worse outcome in reading and mathematical abilities
|
167 controls, carriers of neuropsychiatric CNVs
|
[43]
|
Dysgraphia
|
DCDC2, DYX1C1, KIAA0319 and ROBO1
|
rs3743204 in DYX1C1 and rs793842 in DCDC2 associated with dysgraphia measurements
|
21 cases/18 controls
|
[101]
|