|
rs310619
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We performed a genome-wide transmission disequilibrium test analysis of a newly genotyped autism case-parent triad samples (127 trios) in Han Chinese, identified top association signals at multiple single nucleotide polymorphisms (SNPs), including rs9839376 (OR = 2.59, P = 1.27 × 10<sup>-05</sup> ) at KCNMB2, rs6044680 (OR = 0.319, P = 4.82 × 10<sup>-05</sup> ) and rs7274133 (OR = 0.313, P = 3.22 × 10<sup>-05</sup> ) at PCSK2, and rs310619 (OR = 2.40, P = 7.44 × 10<sup>-05</sup> ) at EEF1A2.
|
31647196 |
2020 |
|
rs6044680
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We performed a genome-wide transmission disequilibrium test analysis of a newly genotyped autism case-parent triad samples (127 trios) in Han Chinese, identified top association signals at multiple single nucleotide polymorphisms (SNPs), including rs9839376 (OR = 2.59, P = 1.27 × 10<sup>-05</sup> ) at KCNMB2, rs6044680 (OR = 0.319, P = 4.82 × 10<sup>-05</sup> ) and rs7274133 (OR = 0.313, P = 3.22 × 10<sup>-05</sup> ) at PCSK2, and rs310619 (OR = 2.40, P = 7.44 × 10<sup>-05</sup> ) at EEF1A2.
|
31647196 |
2020 |
|
rs7274133
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We performed a genome-wide transmission disequilibrium test analysis of a newly genotyped autism case-parent triad samples (127 trios) in Han Chinese, identified top association signals at multiple single nucleotide polymorphisms (SNPs), including rs9839376 (OR = 2.59, P = 1.27 × 10<sup>-05</sup> ) at KCNMB2, rs6044680 (OR = 0.319, P = 4.82 × 10<sup>-05</sup> ) and rs7274133 (OR = 0.313, P = 3.22 × 10<sup>-05</sup> ) at PCSK2, and rs310619 (OR = 2.40, P = 7.44 × 10<sup>-05</sup> ) at EEF1A2.
|
31647196 |
2020 |
|
rs9839376
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We performed a genome-wide transmission disequilibrium test analysis of a newly genotyped autism case-parent triad samples (127 trios) in Han Chinese, identified top association signals at multiple single nucleotide polymorphisms (SNPs), including rs9839376 (OR = 2.59, P = 1.27 × 10<sup>-05</sup> ) at KCNMB2, rs6044680 (OR = 0.319, P = 4.82 × 10<sup>-05</sup> ) and rs7274133 (OR = 0.313, P = 3.22 × 10<sup>-05</sup> ) at PCSK2, and rs310619 (OR = 2.40, P = 7.44 × 10<sup>-05</sup> ) at EEF1A2.
|
31647196 |
2020 |
|
rs11191454
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Therefore, this family-based association study was performed in 640 Chinese Han autism trios to investigate the association between autism and 7 SNPs with genome-wide significance in previous GWAS (rs4307059 near MSNP1AS, rs4141463 in MACROD2, rs2535629 in ITIH3, rs11191454 in AS3MT, rs1625579 in MIR137HG, rs11191580 in NT5C2, and rs1409313 in CUEDC2).
|
30610940 |
2019 |
|
rs11191580
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Therefore, this family-based association study was performed in 640 Chinese Han autism trios to investigate the association between autism and 7 SNPs with genome-wide significance in previous GWAS (rs4307059 near MSNP1AS, rs4141463 in MACROD2, rs2535629 in ITIH3, rs11191454 in AS3MT, rs1625579 in MIR137HG, rs11191580 in NT5C2, and rs1409313 in CUEDC2).
|
30610940 |
2019 |
|
rs1344706
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings suggested that rs1344706 and rs7603001 in ZNF804A might not be associated with autism in a Han Chinese population.
|
31122238 |
2019 |
|
rs1409313
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Therefore, this family-based association study was performed in 640 Chinese Han autism trios to investigate the association between autism and 7 SNPs with genome-wide significance in previous GWAS (rs4307059 near MSNP1AS, rs4141463 in MACROD2, rs2535629 in ITIH3, rs11191454 in AS3MT, rs1625579 in MIR137HG, rs11191580 in NT5C2, and rs1409313 in CUEDC2).
|
30610940 |
2019 |
|
rs1625579
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Therefore, this family-based association study was performed in 640 Chinese Han autism trios to investigate the association between autism and 7 SNPs with genome-wide significance in previous GWAS (rs4307059 near MSNP1AS, rs4141463 in MACROD2, rs2535629 in ITIH3, rs11191454 in AS3MT, rs1625579 in MIR137HG, rs11191580 in NT5C2, and rs1409313 in CUEDC2).
|
30610940 |
2019 |
|
rs2535629
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Therefore, this family-based association study was performed in 640 Chinese Han autism trios to investigate the association between autism and 7 SNPs with genome-wide significance in previous GWAS (rs4307059 near MSNP1AS, rs4141463 in MACROD2, rs2535629 in ITIH3, rs11191454 in AS3MT, rs1625579 in MIR137HG, rs11191580 in NT5C2, and rs1409313 in CUEDC2).
|
30610940 |
2019 |
|
rs6265
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No significant interaction between the rs6265 genotype and autism was observed for the BDNF expression.
|
29935919 |
2019 |
|
rs869312966
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, the R1620L mutation associated with intellectual disability and autism-but not epilepsy-reduced Na+ current density in neuroblastoma cells and expectedly decreased neuronal firing.
|
30615093 |
2019 |
|
rs879255652
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We first studied the biophysical and neurophysiological consequences of four mutations in the human Na+ channel gene SCN8A causing either mild (E1483K) or severe epilepsy (R1872W), or intellectual disability and autism without epilepsy (R1620L, A1622D).
|
30615093 |
2019 |
|
rs886041116
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We discovered a genomic autism ADNP mutation (c.2188C>T) in postmortem AD olfactory bulbs and hippocampi.
|
31664177 |
2019 |
|
rs10498676
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The A/A genotype of rs10498676 was correlated with a decline in the Autism Diagnostic Interview-Revised communication (verbal and nonverbal) domain.
|
30180836 |
2018 |
|
rs11568820
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Increased vitamin D receptor gene expression and rs11568820 and rs4516035 promoter polymorphisms in autistic disorder.
|
29777458 |
2018 |
|
rs1426217
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further analysis indicated that no associations were found between GABRB3 SNPs and autism on rs2081648 [OR = 0.84 (95% CI) = 0.41-1.72, I<sup>2</sup> = 89.2%] and rs1426217 [OR = 1.13 (95% CI) = 0.64-2.0, I<sup>2</sup> = 83%].
|
29725984 |
2018 |
|
rs2081648
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further analysis indicated that no associations were found between GABRB3 SNPs and autism on rs2081648 [OR = 0.84 (95% CI) = 0.41-1.72, I<sup>2</sup> = 89.2%] and rs1426217 [OR = 1.13 (95% CI) = 0.64-2.0, I<sup>2</sup> = 83%].
|
29725984 |
2018 |
|
rs4516035
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Increased vitamin D receptor gene expression and rs11568820 and rs4516035 promoter polymorphisms in autistic disorder.
|
29777458 |
2018 |
|
rs61941020
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This data was furthermore corroborated in an autism patient-derived iPSC line harbouring the R1746Q rare CEP290 variant.
|
30478281 |
2018 |
|
rs7180500
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results showed that the C allele of rs7180500 in GABRG3 was a risk variant for autism (p = 0.00057).
|
30108208 |
2018 |
|
rs850807
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We phenotyped a large population of typical individuals for schizophrenia-spectrum and autism-spectrum traits, and genotyped them for the single-nucleotide polymorphism rs850807, which is putatively functional and linked with <i>MAGEL2</i> and <i>NDN</i> Genetic variation in rs850807 was strongly and exclusively associated with the ideas of reference subscale of the schizophrenia spectrum, which is best typified as paranoia.
|
29343559 |
2018 |
|
rs12456492
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Significant association was observed between rs12456492 and two disorders, PD and ET, whereas rs16976358 was found to be associated with autism, SCZ, and BPD.
|
26941103 |
2017 |
|
rs145115468
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A previous study detected one de novo missense variant (p.Thr107Met) with probable deleterious function in exon 6 of DUSP15 among patients with autism.
|
27223645 |
2017 |
|
rs16976358
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Significant association was observed between rs12456492 and two disorders, PD and ET, whereas rs16976358 was found to be associated with autism, SCZ, and BPD.
|
26941103 |
2017 |