|
rs12826786
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Based on the results of the current investigation, the rs12826786 can be regarded as a risk locus for ASD in Iranian population.
|
31654274 |
2020 |
|
rs10418707
|
|
|
0.010 |
GeneticVariation |
BEFREE |
DNMT1 rs10418707 and rs10423341, and DNMT3A rs2289195 were found to be significantly associated at genotypic and allelic level with ASD.
|
30786140 |
2019 |
|
rs10423341
|
|
|
0.010 |
GeneticVariation |
BEFREE |
DNMT1 rs10418707 and rs10423341, and DNMT3A rs2289195 were found to be significantly associated at genotypic and allelic level with ASD.
|
30786140 |
2019 |
|
rs10497655
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This result indicates that the rs10497655 allelic expression difference of ZNF804A during the critical period of brain development may have an effect on postnatal phenotypes of ASD.
|
30670685 |
2019 |
|
rs12539160
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two cases were hemizygous for the rare T allele at rs12539160 in <i>MLXIPL</i>, previously associated with ASD.
|
31413120 |
2019 |
|
rs141441277
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a 7-year-old male with high functioning autism spectrum disorder (ASD) and maternally-inherited rare missense variant of Synaptotagmin-like protein 4 (<i>SYTL4)</i> gene (Xq22.1; c.835C>T; p.Arg279Cys) and an unknown missense variant of Transmembrane protein 187 (<i>TMEM187</i>) gene (Xq28; c.708G>T; p. Gln236His).
|
31323913 |
2019 |
|
rs1799836
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further large-scale investigations are required to uncover possible relationships between rs1799836 MAOB and ASD progression in a gender-specific manner and their possible application as a therapeutic target.
|
31275445 |
2019 |
|
rs199473391
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel.
|
30172029 |
2019 |
|
rs2230365
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, we found nominal association in the case-control study for rs2230365, replicating earlier association between this SNP and ASD in an independent genome-wide association study.
|
31162003 |
2019 |
|
rs2268493
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this regard, a single nucleotide polymorphism in the oxytocin receptor coding gene (OXTR rs2268493) has been linked with lower social functioning, increased risk for autism spectrum disorders (ASDs) and with post-mortem OXTR mRNA expression levels.
|
31471679 |
2019 |
|
rs2289195
|
|
|
0.010 |
GeneticVariation |
BEFREE |
DNMT1 rs10418707 and rs10423341, and DNMT3A rs2289195 were found to be significantly associated at genotypic and allelic level with ASD.
|
30786140 |
2019 |
|
rs2298444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ASD probands showed a higher frequency of rs2298444 'A' allele (P = 0.01) and genotypes with 'A' allele (P = 0.03) when compared with the controls. rs1801198 'C' allele and 'CG' genotype also showed higher occurrence in the probands (P = 0.009 and 0.005, respectively).
|
30676283 |
2019 |
|
rs2317385
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Integrin β3 is encoded by the ITGB3 gene, previously identified as a quantitative trait locus (QTL) for 5-HT blood levels in ASD at single nucleotide polymorphism (SNP) rs2317385.
|
30535103 |
2019 |
|
rs34714481
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We analyzed the relationship of two polymorphisms (rs10497655 and rs34714481) in ZNF804A promoter region with ASD in 854 cases versus 926 controls.
|
30670685 |
2019 |
|
rs3747333
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analysis of the SNP rs3747333 and rs3747334 in NLGN4X gene in autism spectrum disorder: a meta-analysis.
|
31139237 |
2019 |
|
rs3747334
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analysis of the SNP rs3747333 and rs3747334 in NLGN4X gene in autism spectrum disorder: a meta-analysis.
|
31139237 |
2019 |
|
rs55827077
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results support rs55827077 as the functional ITGB3 gene promoter variant contributing to elevated 5-HT blood levels in ASD and define a mechanistic chain of events linking ITGB3 to hyperserotonemia.
|
30535103 |
2019 |
|
rs587777365
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One patient carried previously reported p.P83S variant with autism spectrum disorder (ASD) phenotype that has not yet been described related to GABRG2 disorders and a more severe epilepsy phenotype than reported earlier.
|
31004928 |
2019 |
|
rs61753971
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interestingly, three rare missense mutations (H371R, E394K, and G428S) in MECP2, which we identified in a Han Chinese autism spectrum disorders (ASD) cohort showed loss-of-function effects in NPC differentiation assay.
|
30560934 |
2019 |
|
rs6551665
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We tested the association of an ADGRL3 variant (rs6551665</span>) with both early-onset ADHD and ASD susceptibility.
|
30652248 |
2019 |
|
rs758352860
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we examined the synaptic effects of rat Mint2 N723S mutation (equivalent to autism-linked human MINT2 N722S mutation) which targets a conserved asparagine residue in the second PDZ domain of Mint2 that binds to neurexin-1α (Nrxn1α), a presynaptic cell-adhesion protein implicated in ASDs.
|
30988517 |
2019 |
|
rs766483232
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we examined the synaptic effects of rat Mint2 N723S mutation (equivalent to autism-linked human MINT2 N722S mutation) which targets a conserved asparagine residue in the second PDZ domain of Mint2 that binds to neurexin-1α (Nrxn1α), a presynaptic cell-adhesion protein implicated in ASDs.
|
30988517 |
2019 |
|
rs766483232
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we examined the synaptic effects of rat Mint2 N723S mutation (equivalent to autism-linked human MINT2 N722S mutation) which targets a conserved asparagine residue in the second PDZ domain of Mint2 that binds to neurexin-1α (Nrxn1α), a presynaptic cell-adhesion protein implicated in ASDs.
|
30988517 |
2019 |
|
rs775988247
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we further assessed how Shank3 mutations identified in patients with ASD (one de novo InsG mutation and two inherited point mutations, R87C and R375C) disrupt group I mGluR (mGluR1 and mGluR5) expression and function.
|
30868621 |
2019 |
|
rs779545541
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a 7-year-old male with high functioning autism spectrum disorder (ASD) and maternally-inherited rare missense variant of Synaptotagmin-like protein 4 (<i>SYTL4)</i> gene (Xq22.1; c.835C>T; p.Arg279Cys) and an unknown missense variant of Transmembrane protein 187 (<i>TMEM187</i>) gene (Xq28; c.708G>T; p. Gln236His).
|
31323913 |
2019 |