|
rs4141463
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Therefore, this study does not provide support for the reported association between rs4141463 and autism.
|
21656903 |
2011 |
|
rs4141463
|
|
|
0.820 |
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 |
|
rs1877455
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P=4.49 × 10(-8)), non-synonymous rs6537835 (P=3.26 × 10(-8)) and rs1877455 (P=8.70 × 10(-8)), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism.
|
24189344 |
2014 |
|
rs4307059
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The results showed a nominal association between the T allele of rs4307059 and autism under both additive model (T>C, Z = 2.250, P = .024) and recessive model (T>C, Z = 2.109, P = .035).
|
30610940 |
2019 |
|
rs121917893
|
|
|
0.090 |
GeneticVariation |
BEFREE |
By incorporating the R451C mutation found in neuroligin (NLGN) and associated with autism and the thyroglobulin G2320R (G221R in NLGN) mutation responsible for congenital hypothyroidism into NLGN3, we show that mutations in the alpha/beta-hydrolase fold domain influence folding and biosynthetic processing of neuroligin3 as determined by in vitro susceptibility to proteases, glycosylation processing, turnover, and processing rates.
|
20615874 |
2010 |
|
rs121917893
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Social Isolation Alters Social and Mating Behavior in the R451C Neuroligin Mouse Model of Autism.
|
28255463 |
2017 |
|
rs121917893
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Here, we investigated the expression of long-term synaptic plasticity at corticostriatal glutamatergic synapses in the dorsal striatum of the R451C-NL3 phenotypic mouse model of autism.
|
28921757 |
2018 |
|
rs121917893
|
|
|
0.090 |
GeneticVariation |
BEFREE |
NL3 R451C knockin (KI) mice exhibit autistic behavioral abnormalities, including social novelty deficits.
|
29503190 |
2018 |
|
rs121917893
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Here, we have investigated whether this protective cellular response is detectable in the knock-in mouse model of autism endogenously expressing R451C NLGN3.
|
30201312 |
2018 |
|
rs121917893
|
|
|
0.090 |
GeneticVariation |
BEFREE |
A single, maternally inherited, X-linked point mutation leading to an arginine to cysteine substitution at amino acid 451 (R451C) of Neuroligin 3 (NLGN3R451C) is a likely cause of autism in two brothers.
|
26469287 |
2015 |
|
rs121917893
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Lastly, we identified differences in the dimerization capacity of autism-associated neuroligin mutants, and found that neuroligin 3 R471C mutants can form heterodimers with neuroligin 1.
|
22671294 |
2012 |
|
rs121917893
|
|
|
0.090 |
GeneticVariation |
BEFREE |
We report the GI symptoms of two brothers with autism and an R451C mutation in Nlgn3 encoding the synaptic adhesion protein, neuroligin-3.
|
31119867 |
2019 |
|
rs121917893
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing.
|
15152050 |
2004 |
|
rs1217691063
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Methylene tetrahydrofolate reductase (MTHFR) is a basic catalyst for this pathway, also MTHFR gene C677T variant accounted as a risk factor of autism.
|
31033224 |
2019 |
|
rs1217691063
|
|
|
0.080 |
GeneticVariation |
BEFREE |
In conclusion, present meta-analysis strongly suggested a significant association of the MTHFR C677T polymorphism with autism.
|
26956130 |
2016 |
|
rs1217691063
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Stratified analyses showed that MTHFR 677C > T and 1298A > C polymorphisms are involved in genetic susceptibility of aut</span>ism by ethnicity.
|
31614268 |
2019 |
|
rs1217691063
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The MTHFR 677C-->T polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations.
|
19455642 |
2009 |
|
rs1217691063
|
|
|
0.080 |
GeneticVariation |
BEFREE |
This study suggested that MTHFR C677T is a risk factor of autism in Chinese Han children.
|
22775456 |
2012 |
|
rs1217691063
|
|
|
0.080 |
GeneticVariation |
BEFREE |
MTHFR C677T is a risk factor, whereas MTRR A66G and SHMT C1420T polymorphisms reduce risk for autism.
|
19440165 |
2009 |
|
rs1217691063
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The current study investigated the metabolites in the methionine cycle, the transsulphuration pathway, folate, vitamin B(12) and the C677T polymorphism of the MTHFR gene in three groups of children diagnosed with AD (n= 15), AS (n= 5) and PDD-NOS (n= 19) and their age- and sex-matched controls (n= 25).
|
19267885 |
2009 |
|
rs1217691063
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Among the genes associated with the increased risk for autism is the methylenetetrahydrofolate-reductase (MTHFR) 677C>T polymorphism, which impairs one-carbon (C1) metabolic pathway efficiency.
|
30552741 |
2019 |
|
rs1861972
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Two intronic SNPs (rs1861972 and rs1861973) demonstrated significant association with autism (rs1861972, P=0.0018; rs1861973, P=0.0003; haplotype, P=0.000005).
|
15024396 |
2004 |
|
rs1861972
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Two SNPs (rs1861972, rs1861973) at the EN2 gene that have been reported to be associated with autism underwent analysis among our studied cohorts.
|
18424904 |
2008 |
|
rs1861972
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Here, we have investigated the association of five markers [rs3735653 (C/T) in exon 1; rs34808376 (GC/-) and rs6150410 (CGCATCCCC/-) in promoter region; rs1861972 (A/G) and rs1861973 (C/T) in the intron] of the gene with autism and ASD in Indian population using family-based approach.
|
20050924 |
2010 |
|
rs1861972
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Two recent studies have demonstrated that two intronic SNPs (rs1861972, rs1861973) in the EN2 gene are significantly associated with autism.
|
17948901 |
2008 |