Autistic Disorder
|
|
0.060 |
GeneticVariation
|
BEFREE |
The haplotype A-C of rs1861972 and rs1861973 is the core element of the observed haplotype association in this study, which plays a role as a protective factor against autism; in addition, the haplotype G-A-C is less frequent in male cases compared to controls (38.64 vs. 52.51%), which plausibly modulate disease vulnerability to autism.
|
20523082 |
2010 |
Autistic Disorder
|
|
0.060 |
GeneticVariation
|
BEFREE |
While Del-T haplotype formed from rs34808376-rs1861973 markers showed increased non-transmission, the Ins-C showed significant transmission suggesting protective effect and risk, respectively, conferred by these haplotypes in autism etiology.
|
20050924 |
2010 |
Autistic Disorder
|
|
0.060 |
GeneticVariation
|
BEFREE |
Two recent studies have demonstrated that two intronic SNPs (rs1861972, rs1861973) in the EN2 gene are significantly associated with autism.
|
17948901 |
2008 |
Autistic Disorder
|
|
0.060 |
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 |
Autistic Disorder
|
|
0.060 |
GeneticVariation
|
BEFREE |
Our previous research involving 167 nuclear families from the Autism Genetic Resource Exchange (AGRE) demonstrated that two intronic SNPs, rs1861972 and rs1861973, in the homeodomain transcription factor gene ENGRAILED 2 (EN2) are significantly associated with autism spectrum disorder (ASD).
|
16252243 |
2005 |
Autistic Disorder
|
|
0.060 |
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 |
Autism Spectrum Disorders
|
|
0.040 |
GeneticVariation
|
BEFREE |
Subsequent molecular analysis determined that the EN2 ASD-associated haplotype (rs1861972-rs1861973 A-C) functions as a transcriptional activator to increase gene expression.
|
24520327 |
2014 |
Autism Spectrum Disorders
|
|
0.040 |
GeneticVariation
|
BEFREE |
Previously we demonstrated that an intronic haplotype (rs1861972-rs1861973 A-C) in the homeobox transcription factor ENGRAILED2 (EN2) is significantly associated with ASD.
|
22180456 |
2012 |
Autism Spectrum Disorders
|
|
0.040 |
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 |
Autism Spectrum Disorders
|
|
0.040 |
GeneticVariation
|
BEFREE |
Our previous research involving 167 nuclear families from the Autism Genetic Resource Exchange (AGRE) demonstrated that two intronic SNPs, rs1861972 and rs1861973, in the homeodomain transcription factor gene ENGRAILED 2 (EN2) are significantly associated with autism spectrum disorder (ASD).
|
16252243 |
2005 |