| Geno
|
Mag
|
Summary
|
| (C;C)
|
2.1
|
>0.55x reduced risk for autism
|
| (C;T)
|
2
|
0.55x reduced risk for autism
|
| (T;T)
|
0.1
|
normal risk of Autism
|
rs10513025 is a SNP located in chromosomal region 5p15, in between the SEMA5A and TAS2R1 genes.
Based on a linkage and association mapping study of 1,031 multiplex autism families, rs10513025 was found to be associated with autism, and the expression of SEMA5A was seen to be reduced in brains from autistic patients. Although this finding was replicated, the authors caution that this SNP explains a very small fraction of the heritability of a complex disorder like autism, presumably due to their finding that the most common allele (present at a frequency of ~96%) is the allele associated with higher risk. The much rarer allele, rs10513025(C), is associated with a 0.55x reduced risk for autism (p=9.6x10e-6).10.1038/nature08490
| GWAS snp
|
| PMID
|
[PMID 19812673 ]
|
| Trait
|
Autism
|
| Title
|
A genome-wide linkage and association scan reveals novel loci for autism
|
| Risk Allele
|
|
| P-val
|
3E-7
|
| Odds Ratio
|
1.81 [NR]
|
[PMID 17903299] A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study.
[PMID 22739633] The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families
]
