AutismKB

Evidence Detail for SLC25A12


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Basic Information Top
Gene Symbol:SLC25A12 ( AGC1,ARALAR )
Gene Full Name: solute carrier family 25 (mitochondrial carrier, Aralar), member 12
Band: 2q24
Quick LinksEntrez ID:8604; OMIM: 603667; Uniprot ID:CMC1_HUMAN; ENSEMBL ID: ENSG00000115840
Sequences Top
>SLC25A12|8604|nucleotide
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>SLC25A12|8604|protein
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 2 (2) 0 (0) 2 (4) 3 (13) 2 (4) 27 (24)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 12
Case Control Based Association Studies: 1
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
ASIAN
Chien, 2009_1 China 2 (detail) 465
(13.55%)
ASD 9.4±4.2
-
- 450
(49.56%)
45.9±13.4 years(male), 46.6±11.7 years(female)
-
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Palmieri, 2008_1 human superior temporal gyrus (BA 41/42 or 22)--AD RNA expression
  • Subjects: 6
  • Normal Controls: 6
  • Methods: real-time PCR
  • Evidence Details: Expression of AGC1, the predominant AGC isoform in brain, and cytochrome c oxidase activity were both increased in autistic patients, indicating an activation of mitochondrial metabolism.
Kim, 2011_1 human bloodASD genotype-phenotype interaction
  • Subjects: 179 (150 male,29 female) in UIC-UF, 720(620 male, 100 female) in SSC
  • Normal Controls: -
  • Methods: Illumina 1M/1Mduo Genechip,TaqMan? SNP Genotyping Assay
  • Evidence Details: In the UIC-UF sample(the sample set which contains unrelated autism patiens), three RBS-R score(ritualistic, sameness, sum)had positive associations with the A allele of rs2292813 and with the rs2056202-rs2292813 haplotype. The SSC sample(720 families) had positive association between the A allele of rs2056202 and four RBS-R score(stereotyped, sameness, restricted, sum) (p = 0.006-0.010), between the A allele of rs908670 and three RBS-R scores (stereotyped,self-injurious, sum) (p = 0.003-0.015), and between the rs2056202-rs2292813 haplotype and six RBS-R scores stereotyped, self-injurious, compulsive, sameness, restricted, sum)(omnibus test, p = 0.002-0.028). Taken together,the A alleles of rs2056202 and rs2292813 were consistently and positively associated with RRB traits in both UIC-UF and SSC samples, but the most significant SNP with phenotype association varied in each dataset.
Carayol, 2011_1 human bloodASD genetic score model
  • Subjects: 844(664 males and 179 females)
  • Normal Controls: -
  • Methods: TaqMan allele discrimination assays
  • Evidence Details: Our results demonstrate that individual susceptibility associated SNPs for autism may have important differential sex effects.
Jiao, 2011_1 human bloodASD SNP-based diagnose model
  • Subjects: 180
  • Normal Controls: -
  • Methods: PCR
  • Evidence Details: We found no significant differences in genotypes and allele distributions with respect to this SNP between our ASD subjects and normal Asian populations in the HapMap
Large Scale Expression Studies Top
Microarray Studies: 2
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.64668 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1788053
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_2 Unknown frontal, BA44/45 10
(0.00%)
-autism 6
(0.00%)
0.66027 Down 0.0136741
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_1788053
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000030 2q31.1 2 D2S2188 3.74 - - Monaco, 2001
AutLD0000071 2q31.1 2 D2S335 1.2 - - Buxbaum, 2001
AutLD0000076 2q31.1-31.3 2 D2S2314/D2S2310 2.54 - - Lamb, 2005
AutLD0000127 2q31.1 2 D2S2381 - - 0.00525 Lauritsen, 2006

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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