Lack of association between autism and SLC25A12.
OBJECTIVE
Autism has a strong, complex genetic component, most likely involving several genes. Multiple genomic screens have shown evidence suggesting linkage to chromosome 2q31-q33, which includes the SLC25A12 gene. Recently, an association between autism risk and two single nucleotide polymorphisms (SNPs) in SLC25A12 was reported. This study aimed to test for association in SLC25A12 in an independent data set of 327 families with autistic offspring.


METHODS
The authors analyzed two SNPs that were significant in the previous study group, as well as seven additional SNPs within the gene. Association analyses for individual SNPs as well as haplotypes were performed.


RESULTS
There was no evidence of an association between SLC25A12 and autism.


CONCLUSIONS
These results suggest that SLC25A12 is not a major contributor to autism risk in these families.
Rabionet
Raquel
R
Center for Human Genetics, Department of Medicine, Duke University Medical Center, 595 LaSalle St., Durham, NC 27710, USA.
McCauley
Jacob L
JL
Jaworski
James M
JM
Ashley-Koch
Allison E
AE
Martin
Eden R
ER
Sutcliffe
James S
JS
Haines
Jonathan L
JL
DeLong
G Robert
GR
Abramson
Ruth K
RK
Wright
Harry H
HH
Cuccaro
Michael L
ML
Gilbert
John R
JR
Pericak-Vance
Margaret A
MA
D000328:Adult; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D002874:Chromosome Mapping; D005192:Family Health; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012307:Risk Factors
D005819:Genetic Markers; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; C114606:SLC25A12 protein, human