OBJECTIVE: Autism appears to have a strong genetic component. The product of the NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene is included in the mitochondrial electron transport chain. METHOD: We performed a case-control study of 235 patients with autism and 214 controls and examined three single-nucleotide polymorphisms (SNPs) within this gene in a Japanese population. We then conducted a transmission disequilibrium test (TDT) analysis in 148 autistic trios. RESULTS: In the case-control study, two SNPs (rs12666974 and rs3779262) showed a significant association with autism (P=0.00064 and 0.00046 respectively). Furthermore, a haplotype containing these two SNPs showed a significant association (P-global=0.0013, individual haplotype A-A: P=0.010). In TDT analysis, the global and A-A haplotype P-values also indicated significant associations. Minor allele and genotype frequencies were decreased in the autistic subjects. CONCLUSION: We found significant association between the NDFA5 gene and autism.
OBJECTIVE:Autism appears to have a strong genetic component. The product of the NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene is included in the mitochondrial electron transport chain. METHOD: We performed a case-control study of 235 patients with autism and 214 controls and examined three single-nucleotide polymorphisms (SNPs) within this gene in a Japanese population. We then conducted a transmission disequilibrium test (TDT) analysis in 148 autistic trios. RESULTS: In the case-control study, two SNPs (rs12666974 and rs3779262) showed a significant association with autism (P=0.00064 and 0.00046 respectively). Furthermore, a haplotype containing these two SNPs showed a significant association (P-global=0.0013, individual haplotype A-A: P=0.010). In TDT analysis, the global and A-A haplotype P-values also indicated significant associations. Minor allele and genotype frequencies were decreased in the autistic subjects. CONCLUSION: We found significant association between the NDFA5 gene and autism.
Authors: Marc Woodbury-Smith; Andrew D Paterson; Bhooma Thiruvahindrapduram; Anath C Lionel; Christian R Marshall; Daniele Merico; Bridget A Fernandez; Eric Duku; James S Sutcliffe; Irene O'Conner; Christina Chrysler; Ann Thompson; Barbara Kellam; Kristiina Tammimies; Susan Walker; Ryan K C Yuen; Mohammed Uddin; Jennifer L Howe; Morgan Parlier; Kathy Whitten; Peter Szatmari; Veronica J Vieland; Joseph Piven; Stephen W Scherer Journal: Hum Genet Date: 2014-11-29 Impact factor: 4.132
Authors: Farhad Bordbar; Just Jensen; Bo Zhu; Zezhao Wang; Lei Xu; Tianpeng Chang; Ling Xu; Min Du; Lupei Zhang; Huijiang Gao; Lingyang Xu; Junya Li Journal: PLoS One Date: 2019-10-10 Impact factor: 3.240
Authors: Shannon Rose; Dmitriy M Niyazov; Daniel A Rossignol; Michael Goldenthal; Stephen G Kahler; Richard E Frye Journal: Mol Diagn Ther Date: 2018-10 Impact factor: 4.074