The NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene variants are associated with autism.

Abstract:

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.

journal_name

Acta Psychiatr Scand

authors

Marui T,Funatogawa I,Koishi S,Yamamoto K,Matsumoto H,Hashimoto O,Jinde S,Nishida H,Sugiyama T,Kasai K,Watanabe K,Kano Y,Kato N

doi

10.1111/j.1600-0447.2010.01600.x

subject

Has Abstract

pub_date

2011-02-01 00:00:00

pages

118-24

issue

2

eissn

0001-690X

issn

1600-0447

pii

ACP1600

journal_volume

123

pub_type

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