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

被引:25
作者
Marui, T. [1 ,2 ]
Funatogawa, I. [3 ]
Koishi, S. [4 ]
Yamamoto, K. [5 ]
Matsumoto, H. [6 ]
Hashimoto, O. [7 ]
Jinde, S. [1 ]
Nishida, H. [8 ]
Sugiyama, T. [4 ]
Kasai, K. [1 ]
Watanabe, K. [9 ]
Kano, Y. [9 ]
Kato, N. [1 ]
机构
[1] Univ Tokyo, Grad Sch Med, Dept Neuropsychiat, Tokyo 1130033, Japan
[2] Univ Tokyo, Grad Sch Frontier Sci, Dept Med Genome Sci, Tokyo 1130033, Japan
[3] Teikyo Univ, Sch Med, Dept Hyg & Publ Hlth, Tokyo 173, Japan
[4] Aichi Childrens Hlth & Med Ctr, Obu, Japan
[5] Kitasato Univ, Sch Med, Dept Psychiat, Sagamihara, Kanagawa 228, Japan
[6] Tokai Univ, Sch Med, Dept Psychiat, Isehara, Kanagawa 25911, Japan
[7] Aino Univ, Fac Nursing & Rehabil, Dept Occupat Therapy, Ibaraki, Japan
[8] Asunaro Hosp Child & Adolescent Psychiat, Tsu, Mie, Japan
[9] Univ Tokyo, Sch Med, Dept Child Psychiat, Tokyo 1130033, Japan
关键词
association study; autism; haplotype block; NDUFA5; gene; COMPLEX DISEASES; NO ASSOCIATION; RARE VARIANTS; DISORDER; HAPLOTYPES; ETIOLOGY; GENOME; TWIN;
D O I
10.1111/j.1600-0447.2010.01600.x
中图分类号
R749 [精神病学];
学科分类号
100205 ;
摘要
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.
引用
收藏
页码:118 / 124
页数:7
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