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

来源：

ACTA PSYCHIATRICA SCANDINAVICA | 2011年 / 123卷 / 02期

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

页码：118 / 124

页数：7

共 24 条

[1] AUTISM AS A STRONGLY GENETIC DISORDER - EVIDENCE FROM A BRITISH TWIN STUDY [J].

BAILEY, A ;

LECOUTEUR, A ;

GOTTESMAN, I ;

BOLTON, P ;

SIMONOFF, E ;

YUZDA, E ;

RUTTER, M .

PSYCHOLOGICAL MEDICINE, 1995, 25 (01) :63-77

[2] Haploview: analysis and visualization of LD and haplotype maps [J].

Barrett, JC ;

Fry, B ;

Maller, J ;

Daly, MJ .

BIOINFORMATICS, 2005, 21 (02) :263-265

[3] Common and rare variants in multifactorial susceptibility to common diseases [J].

Bodmer, Walter ;

Bonilla, Carolina .

NATURE GENETICS, 2008, 40 (06) :695-701

[4] Association study designs for complex diseases [J].

Cardon, LR ;

Bell, JI .

NATURE REVIEWS GENETICS, 2001, 2 (02) :91-99

[5] Transmission/disequilibrium tests for extended marker haplotypes [J].

Clayton, D ;

Jones, H .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) :1161-1169

[6] From age correction to genome-wide association [J].

Cohen-Woods, S. ;

Schosser, A. ;

McGuffin, P. .

ACTA PSYCHIATRICA SCANDINAVICA, 2009, 120 (05) :355-362

[7] AUTISM AND LACTIC-ACIDOSIS [J].

COLEMAN, M ;

BLASS, JP .

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 1985, 15 (01) :1-8

[8] Mitochondrial dysfunction in autistic patients with 15q inverted duplication [J].

Filipek, PA ;

Juranek, J ;

Smith, M ;

Mays, LZ ;

Ramos, ER ;

Bocian, M ;

Masser-Frye, D ;

Laulhere, TM ;

Modahl, C ;

Spence, MA ;

Gargus, JJ .

ANNALS OF NEUROLOGY, 2003, 53 (06) :801-804

[9] Genetics of autism: Complex aetiology for a heterogeneous disorder [J].

Folstein, SE ;

Rosen-Sheidley, B .

NATURE REVIEWS GENETICS, 2001, 2 (12) :943-955

[10] The structure of haplotype blocks in the human genome [J].

Gabriel, SB ;

Schaffner, SF ;

Nguyen, H ;

Moore, JM ;

Roy, J ;

Blumenstiel, B ;

Higgins, J ;

DeFelice, M ;

Lochner, A ;

Faggart, M ;

Liu-Cordero, SN ;

Rotimi, C ;

Adeyemo, A ;

Cooper, R ;

Ward, R ;

Lander, ES ;

Daly, MJ ;

Altshuler, D .

SCIENCE, 2002, 296 (5576) :2225-2229

← 1 2 3 →