HOXA1 A218G polymorphism is associated with smaller cerebellar volume in healthy humans: Experimental laboratory research

Journal of Neuroimaging

Volumn 19, Issue 4, 2009, Pages 353-358

  Canu, Elisa ^a   Boccardi, Marina ^a   Ghidoni, Roberta ^a   Benussi, Luisa ^a   Duchesne, Simon ^b,c   Testa, Cristina ^a   Binetti, Giuliano ^a   Frisoni, Giovanni B ^a  

^a IRCCS ISTITUTO CENTRO SAN GIOVANNI DI DIO FATEBENEFRATELLI   (Italy)

^b CENTRE DE RECHERCHE DE L INSTITUT UNIVERSITAIRE EN SANTÉ MENTALE DE QUÉBEC   (Canada)

^c UNIVERSITÉ LAVAL   (Canada)

Author keywords

Cerebellum; Hindbrain; Magnetic resonance imaging (MRI); Neurodevelopment; Neuroimaging

Indexed keywords

TRANSCRIPTION FACTOR HOXA10;

ADULT; AGED; ALLELE; ARTICLE; CELL VOLUME; CEREBELLUM; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GRAY MATTER; HETEROZYGOTE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; NORMAL HUMAN;

CEREBELLUM; CROSS-SECTIONAL STUDIES; FEMALE; FUNCTIONAL LATERALITY; GENE FREQUENCY; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; IMAGING, THREE-DIMENSIONAL; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NERVE FIBERS, UNMYELINATED; ORGAN SIZE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 70349507627     PISSN: 10512284     EISSN: 15526569     Source Type: Journal    
DOI: 10.1111/j.1552-6569.2008.00326.x     Document Type: Article

References (38)

1. Corder EH, Saunders AM, Strittmatter WJ, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 1993 261 : 921 923.
2. Scarmeas N, Habeck CG, Stern Y, et al. APOE genotype and cerebral blood flow in healthy young individuals. JAMA 2003 290 : 1581 1582.
3. Reiman EM, Caselli RJ, Yun LS, et al. Preclinical evidence of Alzheimer's disease in persons homozygous for the epsilon 4 allele for apolipoprotein E. N Engl J Med 1996 334 : 752 758.
4. Reiman EM, Caselli RJ, Chen K, et al. Declining brain activity in cognitively normal apolipoprotein E epsilon 4 heterozygotes: A foundation for using positron emission tomography to efficiently test treatments to prevent Alzheimer's disease. Proc Natl Acad Sci USA 2001 98 : 3334 3339.
5. Lufkin T, Dierich A, LeMeur M, et al. Disruption of the Hox-1.6 homeobox gene results in defects in a region corresponding to its rostral domain of expression. Cell 1991 66 : 1105 1119.
6. Chisaka O, Musci TS, Capecchi MR. Developmental defects of the ear, cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox gene Hox-1.6. Nature 1992 355 : 516 520.
7. Mark M, Lufkin T, Vonesch JL, et al. Two rhombomeres are altered in Hoxa-1 mutant mice. Development 1993 119 : 319 338.
8. Carpenter EM, Goddard JM, Chisaka O, et al. Loss of Hox-A1 (Hox-1.6) function results in the reorganization of the murine hindbrain. Development 1993 118 : 1063 1075.
9. Ingram JL, Stodgell CJ, Hyman SL, et al. Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders. Teratology 2000 62 : 393 405.
10. Li J, Tabor HK, Nguyen L, et al. Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families. Am J Med Genet 2002 114 : 24 30.
11. Devlin B, Bennett P, Cook EH Jr., et al. CPEA Genetics Network. Collaborative Programs of Excellence in Austism. No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network. Am J Med Genet (Neuropsychiatric Genet) 2002 114 : 667 672.
12. Talebizadeh Z, Bittel DC, Miles JH, et al. No association between HOXA1 and HOXB1 genes and autism spectrum disorders (ASD). J Med Genet 2002 39 : 70.
13. Collins JS, Schroer RJ, Bird J, et al. The HOXA1 A218G polymorphism and autism: lack of association in white and black patients from the South Carolina Autism Project. J Autism Dev Disord 2003 33 : 343 348.
14. Romano V, Cali F, Mirisola M, et al. Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients. Mol Psychiatry 2003 8 : 716 717.
15. Conciatori M, Stodgell CJ, Hyman SL, et al. Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism. Biol Psychiatry 2004 55 : 413 419.
16. Sen B, Sinha S, Ahmed S, et al. Lack of association of HOXA1 and HOXB1 variants with autism in the Indian population. Psychiatr Genet 2007 17 : 1.
17. Muscarella LA, Guarnieri V, Sacco R, et al. HOXA1 gene variants influence head growth rates in humans. Am J Med Genet B Neuropsychiatr Genet 2007 144 : 388 390.
18. Riello R, Sabattoli F, Beltramello A, et al. Brain volumes in healthy adults aged 40 years and over: a voxel-based morphometry study. Aging Clin Exp Res 2005 17 : 329 336.
19. Ashburner J, Csernansky JG, Davatzikos C, et al. Computer-assisted imaging to assess brain structure in healthy and diseased brains. Lancet Neurol 2003 2 : 79 88.
20. Friston KJ, Glaser DE, Henson RN, et al. Classical and Bayesian inference in neuroimaging: applications. Neuroimage 2002 16 : 484 512.
21. Evans AC, Kamber M, Collins DL, et al. An MR-based probabilistic atlas of neuroanatomy. In : Shorvon S, Fish D, Andermann F, Bydder GM, Stefan H, eds. Magnetic Resonance Scanning and Epilepsy : New York 1993 : 263 274.
22. Ashburner J, Neelin P, Collins DL, et al. Incorporating prior knowledge into image registration. Neuroimage 1997 6 : 344 352.
23. Good CD, Scahill RI, Fox NC, et al. Automatic differentiation of anatomical patterns in the human brain: validation with studies of degenerative dementias. Neuroimage 2002 17 : 29 46.
24. Hong YS, Kim SY, Bhattacharya A, et al. Structure and function of the Hox A1 human homeobox gene cDNA. Gene 1995 159 : 209 214.
25. Paraguison RC, Higaki K, Sakamoto Y, et al. Polyhistidine tract expansions in HOXA1 result in intranuclear aggregation and increased cell death. Biochem Biophys Res Commun 2005 336 : 1033 1039.
26. Paraguison RC, Higaki K, Yamamoto K, et al. Enhanced autophagic cell death in expanded polyhistidine variants of HOXA1 reduces PBX1-coupled transcriptional activity and inhibits neuronal differentiation. J Neurosci Res 2006 85 : 479 487.
27. Rossel M, Capecchi MR. Mice mutant for both Hoxa1 and Hoxb1 show extensive remodeling of the hindbrain and defects in craniofacial development. Development 1999 126 : 5027 5040.
28. Galluzzi S, Testa C, Boccardi M, et al. The Italian Brain Normative Archive of structural MR scans: clinical and neuropsychological features and norms for medial temporal atrophy and subcortical cerebrovascular disease. Alzheimer Dis Assoc Disord. 2008 (submitted for publication).
29. Noale M, Maggi S, Minicuci N, et al. Dementia and disability: impact on mortality. The Italian Longitudinal Study on Aging. Dement Geriatr Cogn Disord 2003 16 (1 7 14.
30. Folstein MF, Folstein SE, McHugh PR. "Mini-mental state." A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975 12 : 189 198.
31. Spinnler H and Tognoni G. Standardizzazione e taratura italiana di test neuropsicologici. Ital J Neurol Sci 1987 6 : 1 120.
32. Novelli G, Papagno C, Capitani E, et al. Tre test clinici di ricerca e produzione lessicale. Taratura su soggetti normali. Archivio di Psicologia, Neurologia e Psichiatria 1986 47 : 477 505.
33. Carlesimo GA, Caltagirone C, Gainotti G. The Mental Deterioration Battery: normative data, diagnostic reliability and qualitative analyses of cognitive impairment. The Group for the Standardization of the Mental Deterioration. Battery Eur Neurol 1996 36 : 378 384.
34. Giovagnoli AR, Del Pesce M, Mascheroni S, et al. Trail making test: normative values from 287 normal adult controls. Ital J Neurol Sci 1996 17 : 305 309.
35. Caffarra P, Vezzadini G, Dieci F, et al. Rey-Osterrieth complex figure: normative values in an Italian population sample. Neurol Sci 2002 22 : 443 447. (Pubitemid 34436807)
36. Brierley B, Shaw P, David AS. The human amygdala: a systematic review and meta-analysis of volumetric magnetic resonance imaging. Brain Res Brain Res Rev 2002 39 : 84 105 Review].
37. Edland SD, Xu Y, Plevak M, et al. Total intracranial volume: normative values and lack of association with Alzheimer's disease. Neurology 2002 59 : 272 274.
38. Geuze E, Vermetten E, Bremner JD. MR-based in vivo hippocampal volumetrics: 1. Review of methodologies currently employed. Mol Psychiatry 2005 10 : 147 159 Review]. (Pubitemid 40188511)