The Association of RAB18 Gene Polymorphism (rs3765133) with Cerebellar Volume in Healthy Adults

Cerebellum

Volumn 13, Issue 5, 2014, Pages 616-622

  Cheng, Chih Ya ^a   Yang, Albert C ^a,b,c   Huang, Chu Chung ^a   Liu, Mu En ^b   Liou, Ying Jay ^a,b   Wu, Jaw Ching ^a,b   Tsai, Shih Jen ^a,b   Lin, Ching Po ^a   Hong, Chen Jee ^a,b  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

^b TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^c NATIONAL CENTRAL UNIVERSITY   (Taiwan)

Author keywords

Cerebellum; Magnetic resonance imaging; Polymorphism; RAB18; Volumetry

Indexed keywords

RAB PROTEIN; RAB18 PROTEIN, HUMAN;

ADULT; ANATOMY AND HISTOLOGY; ANIMAL; CEREBELLUM; COHORT ANALYSIS; FEMALE; GENETICS; GENOTYPE; GRAY MATTER; HEMISPHERIC DOMINANCE; HUMAN; MALE; MIDDLE AGED; NUCLEAR MAGNETIC RESONANCE IMAGING; ORGAN SIZE; SINGLE NUCLEOTIDE POLYMORPHISM; YOUNG ADULT;

ADULT; ANIMALS; CEREBELLUM; COHORT STUDIES; FEMALE; FUNCTIONAL LATERALITY; GENOTYPE; GRAY MATTER; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; ORGAN SIZE; POLYMORPHISM, SINGLE NUCLEOTIDE; RAB GTP-BINDING PROTEINS; YOUNG ADULT;

EID: 84925766334     PISSN: 14734222     EISSN: 14734230     Source Type: Journal    
DOI: 10.1007/s12311-014-0579-y     Document Type: Article

References (47)

1. Westbury CF, Zatorre RJ, Evans AC. Quantifying variability in the planum temporale: a probability map. Cereb Cortex. 1999;9(4):392–405.
2. Amunts K, Malikovic A, Mohlberg H, Schormann T, Zilles K. Brodmann’s areas 17 and 18 brought into stereotaxic space—where and how variable? Neuroimage. 2000;11(1):66–84.
3. Geyer S, Schormann T, Mohlberg H, Zilles K. Areas 3a, 3b, and 1 of human primary somatosensory cortex. Part 2. Spatial normalization to standard anatomical space. Neuroimage. 2000;11 (6 Pt 1):684–96.
4. Carmelli D, DeCarli C, Swan GE, Jack LM, Reed T, Wolf PA, et al. Evidence for genetic variance in white matter hyperintensity volume in normal elderly male twins. Stroke. 1998;29(6):1177–81.
5. Pfefferbaum A, Sullivan EV, Swan GE, Carmelli D. Brain structure in men remains highly heritable in the seventh and eighth decades of life. Neurobiol Aging. 2000;1:63–74.
6. Bartley AJ, Jones DW, Weinberger DR. Genetic variability of human brain size and cortical gyral patterns. Brain. 1997;120(Pt 2):257–69.
7. Pennington BF, Filipek PA, Lefly D, Chhabildas N, Kennedy DN, Simon JH, et al. A twin MRI study of size variations in human brain. J Cogn Neurosci. 2000;12(1):223–32.
8. Reveley AM, Reveley MA, Chitkara B, Clifford C. The genetic basis of cerebral ventricular volume. Psychiatry Res. 1984;13(3):261–6.
9. Panizzon MS, Fennema-Notestine C, Eyler LT, Jernigan TL, Prom-Wormley E, Neale M, et al. Distinct genetic influences on cortical surface area and cortical thickness. Cereb Cortex. 2009;19(11):2728–35.
10. Woods CG, Bond J, Enard W. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet. 2005;76(5):717–28.
11. Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, et al. Loss-of-function mutations in RAB18 cause Warburg micro syndrome. Am J Hum Genet. 2011;88(4):499–507.
12. Warburg M, Sjo O, Fledelius HC, Pedersen SA. Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome Am J Dis Child. 1993;147(12):1309–12.
13. Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, et al. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet. 2005;37(3):221–3.
14. Abdel-Salam GM, Hassan NA, Kayed HF, Aligianis IA. Phenotypic variability in Micro syndrome: report of new cases. Genet Couns. 2007;18(4):423–35.
15. Morris-Rosendahl DJ, Segel R, Born AP, Conrad C, Loeys B, Brooks SS, et al. New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish. Eur J Hum Genet. 2010;18(10):1100–6.
16. Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, et al. Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. Hum Mutat. 2013;34(5):686–96.
17. Novick P, Zerial M. The diversity of Rab proteins in vesicle transport. Curr Opin Cell Biol. 1997;9(4):496–504.
18. Lutcke A, Parton RG, Murphy C, Olkkonen VM, Dupree P, Valencia A, et al. Cloning and subcellular localization of novel rab proteins reveals polarized and cell type-specific expression. J Cell Sci. 1994;107(Pt 12):3437–48.
19. Yu H, Leaf DS, Moore HP. Gene cloning and characterization of a GTP-binding Rab protein from mouse pituitary AtT-20 cells. Gene. 1993;132(2):273–8.
20. Ozeki S, Cheng J, Tauchi-Sato K, Hatano N, Taniguchi H, Fujimoto T. Rab18 localizes to lipid droplets and induces their close apposition to the endoplasmic reticulum-derived membrane. J Cell Sci. 2005;118(Pt 12):2601–11.
21. Martin S, Driessen K, Nixon SJ, Zerial M, Parton RG. Regulated localization of Rab18 to lipid droplets: effects of lipolytic stimulation and inhibition of lipid droplet catabolism. J Biol Chem. 2005;280(51):42325–35.
22. Martin S, Parton RG. Characterization of Rab18, a lipid droplet-associated small GTPase. Methods Enzymol. 2008;438:109–29.
23. Ayalew M, Le-Niculescu H, Levey DF, Jain N, Changala B, Patel SD, et al. Convergent functional genomics of schizophrenia: from comprehensive understanding to genetic risk prediction. Mol Psychiatry. 2012;17(9):887–905.
24. Sheehan DV, Lecrubier Y, Sheehan KH, Amorim P, Janavs J, Weiller E, et al. The Mini-International Neuropsychiatric Interview (M.I.N.I.): the development and validation of a structured diagnostic psychiatric interview for DSM-IV and ICD-10. The Journal of clinical psychiatry. 1998;59(20):22–33.
25. 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(3):189–98.
26. Wechsler D. Wechsler adult intelligence scale. Third Edition ed. San Antonio: The Psychological Corporation; 1997.
27. Oldfield RC. The assessment and analysis of handedness: the Edinburgh inventory. Neuropsychologia. 1971;9(1):97–113.
28. Chao-Gan Y, Yu-Feng Z. DPARSF: A MATLAB Toolbox for “Pipeline” Data Analysis of Resting-State fMRI. Frontiers in systems neuroscience. 2010;4:13.
29. Ashburner J, Friston KJ. Unified segmentation. NeuroImage. 2005;26(3):839–51.
30. Rodriguez Criado G, Rufo M. Gomez de Terreros I. A second family with Micro syndrome Clin Dysmorphol. 1999;8(4):241–5.
31. Pulido MR, Diaz-Ruiz A, Jimenez-Gomez Y, Garcia-Navarro S, Gracia-Navarro F, Tinahones F, et al. Rab18 dynamics in adipocytes in relation to lipogenesis, lipolysis and obesity. PLoS One. 2011;6(7):e22931.
32. Takase M, Ukena K, Yamazaki T, Kominami S, Tsutsui K. Pregnenolone, pregnenolone sulfate, and cytochrome P450 side-chain cleavage enzyme in the amphibian brain and their seasonal changes. Endocrinology. 1999;140(4):1936–44.
33. Ukena K, Usui M, Kohchi C, Tsutsui K. Cytochrome P450 side-chain cleavage enzyme in the cerebellar Purkinje neuron and its neonatal change in rats. Endocrinology. 1998;139(1):137–47.
34. Ukena K, Kohchi C, Tsutsui K. Expression and activity of 3beta-hydroxysteroid dehydrogenase/delta5-delta4-isomerase in the rat Purkinje neuron during neonatal life. Endocrinology. 1999;140(2):805–13.
35. Sakamoto H, Mezaki Y, Shikimi H, Ukena K, Tsutsui K. Dendritic growth and spine formation in response to estrogen in the developing Purkinje cell. Endocrinology. 2003;144(10):4466–77.
36. Sasahara K, Shikimi H, Haraguchi S, Sakamoto H, Honda S, Harada N, et al. Mode of action and functional significance of estrogen-inducing dendritic growth, spinogenesis, and synaptogenesis in the developing Purkinje cell. J Neurosci. 2007;27(28):7408–17.
37. de Leeuw R, Albuquerque RJ, Andersen AH, Carlson CR. Influence of estrogen on brain activation during stimulation with painful heat. J Oral Maxillofac Surg. 2006;64(2):158–66.
38. Nassogne MC, Henrot B, Saint-Martin C, Kadhim H, Dobyns WB, Sebire G. Polymicrogyria and motor neuropathy in Micro syndrome. Neuropediatrics. 2000;31(4):218–21.
39. Graham Jr JM, Hennekam R, Dobyns WB, Roeder E, Busch D. MICRO syndrome: an entity distinct from COFS syndrome. Am J Med Genet A. 2004;128A(3):235–45.
40. Ainsworth JR, Morton JE, Good P, Woods CG, George ND, Shield JP, et al. Micro syndrome in Muslim Pakistan children. Ophthalmology. 2001;108(3):491–7.
41. Derbent M, Agras PI, Gedik S, Oto S, Alehan F, Saatci U. Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome. Am J Med Genet A. 2004;128A(3):232–4.
42. Savitz J, Solms M, Ramesar R. The molecular genetics of cognition: dopamine. COMT and BDNF Genes Brain Behav. 2006;5(4):311–28.
43. Honea R, Verchinski BA, Pezawas L, Kolachana BS, Callicott JH, Mattay VS, et al. Impact of interacting functional variants in COMT on regional gray matter volume in human brain. Neuroimage. 2009;45(1):44–51.
44. Liu ME, Huang CC, Yang AC, Tu PC, Yeh HL, Hong CJ, et al. Effect of Bcl-2 rs956572 polymorphism on age-related gray matter volume changes. PLoS One.8 (2):e56663.
45. van der Heijden CD, Rijpkema M, Arias-Vasquez A, Hakobjan M, Scheffer H, Fernandez G, et al. Genetic variation in ataxia gene ATXN7 influences cerebellar grey matter volume in healthy adults. Cerebellum. 2013;12(3):390–5.
46. Tsai A, Huang CC, Yang AC, Liu ME, Tu PC, Hong CJ, et al. Association of BACE1 gene polymorphism with cerebellar volume but not cognitive function in normal individuals. Dement Geriatr Cogn Dis Extra. 2012;2(1):632–7.
47. Meyer-Lindenberg A, Weinberger DR. Intermediate phenotypes and genetic mechanisms of psychiatric disorders. Nat Rev Neurosci. 2006;7(10):818–27.