The Cerebellum

, Volume 13, Issue 5, pp 616–622

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

  • Chih-Ya Cheng
  • Albert C. Yang
  • Chu-Chung Huang
  • Mu-En Liu
  • Ying-Jay Liou
  • Jaw-Ching Wu
  • Shih-Jen Tsai
  • Ching-Po Lin
  • Chen-Jee Hong
Original Paper

DOI: 10.1007/s12311-014-0579-y

Cite this article as:
Cheng, CY., Yang, A.C., Huang, CC. et al. Cerebellum (2014) 13: 616. doi:10.1007/s12311-014-0579-y

Abstract

Genetic factors are responsible for the development of the human brain. Certain genetic factors are known to increase the risk of common brain disorders and affect the brain structure. Therefore, even in healthy people, these factors have a role in the development of specific brain regions. Loss-of-function mutations in the RAB18 gene (RAB18) cause Warburg Micro syndrome, which is associated with reduced brain size and deformed brain structures. In this study, we hypothesized that the RAB18 variant might influence regional brain volumes in healthy people. The study participants comprised 246 normal volunteers between 21 and 59 years of age (mean age of 37.8 ± 12.0 years; 115 men, 131 women). Magnetic resonance imaging (MRI) and genotypes of RAB18 rs3765133 were examined for each participant. The differences in regional brain volumes between T homozygotes and A-allele carriers were tested using voxel-based morphometry. The results showed that RAB18 rs3765133 T homozygote group exhibited larger gray matter (GM) volume in the left middle temporal and inferior frontal gyrus of the cerebrum than the A-allele carriers. An opposite effect was observed in both the posterior lobes and right tonsil of the cerebellum, in which the GM volume of RAB18 rs3765133 T homozygotes was smaller than that of the A-allele carriers (all PFWE < 0.05). Our findings suggest that RAB18 rs3765133 polymorphism affects the deve-lopment of specific brain regions, particularly the cerebellum, in healthy people.

Keywords

RAB18VolumetryPolymorphismCerebellumMagnetic resonance imaging

Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Chih-Ya Cheng
    • 1
  • Albert C. Yang
    • 2
    • 5
    • 7
  • Chu-Chung Huang
    • 8
  • Mu-En Liu
    • 2
  • Ying-Jay Liou
    • 2
    • 5
  • Jaw-Ching Wu
    • 1
    • 3
    • 4
  • Shih-Jen Tsai
    • 2
    • 5
  • Ching-Po Lin
    • 8
    • 9
  • Chen-Jee Hong
    • 2
    • 5
    • 6
  1. 1.Institute of Clinical MedicineNational Yang-Ming UniversityTaipeiTaiwan
  2. 2.Department of PsychiatryTaipei Veterans General HospitalTaipeiTaiwan
  3. 3.Institute of Clinical Medicine and Cancer Research CenterTaipei Veterans General HospitalTaipeiTaiwan
  4. 4.Department of Medical Research and EducationTaipei Veterans General HospitalTaipeiTaiwan
  5. 5.Division of Psychiatry, School of MedicineNational Yang-Ming UniversityTaipeiTaiwan
  6. 6.Institute of Brain Science, School of MedicineNational Yang-Ming UniversityTaipeiTaiwan
  7. 7.Center for Dynamical Biomarkers and Translational MedicineNational Central UniversityChungliTaiwan
  8. 8.Department of Biomedical Imaging and Radiological SciencesNational Yang-Ming UniversityTaipeiTaiwan
  9. 9.Institute of Neuroscience, School of Life ScienceNational Yang-Ming UniversityTaipeiTaiwan