Folia Microbiologica

, Volume 62, Issue 4, pp 287–293 | Cite as

Analysis of ICAM1 gene polymorphism in Slovak multiple sclerosis patients

  • Ivana Shawkatová
  • Juraj Javor
  • Zuzana Párnická
  • Mária Bucová
  • Daniela Čopíková-Cudráková
  • Jozef Michalík
  • Karin Gmitterová
  • Daniel Čierny
  • Milan Buc
  • Vladimíra Ďurmanová
Article
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Abstract

Infiltration of immune cells into CNS is one of the essential events in multiple sclerosis (MS) development. Adhesion molecules like the intercellular adhesion molecule 1 (ICAM-1) play critical role in this process. Therefore, the ICAM1 gene containing two important single-nucleotide polymorphisms (SNPs) belongs to candidate loci with possible involvement in MS susceptibility and/or severity. The objective of our case-control study was to analyze the association of two functional ICAM1 polymorphisms rs1799969 (or G241R) and rs5498 (or K469E) with susceptibility to MS and evaluate their influence on the age at disease onset, severity, neurological disability and progression rate. Two hundred forty-eight MS subjects (mean 39.2 years) and 208 age-matched controls (mean 35.6 years) were involved in the study. Genotyping of ICAM1 rs1799969 and rs5498 SNPs was performed by PCR-RFLP. Presence of the rs3135388 polymorphism tagging the major MS risk allele HLA-DRB1*15:01 allele was determined as well. Our analysis revealed no statistically significant association of ICAM1 polymorphisms with risk of MS development in the Slovak population. Stratification of study cohorts by gender, age at onset and presence of the HLA-DRB1*15:01 risk allele showed only moderate changes. Correlation of clinical findings as age at onset, Kurtzke Expanded Disability Status Scale, Multiple Sclerosis Severity Score and progression index with ICAM1 genotypes in MS patients revealed no significant association; however, patients with earlier onset of MS showed slightly higher frequencies of the homozygous G allele at rs5498 in comparison to other genotypes (P = 0.04), suggesting that GG carriers tend to induce MS at an earlier age.

Keywords

Multiple Sclerosis Multiple Sclerosis Patient Expand Disability Status Scale Multiple Sclerosis Risk Multiple Sclerosis Susceptibility 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Notes

Acknowledgements

We thank all the patients and controls for their contribution. Mrs. Faragova is gratefully acknowledged for her technical assistance. The study was financially supported by the Grant VEGA No. 1/0810/12 of the Scientific Grant Agency of the Ministry of Education, Science, Research and Sport of the Slovak Republic and the Slovak Academy of Sciences.

Compliance with ethical standards

Informed written consent for enrolment in the study and for personal data management was obtained from each individual participating in the study in accordance with the International Ethical Guidelines. The study was approved by the Local Ethical Committee of the Faculty of Medicine, Comenius University in Bratislava and University Hospital in Bratislava, Slovakia, under the no. 1/0810/12 (Grant VEGA).

Conflict of interest

The authors declare that they have no conflicts of interest.

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Copyright information

© Institute of Microbiology, Academy of Sciences of the Czech Republic, v.v.i. 2017

Authors and Affiliations

  • Ivana Shawkatová
    • 1
  • Juraj Javor
    • 1
  • Zuzana Párnická
    • 1
  • Mária Bucová
    • 1
  • Daniela Čopíková-Cudráková
    • 2
  • Jozef Michalík
    • 3
  • Karin Gmitterová
    • 4
  • Daniel Čierny
    • 5
  • Milan Buc
    • 1
  • Vladimíra Ďurmanová
    • 1
  1. 1.Institute of Immunology, Faculty of MedicineComenius UniversityBratislavaSlovakia
  2. 2.1st Department of Neurology, Faculty of MedicineComenius University and University HospitalBratislavaSlovakia
  3. 3.Clinic of Neurology, Jessenius Faculty of Medicine in Martin and University HospitalComenius UniversityMartinSlovakia
  4. 4.2nd Department of Neurology, Faculty of MedicineComenius University and University HospitalBratislavaSlovakia
  5. 5.Department of Clinical Biochemistry, Jessenius Faculty of Medicine in Martin and University HospitalComenius UniversityMartinSlovakia

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