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.
journal_name
Folia Microbiol (Praha)journal_title
Folia microbiologicaauthors
Shawkatová I,Javor J,Párnická Z,Bucová M,Čopíková-Cudráková D,Michalík J,Gmitterová K,Čierny D,Buc M,Ďurmanová Vdoi
10.1007/s12223-017-0499-6subject
Has Abstractpub_date
2017-07-01 00:00:00pages
287-293issue
4eissn
0015-5632issn
1874-9356pii
10.1007/s12223-017-0499-6journal_volume
62pub_type
杂志文章abstract::The biochemical basis of a defective bioenergetic system was attempted to be determined in N,N'-dicyclohexylcarbodiimide (DCCD)-resistant mutant of Methanothermobacter thermautotrophicus. Components participating in the maintenance of methanoarchaeal membrane structure and function, such as the composition of the mixt...
journal_title:Folia microbiologica
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journal_title:Folia microbiologica
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journal_title:Folia microbiologica
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journal_title:Folia microbiologica
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更新日期:1987-01-01 00:00:00
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journal_title:Folia microbiologica
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doi:10.1007/s12223-019-00761-9
更新日期:2020-06-01 00:00:00
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