Contributions
Abstract: EP1471
Type: ePoster
Abstract Category: Pathology and pathogenesis of MS - 14 Genetics/Epigenetics
Introduction: GPC5 gene has been implicated in multiple sclerosis (MS) susceptibility polymorphism studies as well as in the pharmacogenomic GWAS (genome wide association study). It codes a glypican, a type of heparan sulfate proteoglycan that fulfills signaling functions in the extracellular matrix. Although, its exact mechanisms of action are still unknown, glypicans have been shown to contribute to neuronal development and function. A follow-up study successfully confirmed the connection between GPC5 single nucleotide polymorphisms (SNPs) and IFN-b responsiveness. The aim of our study was to determine the association of selected polymorphisms of GPC5 gene with the treatment approach of our MS patients.
Material: The study group consisted of 174 patients (50 males and 124 females, age from 19 to 61,), who were sequentially recruited from the neurology outpatient clinic of Clinical Hospital in Bialystok. All of them were relapsing-remitting MS patients undergoing immunomodulatory treatment, with EDSS ranging from 0 to 4,5.
Description of methods: The study was based on DNA analysis, that was extracted from the peripheral blood leukocytes using a classical salting out method. The SNP rs10492503 in the GPC5 gene were genotyped by TaqMan SNP genotyping assay using the real-time PCR method.
Results and conclusion: A strict correlation between the occurrence of allele T of rs10492503 polymorphism of GPC5 gene and sex and age of onset in MS patients was observed in our study. The male patients in the studied group with allele T were diagnosed earlier than female patients with the same allele (28 ± 0.94 vs. 34.4 ± 0.84, p < 0.01) and both, female and male patients with ancestral allele A (p < 0.01, p < 0.05). No significant association was found between clinical characteristics like scheme of treatment and EDSS scale changes. This result suggests, that the allele T of rs10492503 GPC5 gene can be a strong predictor of early-onset MS in male patients.
Disclosure:
Monika Chorąży: nothing to disclose
Natalia Wawrusiewicz-Kurylonek: nothing to disclose
Renata Posmyk: nothing to disclose
Joanna Gościk: nothing to disclose
Agata Zajkowska: nothing to disclose
Alina Kułakowska: nothing to disclose
Katarzyna Kapica-Topczewska: nothing to disclose
Michał Szczepański: nothing to disclose
Adam Jacek Krętowski: nothing to disclose
Jan Kochanowicz: nothing to disclose
Abstract: EP1471
Type: ePoster
Abstract Category: Pathology and pathogenesis of MS - 14 Genetics/Epigenetics
Introduction: GPC5 gene has been implicated in multiple sclerosis (MS) susceptibility polymorphism studies as well as in the pharmacogenomic GWAS (genome wide association study). It codes a glypican, a type of heparan sulfate proteoglycan that fulfills signaling functions in the extracellular matrix. Although, its exact mechanisms of action are still unknown, glypicans have been shown to contribute to neuronal development and function. A follow-up study successfully confirmed the connection between GPC5 single nucleotide polymorphisms (SNPs) and IFN-b responsiveness. The aim of our study was to determine the association of selected polymorphisms of GPC5 gene with the treatment approach of our MS patients.
Material: The study group consisted of 174 patients (50 males and 124 females, age from 19 to 61,), who were sequentially recruited from the neurology outpatient clinic of Clinical Hospital in Bialystok. All of them were relapsing-remitting MS patients undergoing immunomodulatory treatment, with EDSS ranging from 0 to 4,5.
Description of methods: The study was based on DNA analysis, that was extracted from the peripheral blood leukocytes using a classical salting out method. The SNP rs10492503 in the GPC5 gene were genotyped by TaqMan SNP genotyping assay using the real-time PCR method.
Results and conclusion: A strict correlation between the occurrence of allele T of rs10492503 polymorphism of GPC5 gene and sex and age of onset in MS patients was observed in our study. The male patients in the studied group with allele T were diagnosed earlier than female patients with the same allele (28 ± 0.94 vs. 34.4 ± 0.84, p < 0.01) and both, female and male patients with ancestral allele A (p < 0.01, p < 0.05). No significant association was found between clinical characteristics like scheme of treatment and EDSS scale changes. This result suggests, that the allele T of rs10492503 GPC5 gene can be a strong predictor of early-onset MS in male patients.
Disclosure:
Monika Chorąży: nothing to disclose
Natalia Wawrusiewicz-Kurylonek: nothing to disclose
Renata Posmyk: nothing to disclose
Joanna Gościk: nothing to disclose
Agata Zajkowska: nothing to disclose
Alina Kułakowska: nothing to disclose
Katarzyna Kapica-Topczewska: nothing to disclose
Michał Szczepański: nothing to disclose
Adam Jacek Krętowski: nothing to disclose
Jan Kochanowicz: nothing to disclose