Contributions
Abstract: EP1471
Type: Poster Sessions
Abstract Category: Pathology and pathogenesis of MS - Genetics/Epigenetics
Buckground: Multiple Sclerosis(MS) is the most studied demyelinating disease of the Central Nervous System, affecting mainly young adults. The role of HLA-DRB1*15:01 allele is well established in MS and confirmed in many Caucasian populations, the Hellenic included. Recently, carriage of DPB1*03 allele has been identified as another genetic predisposing factor for developing MS, in Hellenic and other Caucasian populations.
Objectives: In this study we aimed towards showing the DRB1* allele distribution in the cohort of Hellenic MS patients, who are positive for the DPB1*03 allele, in an attempt to clarify the putative interaction of these HLA-class-II groups.
Methods: A total of 70 MS outpatients were genotyped for DPB1* polymorphisms(140 alleles), and 20 of them for DRB1* polymorphisms(40 alleles), after obtaining formal consent. All patients were of Hellenic origin and diagnosed with clinically definite MS according to the McDonald criteria. HLA-genotyping was performed by Sequence Specific Oligonucleotide(SSO) technique. Statistical processing(SPSS V.21 software) included univariate analyses with chi-square tests (level of significance set at p=0.018 after Benjamini- Yekutieli correction).
Results: Our patients were predominantly women (64.3%), with mean age 38.1(+/- 11.4) years, and mean age of MS onset 29.6(+/- 11.4) years. DPB1*03:01 allele frequency was significantly increased in MS patients compared to controls(p=0.001). There were also trends towards increase of the DPB1*10(p=0.04) and DPB1*14 (p=0.05) alleles and towards reduction of DPB1*02(p=0.08), DPB1*13(p=0.09) and DPB1*17(p=0.08) alleles. Interestingly, no coexistence of DRB1*15:01 and DPB1*03:01 was found in any patient of our sample.
Conclusions: Although DRB1*15:01 allele has an established role in MS (risk, vit D, EBV, clinical phenotype, therapy response) there is inadequate information concerning the impact of DPB1* region in MS genetic burden and impact on clinical phenotype. Our observations are in accordance with recent studies, regarding increased DPB1*03:01 frequency in Caucasian and non-Caucasian MS patients. The total absence of the dominant HLADRB11*15 allele among patients with positive and most frequent HLADPB1*03allele enhances the possibility that it maybe has an independent role that has to be further studied in larger cohorts of MS patients, of various origins, aiming potentially at more individualized therapeutic decision-making in the future.
Disclosure: Artemiadis Artemios : nothing to disclose
Serafeim Katsavos : nothing to disclose
Maria Gontika : nothing to disclose
Charalambos Skarlis : nothing to disclose
Nikolaos Markoglou : nothing to disclose
Maria Anagnostouli : nothing to disclose
Abstract: EP1471
Type: Poster Sessions
Abstract Category: Pathology and pathogenesis of MS - Genetics/Epigenetics
Buckground: Multiple Sclerosis(MS) is the most studied demyelinating disease of the Central Nervous System, affecting mainly young adults. The role of HLA-DRB1*15:01 allele is well established in MS and confirmed in many Caucasian populations, the Hellenic included. Recently, carriage of DPB1*03 allele has been identified as another genetic predisposing factor for developing MS, in Hellenic and other Caucasian populations.
Objectives: In this study we aimed towards showing the DRB1* allele distribution in the cohort of Hellenic MS patients, who are positive for the DPB1*03 allele, in an attempt to clarify the putative interaction of these HLA-class-II groups.
Methods: A total of 70 MS outpatients were genotyped for DPB1* polymorphisms(140 alleles), and 20 of them for DRB1* polymorphisms(40 alleles), after obtaining formal consent. All patients were of Hellenic origin and diagnosed with clinically definite MS according to the McDonald criteria. HLA-genotyping was performed by Sequence Specific Oligonucleotide(SSO) technique. Statistical processing(SPSS V.21 software) included univariate analyses with chi-square tests (level of significance set at p=0.018 after Benjamini- Yekutieli correction).
Results: Our patients were predominantly women (64.3%), with mean age 38.1(+/- 11.4) years, and mean age of MS onset 29.6(+/- 11.4) years. DPB1*03:01 allele frequency was significantly increased in MS patients compared to controls(p=0.001). There were also trends towards increase of the DPB1*10(p=0.04) and DPB1*14 (p=0.05) alleles and towards reduction of DPB1*02(p=0.08), DPB1*13(p=0.09) and DPB1*17(p=0.08) alleles. Interestingly, no coexistence of DRB1*15:01 and DPB1*03:01 was found in any patient of our sample.
Conclusions: Although DRB1*15:01 allele has an established role in MS (risk, vit D, EBV, clinical phenotype, therapy response) there is inadequate information concerning the impact of DPB1* region in MS genetic burden and impact on clinical phenotype. Our observations are in accordance with recent studies, regarding increased DPB1*03:01 frequency in Caucasian and non-Caucasian MS patients. The total absence of the dominant HLADRB11*15 allele among patients with positive and most frequent HLADPB1*03allele enhances the possibility that it maybe has an independent role that has to be further studied in larger cohorts of MS patients, of various origins, aiming potentially at more individualized therapeutic decision-making in the future.
Disclosure: Artemiadis Artemios : nothing to disclose
Serafeim Katsavos : nothing to disclose
Maria Gontika : nothing to disclose
Charalambos Skarlis : nothing to disclose
Nikolaos Markoglou : nothing to disclose
Maria Anagnostouli : nothing to disclose