Abstract: EP1478
Type: ePoster
Abstract Category: Pathology and pathogenesis of MS - 14 Genetics/Epigenetics
Background: Considerable epidemiological and laboratory data have shown that Multiple sclerosis (MS) results from a complex interaction between genetic and environmental factors. To better understand the mechanisms among the genetic variations and susceptibility to the disease, the familial form of MS (ffMS) are being studied.
Objective: To investigate, regarding susceptibility to MS, the association between HLA type II allele and five differents Single Nucleotide Polymorphisms (SNPs) in genes Interleukin 7 receptor alpha (IL7Ra), Estrogen receptor (ESR), Vitamin D receptor (VDR) and CIITA.
Methods: A case-control study was conduct with a miscigenated sample of 29 Brazilian familial MS patients (22 females and 7 males, 26 of whom were white, and 3 were black) from referral centers in Rio de Janeiro-Brazil, and 296 free disease controls (200 females and 96 males). DRB1*15:01 allele and SNPs in genes IL7Ra (rs6897932), VDR (rs731236), ESR (rs1033182) and CIITA (rs3087456; rs4774) were assessed by techniques of PCR, electrophoresis and DNA sequencing. In the association analysis, it was used Qui-square test.
Results: DRB1*15:01 allele was significantly more frequent in Familial MS patients (62% vs. 7.4%, p< 0.001). In addition, all studied SNPs were more frequent in the free disease group (rs6897932 IL7Ra: 27.5% vs. 32%, p=0.61; rs731236 VDR: 27.5% vs. 55%, p=0.004; rs1033182 ESR: 31.8% vs. 50.6 %, p=0.006; rs3087456 CIITA: 17.2% vs. 44.2%, p=0.004; rs4774 CIITA: 7.4% vs. 43.2%, p=0.0001), which shows a tendency of non-association with ffMS, in the miscigenated Brazilian sample of patients.
Moreover, in these patients with Familial MS, no association was found between the presence or not of HLA DRB1 15*01 allele and frequency of SNPs rs6897932 IL7Ra (33% vs. 18.1%, p=0.37), rs731236 VDR (33% vs. 18.1%, p=0.375), rs1033182 ESR (22.2% vs. 27.2%, p=0.757), rs4774 CIITA (11% vs. 9%, p=0.86), and rs3087456 CIITA (11% vs. 27.2%, p=0.263).
Conclusion: A strong association between ffMS and the presence of the DRB1 15*01 allele was evidenced, suggesting that, in a miscigenated population such as Brazil, this is the most related factor with disease susceptibility, more than the studied SNPs.
No association between those SNPs and disease was found in the small sample of ffMS patients. Therefore, more studies with a larger sample should be implemented.
Disclosure:
Claudia Vasconcelos: nothing to disclose
Pedro Thiago F. Alves: nothing to disclose
Eduardo Paradela: nothing to disclose
Regina Maria Papais Alvarenga: nothing to disclose
Melina Bernardes: nothing to disclose
Marcos Papais Alvarenga: nothing to disclose
Abstract: EP1478
Type: ePoster
Abstract Category: Pathology and pathogenesis of MS - 14 Genetics/Epigenetics
Background: Considerable epidemiological and laboratory data have shown that Multiple sclerosis (MS) results from a complex interaction between genetic and environmental factors. To better understand the mechanisms among the genetic variations and susceptibility to the disease, the familial form of MS (ffMS) are being studied.
Objective: To investigate, regarding susceptibility to MS, the association between HLA type II allele and five differents Single Nucleotide Polymorphisms (SNPs) in genes Interleukin 7 receptor alpha (IL7Ra), Estrogen receptor (ESR), Vitamin D receptor (VDR) and CIITA.
Methods: A case-control study was conduct with a miscigenated sample of 29 Brazilian familial MS patients (22 females and 7 males, 26 of whom were white, and 3 were black) from referral centers in Rio de Janeiro-Brazil, and 296 free disease controls (200 females and 96 males). DRB1*15:01 allele and SNPs in genes IL7Ra (rs6897932), VDR (rs731236), ESR (rs1033182) and CIITA (rs3087456; rs4774) were assessed by techniques of PCR, electrophoresis and DNA sequencing. In the association analysis, it was used Qui-square test.
Results: DRB1*15:01 allele was significantly more frequent in Familial MS patients (62% vs. 7.4%, p< 0.001). In addition, all studied SNPs were more frequent in the free disease group (rs6897932 IL7Ra: 27.5% vs. 32%, p=0.61; rs731236 VDR: 27.5% vs. 55%, p=0.004; rs1033182 ESR: 31.8% vs. 50.6 %, p=0.006; rs3087456 CIITA: 17.2% vs. 44.2%, p=0.004; rs4774 CIITA: 7.4% vs. 43.2%, p=0.0001), which shows a tendency of non-association with ffMS, in the miscigenated Brazilian sample of patients.
Moreover, in these patients with Familial MS, no association was found between the presence or not of HLA DRB1 15*01 allele and frequency of SNPs rs6897932 IL7Ra (33% vs. 18.1%, p=0.37), rs731236 VDR (33% vs. 18.1%, p=0.375), rs1033182 ESR (22.2% vs. 27.2%, p=0.757), rs4774 CIITA (11% vs. 9%, p=0.86), and rs3087456 CIITA (11% vs. 27.2%, p=0.263).
Conclusion: A strong association between ffMS and the presence of the DRB1 15*01 allele was evidenced, suggesting that, in a miscigenated population such as Brazil, this is the most related factor with disease susceptibility, more than the studied SNPs.
No association between those SNPs and disease was found in the small sample of ffMS patients. Therefore, more studies with a larger sample should be implemented.
Disclosure:
Claudia Vasconcelos: nothing to disclose
Pedro Thiago F. Alves: nothing to disclose
Eduardo Paradela: nothing to disclose
Regina Maria Papais Alvarenga: nothing to disclose
Melina Bernardes: nothing to disclose
Marcos Papais Alvarenga: nothing to disclose