Towards establishing a multiple sclerosis biobank in Jordan.

Genome-wide association studies (GWAS) have been a promising approach in unraveling genetic associations to multiple sclerosis (MS), a complex, multifactorial disease. Biobanks are repositories of patient biospecimens and information that can promote GWAS research. However, the success of GWAS and biobanking is dependent on the level of participation of MS patients in genetic research. In order to initiate MS-based biobanking and GWAS research in Jordan, the willingness of MS patients to participate in long-term, genetic research in Jordan and their preferred type of a consent form were investigated. MS patients (289) were recruited for genetic studies. Personal and clinical information were collected from those who enrolled in the study. Approximately 96% of MS patients agreed to participate in genetic studies. The female:male ratio among patients was 2:1 with most patients being diagnosed with relapsing-remitting MS (88%). The mean age of onset was 28.3 years, the mean duration of illness was 6 years, and the mean Expanded Disability Status Scale was 2.8. Relatedness of parents was significantly associated with having secondary-progressive MS. Approximately 85% of the patients preferred open consent with 37% of them preferring to renew their consent. All the patients approved to be recontacted and update their information via accessing their medical files or physicians. These observations support the establishment of a specialized MS biobank in Jordan and pave the way to participate in international large-scale genetic initiatives.

The promoter SNP, but not the alternative splicing SNP, is linked to multiple sclerosis among Jordanian patients.

Multiple sclerosis is a chronic inflammatory autoimmune disease of the human central nervous system. A number of studies with compelling evidence have provided correlation between single nucleotide polymorphisms in interleukin-7 receptor alpha and multiple sclerosis (MS) in several populations. One such variation, rs6897932, is located within the coding region and results in the generation of a soluble receptor, whereas another one, rs11567685, is located in the promoter region and affects gene expression. In this study, we investigated the frequencies of these two SNPs and their association to MS in 200 healthy controls and 200 MS patients based on a simple PCR-RFLP strategy not reported previously. The frequencies of the high risk alleles for both SNPs were in a high range among healthy and MS subjects relative to previous studies. In addition, whereas no association was found between the alternative splicing SNP, rs6897932, and MS, a significant link was found between the promoter SNP, rs11567685, and MS. These results are in contrast to other studies and may have important implications as to the molecular contribution of IL-7Rα in multiple sclerosis.