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Several studies have investigated the association of different HLA antigens with multiple sclerosis (MS). However, only few studies have considered the association of high-resolution HLA type and MS with none yet from Saudi Arabia. The aim of this study was to investigate the association of HLA class II alleles with MS in the Saudi population. We used next-generation sequencing to investigate HLA association with MS. This study was conducted at King Abdulaziz Medical City in Riyadh, Saudi Arabia. We found that several HLA-DRB1 and DQB1 alleles were associated with MS. These alleles included HLA-DRB1*15:01 (odds ratio [OR]: 3.01; 95%, confidence interval [CI]: 1.68-5.54; P = .0001), HLA-DQB1*02:01 (OR: 1.76; 95% CI: 1.20-2.58; P = .0022), HLA-DQB1*06:02 (OR: 3.52; 95% CI: 1.87-6.86; P < .0001), and HLA-DQB1*06:03 (OR: 2.42; 95% CI: 1.16-5.25; P = 0.01). Interestingly, HLA-DRB1*15:01 was associated with increased risk of previous relapses. In addition, HLA-DRB1*15:01 and HLA- DQB1*06:02 were found to be associated with lower vitamin D levels. This study provides insights on the association of different HLA alleles with clinical characteristics and outcome of MS among Saudis. These insights can have future implications for the clinical management of MS based on the patient genetic profile. [ABSTRACT FROM AUTHOR]

Mesenchymal stem cell (MSC) therapies for the treatment of diseases associated with inflammation and oxidative stress employ primarily bone marrow MSCs (BMMSCs) and other MSC types such as MSC from the chorionic villi of human term placentae (pMSCs). These MSCs are not derived from microenvironments associated with inflammation and oxidative stress, unlike MSCs from the decidua basalis of the human term placenta (DBMSCs). DBMSCs were isolated and then extensively characterized. Differentiation of DBMSCs into three mesenchymal lineages (adipocytes, osteocytes, and chondrocytes) was performed. Real-time polymerase chain reaction (PCR) and flow cytometry techniques were also used to characterize the gene and protein expression profiles of DBMSCs, respectively. In addition, sandwich enzyme-linked immunosorbent assay (ELISA) was performed to detect proteins secreted by DBMSCs. Finally, the migration and proliferation abilities of DBMSCs were also determined. DBMSCs were positive for MSC markers and HLA-ABC. DBMSCs were negative for hematopoietic and endothelial markers, costimulatory molecules, and HLA-DR. Functionally, DBMSCs differentiated into three mesenchymal lineages, proliferated, and migrated in response to a number of stimuli. Most importantly, these cells express and secrete a distinct combination of cytokines, growth factors, and immune molecules that reflect their unique microenvironment. Therefore, DBMSCs could be attractive, alternative candidates for MSC-based therapies that treat diseases associated with inflammation and oxidative stress. [ABSTRACT FROM AUTHOR]

Next generation sequencing (NGS) is a promising technique that can reveal the entire gene sequences and to the highest possible resolution without any phase ambiguities. We have used this technique to investigate the frequencies of HLA-A, -B, -C, - DRB1 and - DQB1 in a Saudi cohort of healthy individuals. We used NGS using the 454 genome sequence ( GS) FLX System and Conexio assign atf 454 software to human leukocyte antigen ( HLA) genotype eight class I and class II loci. A total of 158 healthy Saudi adults were analyzed. The most frequently observed allele for HLA-A was HLA-A*02:01:01:01 (13.6%); for HLA-B, HLA-B*50:01:01 (15.8%); for HLA-C, HLA-C*06:02:01:01 (18.7%); for HLA-DRB1, HLA-DRB1*07:01:01:01 (26.6%); and for HLA-DQB1, HLA-DQB1*02:01:01 (20.3%). The most common four loci haplotypes in the Saudi population were HLA-A*24:02:01:01-B*08:01:01-C*07:02:01:01- DRB1*03:01:01:01 and HLA-A*23:01:01-B*50:01:01-C*06:02:01:01- DRB1*07:01:01:01.. We have used a highly informative technique for HLA typing of a Saudi healthy cohort to establish allele and haplotype frequencies. These results should prove useful for population studies, disease associations and future planning of the unrelated bone marrow donor registry. [ABSTRACT FROM AUTHOR]

Spinal muscular atrophy (SMA) is a common, often fetal, autosomal recessively inherited disease leading to progressive muscle wasting and paralysis as a result of degeneration of anterior horn cells of the spinal cord. The SMA-determining gene, called the survival of motor neuron gene (SMN), is present on 5q13 in two nearly identical copies, telomericSMN(SMN1) and centromericSMN(SMN2). It has been established that SMA is caused by mutations inSMN1whereas homozygous deletion ofSMN2has apparently no pathological consequences. The aim of this study is to develop an easy and inexpensive method for the isolation of high-quality template DNA from blood samples for SMA carrier screening by multiplex polymerase chain reaction. We have developed a protocol that optimizes detection of theSMN1copy number in the human genome, producing a specific and sensitive assay using DNA extracted from a dried blood spot on IsoCode™ paper. [ABSTRACT FROM AUTHOR]

We evaluated 1400 randomly selected Saudi children in grades 1 through 9 to determine the prevalence of migraine and tension-type headache. Of the 1400 distributed questionnaires, 1181 (84.3%) were completed properly and so served as the basis for analysis. There were 573 boys (48.5%) and 608 girls (51.5%). Ages ranged from 6 to 18 years. Five hundred eighty-eight children (49.8%; 272 boys and 316 girls) had recurrent headache episodes not related to febrile illness in the year preceding the survey. Eighty-four children (7.1%; 37 boys and 47 girls) had recurrent episodes of migraine, and 504 (42.7%; 232 boys and 272 girls) had recurrent episodes of nonmigraine headache. For both boys and girls, the age-specific prevalence rate for nonmigraine headache rose steadily from around 15% at aged 6 to 7 years to nearly 60% after aged 15. For migraine, there was a sharp increase in the prevalence rate (from around 2% to around 9%) at aged 10 to 11, also in both boys and girls. Age-adjusted prevalence for migraine between aged 6 and 15 was 6.2%. Due to the relatively poor sensitivity of some of the IHS criteria in children, this figure may underestimate the true magnitude of migraine in the population studied. [ABSTRACT FROM AUTHOR]

The HLA-B50 serologic family is very frequent in people of Arabic origin. In Saudi Arabia, HLA- B50 is the most frequent HLA- B allele. The aim of this study was to investigate the distribution of HLA- B50 alleles in healthy Saudi individuals. A total of 162 healthy Saudi individuals were selected based on low-resolution HLA typing. DNA samples were typed by sequence-based typing method for exons 2, 3 and 4 of the HLA- B locus (Genome Diagnostics B.V.). The HLA- B*50 alleles were analysed using SBT engine software. HLA-B*50:01:01 was found in 161 of 162 individuals (99.4%), while HLA- B*50:09 was found in one individual (0.6%). HLA-B*50:01:01 is the most common HLA- B50 allele in Saudi Arabia. [ABSTRACT FROM AUTHOR]

Three new HLA-C alleles were identified by sequence-based typing method ( SBT) in donors for the Saudi Bone Marrow Donor Registry ( SBMDR). HLA-C*14:02:13 differs from HLA-C*14:02:01 by a silent G to A substitution at nucleotide position 400 in exon 2, where lysine at position 66 remains unchanged. HLA-C*15:72 differs from HLA-C*15:22 by a nonsynonymous C to A substitution at nucleotide position 796 in exon 3, resulting in an amino acid change from phenylalanine to leucine at position 116. HLA-C*15:74 differs from HLA-C*15:08 by a nonsynonymous C to T substitution at nucleotide position 914 in exon 3, resulting in an amino acid change from arginine to tryptophan at position 156. [ABSTRACT FROM AUTHOR]

In this report, we present two novel HLA-A alleles: HLA-A*02:433 and HLA-A*02:434. These alleles were identified by sequence-based typing method ( SBT), in two donors for the Saudi Bone Marrow Donor Registry ( SBMDR). Allele A*02:433 is identical to A*02:05:01G except for a G to A substitution at nucleotide position 449 in exon 2. This substitution results in glycine to serine substitution at position 83. Whereas, allele A*02:434 is identical to A*02:01:01G except for a C to A substitution at nucleotide position 245 in exon 2, which results in phenylalanine to threonine substitution at position 15. The generation of both alleles appears to be the result of nucleotide point mutation involving 02:01:01 and 02:05:01. [ABSTRACT FROM AUTHOR]

Two new HLA- DRB1 alleles were identified by sequence-based typing method ( SBT) in 1100 participants in the Saudi Stem Cell Donor Registry. HLA- DRB1*11:150 differs from HLA- DRB1*11:01:01G by a single C to A substitution at nucleotide position 5580 in exon 2, resulting in an amino acid change from alanine to glutamic acid at position 74. HLA- DRB1*14:145 differs from HLA- DRB1*14:04 by a C to G substitution at nucleotide position 5511 in exon 2, resulting in an amino acid change from threonine to arginine at position 51. [ABSTRACT FROM AUTHOR]