ABSTRACT. Hematogenous osteomyelitis (H O ) is a bone infectionwherein bacteria penetrate to the bone through the blood stream. Several single nucleotide polymorphisms (SNPs) have been associated with susceptibility to infectious diseases. In this study, we investigated the contribution of SNPs in interleukin (IL)-1B1 (rs16944), IL1A (rs1800587), IL1B (rs1143634), toll-like receptor (TLR)-2 (rs3804099), TLR4 (rs4986790), TLR4 (rs4986791), IL1R (rs2234650), tumor necrosis factor (TNF)-α (rs1800629), TNF (rs361525), and IL1RN (rs315952) towards the development of H O in Saudi patients and compared to healthy controls. Fifty-two patients diagnosed with H O and 103 healthy individuals were genotyped. The frequencies of genotypes GG (rs16944) and AA (rs16944) were lower and higher in patients [odds ratio (OR) = 0.34, Pc = 0.05] and controls (OR = 1.33, Pc = 0.05), respectively, suggesting that SNPs at this locus could alter H O susceptibility. In addition, the patients and controls exhibited lower and higher frequencies of the alleles G (rs16944) (OR = 0.43, Pc = 0.007) and A (rs16944) (OR = 2.32, Pc = 0.007), respectively. The expression of alleles C (rs3804099) and T (rs3804099) were higher in patients (OR = 2.05, Pc = 0.04) and controls (OR = 0.49, Pc = 0.04), respectively. In conclusion, SNPs at rs16944 and rs3804099 were found to be associated with H O in the Saudi population.

a b s t r a c tGenes encoding KIRs vary in frequency among different populations and ethnic groups. This study investigated the KIR gene frequency distribution in 148 healthy unrelated Saudi subjects and compared the results with other published findings. All inhibitory and activating KIR genes were present at variable frequencies, with A haplotype-associated genes (KIR2DL1, -2DL3, -3DL1, and KIR2DS4) being observed at higher frequencies (88.9-99.5%) than B haplotype-associated genes (KIR2DS1, -2DS2, -2DS3, -2DS5, -2DL5 and -2DL2) (31.1-70.1%). Thirty-one different KIR genotypes were observed, and AA genotypes displayed the highest frequency (18.2%). This Saudi population possesses similar KIR gene distributional characteristics to those reported in other neighboring populations (e.g., Lebanese) and shows disparities in certain genes and gene contents from other populations (e.g., Australian Aborigines). These findings can be used as a reference control in future studies evaluating the functional significance of the KIR genes and their associations with specific diseases. Ó

ABSTRACT. Osteomyelitis is a progressive bone infection disease caused by destructive immunological inflammatory reactions following new bone formation. Anti-inflammatory cytokines are a series of immunoregulatory molecules that control the pro-inflammatory cytokine response. In this study, we investigated 9 single nucleotide polymorphisms in 5 different cytokine/ cytokine receptor genes in hematogenous osteomyelitis (HO) patients, and compared their outcomes with normal healthy individuals. Sequence-specific forward and reverse primers and two TaqMan ® MGB probes with dyes (VIC™ and FAM™) that specifically detect Allele 1 and Allele 2 of each SNP were utilized. The genotypes CC (P = 0.009) and CT (P = 0.041) of SNP rs2070874, and alleles A (P = 0.044) and G of SNP rs1800871 were significantly different between the patients and healthy controls. The expression of the CC genotype or C allele at rs2070874 was a risk factor for HO development, with higher frequencies of CT and T being found in the control samples. The expression of the A allele of rs1800871 was also significantly higher in patients than in controls, and was therefore considered a risk factor.

ABSTRACT:There are few reported studies on Saudi population for human leukocyte antigens (HLA) genes. We investigated allele lineages (two-digit) and haplotype frequencies of HLA-A, -B, -C, -DRB1, and -DQB1 loci in 499 healthy unrelated individuals, selected from potential bone marrow transplant (BMT) families' donors at King Fahad Medical City (KFMC), Saudi Arabia (SA). Genotyping was performed by Sequence Specific Oligonucleotide Probe (SSOP) utilizing a Luminex-based method. Allele lineages and haplotype frequencies were evaluated along with principal component analysis (PCA) to compare findings with previously reported data on Arab related populations. A total of 18 allele lineages for HLA-A, 28 for -B, 14 for -C, 13 for -DRB1, and 5 for -DQB1 were detected. High values for linkage disequilibrium indicators were found for B:C (D′ = 0.86599) and DRB1:DQB1 (D′ = 0.89468) loci. Additionally, PCA results confirmed previous findings on this population, but also indicated some genetic distances from other Arab related populations. The present study helps in further investigations of this population in anthropological analysis and HLA-associated disease studies.KEY WORDS: HLA, allele, frequencies, Saudis CITATION: osman et al. hla-a, -B, -c, -dRB1, and -dQB1 allele lineages and haplotype Frequencies among saudis.

ABSTRACT:There are few reported studies on Saudi population for human leukocyte antigens (HLA) genes. We investigated allele lineages (two-digit) and haplotype frequencies of HLA-A, -B, -C, -DRB1, and -DQB1 loci in 499 healthy unrelated individuals, selected from potential bone marrow transplant (BMT) families' donors at King Fahad Medical City (KFMC), Saudi Arabia (SA). Genotyping was performed by Sequence Specific Oligonucleotide Probe (SSOP) utilizing a Luminex-based method. Allele lineages and haplotype frequencies were evaluated along with principal component analysis (PCA) to compare findings with previously reported data on Arab related populations. A total of 18 allele lineages for HLA-A, 28 for -B, 14 for -C, 13 for -DRB1, and 5 for -DQB1 were detected. High values for linkage disequilibrium indicators were found for B:C (D′ = 0.86599) and DRB1:DQB1 (D′ = 0.89468) loci. Additionally, PCA results confirmed previous findings on this population, but also indicated some genetic distances from other Arab related populations. The present study helps in further investigations of this population in anthropological analysis and HLA-associated disease studies.KEY WORDS: HLA, allele, frequencies, Saudis CITATION: osman et al. hla-a, -B, -c, -dRB1, and -dQB1 allele lineages and haplotype Frequencies among saudis.