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.

Background/Aim:To determine the frequency of celiac disease (CD)-predisposing human leukocyte antigen (HLA)-DQ genotypes in the Saudi population, where the prevalence of CD is 1.5% as recently reported in a mass screening study.Patients and Methods:In a cross-sectional population-based study, a total of 192 randomly selected healthy school children (97 females, mean age 10.5 ± 2.2 years, all negative for tissue transglutaminase-IgA) were typed for DQA1 and DQB1 genes by polymerase chain reaction sequence–specific oligonucleotide probes.Results:Of the 192 children, 52.7% carried the high-risk CD-associated HLA-DQ molecules: homozygous DQ2.5 ( 2.6%), DQ2.5/DQ2.2 ( 4.7%), heterozygous DQ2.5 ( 28.15%), homozygous DQ8 ( 4.2%), DQ8/DQ2.2 ( 3.6%), and double dose DQ2.2 ( 9.4%). Low-risk CD-associated HLA-DQ molecules (single dose DQ2.2 and heterozygous DQ8) constituted 3.6% and 9.4%, respectively. Among the very low–risk groups, individuals lacking alleles that contribute to DQ2/DQ8 variants (33.5%), 13.5% carried only one of the alleles of the high-risk HLA-DQ2.5 heterodimer called “half-heterodimer” (HLA-DQA1*05 in 12% and HLA-DQB1* 02 in 1.5%), and 20.8% lacked all the susceptible alleles (DQX.x). Gender distribution was not significantly different among the CD-risk groups.Conclusion:We report one of the highest frequencies of CD-predisposing HLA-DQ genotypes among healthy general populations (52.7%) worldwide, which might partly explain the high prevalence of CD in the Saudi community.

Aims Type 1 diabetes (T1D) is an autoimmune disease that affects many children worldwide. Genetic factors and environmental triggers play crucial interacting roles in the aetiology. This study aimed to assess the contribution of HLA‐DRB1‐DQA1‐DQB1 alleles, haplotypes, and genotypes to the risk of T1D among Saudis. Methods A total of 222 children with T1D and 342 controls were genotyped for HLA‐DRB1, ‐DQA1, and ‐DQB1 using reverse sequence‐specific oligonucleotide (rSSO) Lab Type high definition (HD) kits. Alleles, haplotypes, and diplotypes were compared between cases and controls using the SAS statistical package. Results DRB1*03:01‐DQA1*05:01‐DQB1*02:01 (32.4%; OR = 3.68; Pc < .0001), DRB1*04:05‐DQA1*03:02‐DQB1*03:02 (6.6%; OR = 6.76; Pc < .0001), DRB1*04:02‐DQA1*03:01‐DQB1*03:02 (6.0%; OR = 3.10; Pc = .0194), DRB1*04:01‐DQA1*03:01‐DQB1*03:02 (3.7%; OR = 4.22; Pc = .0335), and DRB1*04:05‐DQA1*03:02‐DQB1*02:02 (2.7%; OR = 6.31; Pc = .0326) haplotypes were significantly increased in cases compared to controls, whereas DRB1*07:01‐DQA1*02:01‐DQB1*02:02 (OR = 0.41; Pc = .0001), DRB1*13:01‐DQA1*01:03‐DQB1*06:03 (OR = 0.05; Pc < .0001), DRB1*15:01‐DQA1*01:02‐DQB1*06:02 (OR = 0.03; Pc < .0001), and DRB1*11:01‐DQA1*05:05‐DQB1*03:01 (OR = 0.07; Pc = .0291) were significantly decreased. Homozygous DRB1*03:01‐DQA1*05:01‐DQB1*02:01 genotypes and combinations of DRB1*03:01‐DQA1*05:01‐DQB1*02:01 with DRB1*04:05‐DQA1*03:02‐DQB1*03:02, DRB1*04:02‐DQA1*03:01‐DQB1*03:02, and DRB1*04:01‐DQA1*03:01‐DQB1*03:02 were significantly increased in cases than controls. Combinations of DRB1*03:01‐DQA1*05:01‐DQB1*02:01 with DRB1*07:01‐DQA1*02:01‐DQB1*02:02 and DRB1*13:02‐DQA1*01:02‐DQB1*06:04 showed low OR values but did not remain significantly decreased after Bonferroni correction. Conclusions HLA‐DRB1‐DQA1‐DQB1 alleles, haplotypes, and diplotypes in Saudis with T1D are not markedly different from those observed in Western and Middle‐Eastern populations but are quite different than those of East Asians.

Objectives It remains unknown what degree of risk is conferred by celiac disease (CD)‐predisposing human leukocyte antigen (HLA)‐DQ genotypes in Saudi Arabia compared with in Western countries. In this study, we aimed to determine the CD risk gradient associated with the HLA‐DQ genotypes and to compare HLA‐DQ genotypes between symptomatic patients with CD and screening‐identified asymptomatic CD patients. Methods We enrolled three groups of subjects, including 46 CD children diagnosed consecutively over the past 10 years, 54 CD children diagnosed during a mass screening of schoolchildren, and 192 healthy controls. All the participants were typed for the HLA‐DQA1 and HLA‐DQB1 genes by polymerase chain reaction sequence‐specific oligonucleotide probes. Results Comparing the patients with CD to controls, we identified 5 groups in the CD risk gradient: (i) very high risk associated with the DQ2.5/DQ8 genotype (odds ratio [OR] 46.93); (ii) high risk (homozygous DQ2.5, DQ2.5/DQ2.2; OR 4.12‐5.04); (iii) intermediate risk (heterozygous DQ2.5, DQ8/DQ2.2; OR 1.61 and 1.67); (iv) low risk (DQ8, DQ2.2); and (v) very low risk (DQ2.x, DQX.5, DQX.x). Heterozygous DQ8 was more common in screening‐identified group compared to symptomatic patients (13.0% vs 2.2%); however, other genotypes were very similar between the two groups. Conclusion The highest risk of developing CD in our Saudi Arabia population is associated with the DQ2.5/DQ8 genotype.

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