PMID- 29956690 OWN - NLM STAT- MEDLINE DCOM- 20181214 LR - 20220321 IS - 1998-4049 (Electronic) IS - 1319-3767 (Print) IS - 1319-3767 (Linking) VI - 24 IP - 5 DP - 2018 Sep-Oct TI - Genetic susceptibility for celiac disease is highly prevalent in the Saudi population. PG - 268-273 LID - 10.4103/sjg.SJG_551_17 [doi] AB - 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 D QA1 and D QB1 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. FAU - Al-Hussaini, Abdulrahman AU - Al-Hussaini A AD - Division of Pediatric Gastroenterology, Children's Specialized Hospital, King Fahad Medical City; College of Medicine, Alfaisal University; Prince Abdullah bin Khalid Celiac Disease Research Chair, Department of Pediatrics, Faculty of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia. FAU - Alharthi, Hanan AU - Alharthi H AD - Department of Pathology and Laboratory Medicine, Division of Immunology, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia. FAU - Osman, Awad AU - Osman A AD - Department of Pathology and Laboratory Medicine, Division of Immunology, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia. FAU - Eltayeb-Elsheikh, Nezar AU - Eltayeb-Elsheikh N AD - Department of Pathology and Laboratory Medicine, Division of Immunology, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia. FAU - Chentoufi, Aziz AU - Chentoufi A AD - Department of Immunology, University of Mohammed VI for health sciences, Casablanca, Morocco. LA - eng PT - Journal Article PL - India TA - Saudi J Gastroenterol JT - Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association JID - 9516979 RN - 0 (HLA-DQ Antigens) RN - 0 (HLA-DQ2 antigen) RN - 0 (HLA-DQ8 antigen) SB - IM CIN - Saudi J Gastroenterol. 2018 Sep-Oct;24(5):257-258. PMID: 30178779 MH - Alleles MH - Celiac Disease/epidemiology/*genetics MH - Child MH - Cross-Sectional Studies MH - Female MH - Genetic Predisposition to Disease/*epidemiology MH - Genotype MH - HLA-DQ Antigens/*genetics MH - Histocompatibility Testing/*methods MH - Humans MH - Male MH - Prevalence MH - Saudi Arabia/epidemiology PMC - PMC6152002 OTO - NOTNLM OT - Celiac disease OT - HLA typing OT - HLA-DQ2.5 OT - HLA-DQ8 OT - Saudi Arabia OT - genetic susceptibility COIS- There are no conflicts of interest EDAT- 2018/06/30 06:00 MHDA- 2018/12/15 06:00 PMCR- 2018/09/01 CRDT- 2018/06/30 06:00 PHST- 2018/06/30 06:00 [pubmed] PHST- 2018/12/15 06:00 [medline] PHST- 2018/06/30 06:00 [entrez] PHST- 2018/09/01 00:00 [pmc-release] AID - 235582 [pii] AID - SJG-24-268 [pii] AID - 10.4103/sjg.SJG_551_17 [doi] PST - ppublish SO - Saudi J Gastroenterol. 2018 Sep-Oct;24(5):268-273. doi: 10.4103/sjg.SJG_551_17.