{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T03:11:26Z","timestamp":1767928286354,"version":"3.49.0"},"reference-count":29,"publisher":"Wiley","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004054","name":"King Abdulaziz University of Saudi Arabia","doi-asserted-by":"publisher","award":["HiCi-1434-140-1"],"award-info":[{"award-number":["HiCi-1434-140-1"]}],"id":[{"id":"10.13039\/501100004054","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Disease Markers"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>Celiac disease (CD), a gluten intolerance disorder, was implicated to have 57 genetic susceptibility loci for Europeans but not for culturally and geographically distinct ethnic populations like Saudi Arabian CD patients. Therefore, we genotyped Saudi CD patients and healthy controls for three polymorphisms, that is, Phe196Ser in IRAK1, Trp262Arg in SH2B3, and Met518Thr in MMEL1 genes. Single locus analysis identified that carriers of the 518 Thr\/Thr (MMEL1) genotype conferred a 1.6-fold increased disease risk compared to the noncarriers (OR = 2.6; 95% CI: 1.22\u20135.54;<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><mml:mi>P<\/mml:mi><mml:mo>&lt;<\/mml:mo><mml:mn fontstyle=\"italic\">0.01<\/mml:mn><\/mml:math>). This significance persisted even under allelic (OR = 1.55; 95% CI: 1.05\u20132.28;<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M2\"><mml:mi>P<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn fontstyle=\"italic\">0.02<\/mml:mn><\/mml:math>) and additive (OR = 0.35; 95% CI: 0.17\u20130.71;<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M3\"><mml:mi>P<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn fontstyle=\"italic\">0.03<\/mml:mn><\/mml:math>) genetic models. However, frequencies for Trp262Arg (SH2B3) and Phe196Ser (IRAK1) polymorphisms were not significantly different between patients and controls. The overall best MDR model included Met518Thr and Trp262Arg polymorphisms, with a maximal testing accuracy of 64.1% and a maximal cross-validation consistency of 10 out of 10 (<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M4\"><mml:mi>P<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn fontstyle=\"italic\">0.0156<\/mml:mn><\/mml:math>). Allelic distribution of the 518 Thr\/Thr polymorphism in MMEL1 primarily suggests its independent and synergistic contribution towards CD susceptibility among Saudi patients. Lack of significant association of IRAK and SH2B3 gene polymorphisms in Saudi patients but their association in European groups suggests the genetic heterogeneity of CD.<\/jats:p>","DOI":"10.1155\/2015\/351673","type":"journal-article","created":{"date-parts":[[2015,12,30]],"date-time":"2015-12-30T16:00:58Z","timestamp":1451491258000},"page":"1-6","source":"Crossref","is-referenced-by-count":10,"title":["Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential Susceptibility Locus among Saudi Arabian Celiac Disease Patients"],"prefix":"10.1155","volume":"2015","author":[{"given":"Omar I.","family":"Saadah","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia"},{"name":"Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noor Ahmad","family":"Shaik","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Babajan","family":"Banaganapalli","sequence":"additional","affiliation":[{"name":"Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed A.","family":"Salama","sequence":"additional","affiliation":[{"name":"Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia"},{"name":"Department of Biology, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sameer E.","family":"Al-Harthi","sequence":"additional","affiliation":[{"name":"Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia"},{"name":"Department of Pharmacology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Wang","sequence":"additional","affiliation":[{"name":"Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia"},{"name":"BGI, Beishan Industrial Zone, Yantian District, Shenzhen 518083, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harbi A.","family":"Shawoosh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, King Fahd Armed Forces Hospital, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharifa A.","family":"Alghamdi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of 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