{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,22]],"date-time":"2025-11-22T11:02:44Z","timestamp":1763809364269},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,1,30]],"date-time":"2015-01-30T00:00:00Z","timestamp":1422576000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int J Immunogenetics"],"published-print":{"date-parts":[[2015,4]]},"abstract":"Summary<\/jats:title>Beh\u00e7et's disease (BD<\/jats:styled-content>) is a multisystem inflammatory disease characterized by recurrent orogenital ulceration, ocular inflammation and skin lesions. Reduced plasma nitric oxide (NO<\/jats:styled-content>) levels in patients with BD<\/jats:styled-content> have been implicated in the development of the endothelial abnormalities and thrombotic complications occurring in these patients. Polymorphisms in the endothelial nitric oxide synthase gene (NOS<\/jats:styled-content>3) have been inconsistently associated with BD<\/jats:styled-content>. This inconsistency may derive from population stratification secondary to ethnic diversity, and consideration limited to only one rather than combinations of polymorphisms. We studied three genetic variations in the NOS<\/jats:styled-content>3 gene: a single nucleotide polymorphism in the promoter region \u2212786T>C, in exon 7 (Glu298Asp), and a variable number of tandem repeats in intron 4 (4a4b) of the NOS<\/jats:styled-content>3 gene in 100 unrelated Tunisian patients with BD<\/jats:styled-content> and 148 healthy controls. In addition, we also examined the association of NOS<\/jats:styled-content>3 gene haplotypes with BD<\/jats:styled-content>. Analyses of the Glu298Asp, \u2212786T>C and 4a4b polymorphisms were made by the polymerase chain reaction (PCR<\/jats:styled-content>) restriction fragment length polymorphism technique and PCR<\/jats:styled-content> genotyping, respectively. The distribution of the Glu298Asp genotype differed significantly between patients with BD<\/jats:styled-content> and controls (P<\/jats:italic>\u00a0=\u00a00.01). Allele Asp298 was significantly more frequent in patients with BD<\/jats:styled-content> than in controls (P<\/jats:italic>\u00a0=\u00a00.005, OR<\/jats:styled-content>\u00a0=\u00a01.70, 95% CI<\/jats:styled-content> 1.14\u20132.54). In contrast, distribution of alleles and genotypes of \u2212786T>C and 4a4b polymorphisms was not different between the control and BD<\/jats:styled-content> group. However, the frequency of Asp\u2010T\u20104b haplotype was significantly higher in patients with BD<\/jats:styled-content> than in healthy controls. By gender, the signification remained only for heterozygous men (P<\/jats:italic>\u00a0=\u00a00.03) and homozygous women (P<\/jats:italic>\u00a0=\u00a00.02). These results suggest that Glu298Asp polymorphism of the NOS<\/jats:styled-content>3 gene is associated with BD<\/jats:styled-content> susceptibility in Tunisian patients.<\/jats:p>","DOI":"10.1111\/iji.12176","type":"journal-article","created":{"date-parts":[[2015,1,30]],"date-time":"2015-01-30T08:02:29Z","timestamp":1422604949000},"page":"87-92","source":"Crossref","is-referenced-by-count":3,"title":["Polymorphisms of the NOS<\/scp>3 gene in Tunisian patients with Beh\u00e7et's disease"],"prefix":"10.1111","volume":"42","author":[{"given":"A.","family":"Kallel","sequence":"first","affiliation":[{"name":"Universit\u00e9 de Tunis El Manar Research Laboratory LR99ES11 Department of Biochemistry Rabta University Hospital Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. H.","family":"Sba\u00ef","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Tunis El Manar Research Laboratory LR99ES11 Department of Biochemistry Rabta University Hospital Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. H.","family":"Houman","sequence":"additional","affiliation":[{"name":"Beh\u00e7et's Disease Research Unit 02\/UR\/08\u201015 Department of Internal Medicine Rabta University Hospital Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Sediri","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Tunis El Manar Research Laboratory LR99ES11 Department of Biochemistry Rabta University Hospital Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Ouertani","sequence":"additional","affiliation":[{"name":"Beh\u00e7et's Disease Research Unit 02\/UR\/08\u201015 Department of Internal Medicine Rabta University Hospital Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Smiti Khanfir","sequence":"additional","affiliation":[{"name":"Beh\u00e7et's Disease Research Unit 02\/UR\/08\u201015 Department of Internal Medicine Rabta University Hospital Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Ben Ghorbel","sequence":"additional","affiliation":[{"name":"Beh\u00e7et's Disease Research Unit 02\/UR\/08\u201015 Department of Internal Medicine Rabta University Hospital Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Jemaa","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Tunis El Manar Research Laboratory LR99ES11 Department of Biochemistry Rabta University Hospital Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Kaabachi","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Tunis El Manar Research Laboratory LR99ES11 Department of Biochemistry Rabta University Hospital Tunis 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