المؤلفون: Sheereen A; Histocompatibility and Immunogenetics Research Unit, Stem Cell Therapy Program, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Gaafar A, Iqneibi A, Eldali A, Tabbara KF, Adra C, Al-Hussein K

المصدر: Molecular vision [Mol Vis] 2011; Vol. 17, pp. 3523-8. Date of Electronic Publication: 2011 Dec 29.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

مواضيع طبية MeSH: Gene Frequency*, Eye/*metabolism , HLA-C Antigens/*genetics , Receptors, KIR/*genetics , Uveomeningoencephalitic Syndrome/*genetics, Alleles ; Case-Control Studies ; Cohort Studies ; Eye/pathology ; Genetic Predisposition to Disease ; Genotype ; Homozygote ; Humans ; Molecular Typing ; Polymerase Chain Reaction ; Saudi Arabia ; Uveomeningoencephalitic Syndrome/metabolism ; Uveomeningoencephalitic Syndrome/pathology

مستخلص: Purpose: Vogt-Koyanagi-Harada (VKH) disease is a serious ocular inflammatory autoimmune insult directed against antigens associated with melanocytes. The repertoire of killer cell immunoglobulin-like receptors (KIRs) is known to play a significant role in the pathogenesis of various autoimmune disorders. Accordingly, we sought to determine the incidence of KIR genes and KIR ligand (Human leukocytes antigen [HLA-C]) interaction in a cohort of Saudi VKH patients and to compare the findings to normal controls.
Methods: A total of 30 patients with VKH and 125 control subjects were included. PCR using sequence-specific oligonucleotide primers were employed to determine the genotype of the KIR genes and HLA-C alleles.
Results: The frequency of KIR2DS3 was significantly higher in the VKH patients than in the control group (p=0.048). Two unique genotypes; VKHN*1 and VKHN*2 were observed in the VKH patients and not in normal controls. In addition, the majority of the VKH patients (82%) in this study carry Bx genotypes that encode 2-5 activating KIR receptors. The genotype Bx5 was found to be positively associated with the VKH patients (p=0.053). Significantly higher homozygosity of HLA-C2 was observed in the VKH patients than in controls (p=0.005). Furthermore, HLA-C alleles-Cw*14 and Cw*17 were significantly prevalent in the VKH patients (p=0.037 and p=0.0001, respectively), whereas, Cw*15 significantly increased in the control group (p=0.0205). Among potential KIR-HLA interactions, we observed KIR2DL2/2DL3+HLA-C1 to be higher in the control subjects compared with the VKH patients (p=0.018).
Conclusions: Our findings indicated that KIR2DS3 and HLA-class I alleles (-Cw*14 and -Cw*17) may play a role in the pathogenesis of VKH disease. Additionally, the predominance of KIR2DL2/2DL3+HLA-C1 in the controls may imply that this KIR-ligand interaction could possibly play a role in the prevention of VKH disease, or could decrease its severity. These observations may contribute to our understanding of the pathogenesis of VKH and other autoimmune diseases.

المؤلفون: Tabbara KF; The Eye Center and The Eye Foundation for Research in Ophthalmology, Riyadh, Saudi Arabia. k.tabbara@nesma.net.sa, Omar N, Hammouda E, Akanuma M, Ohguchi T, Ariga T, Tagawa Y, Kitaichi N, Ishida S, Aoki K, Ishiko H, Ohno S

المصدر: Molecular vision [Mol Vis] 2010 Oct 24; Vol. 16, pp. 2132-6. Date of Electronic Publication: 2010 Oct 24.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: Electronic Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

مواضيع طبية MeSH: Adenoviridae Infections/*epidemiology , Adenoviridae Infections/*genetics , Conjunctivitis, Viral/*epidemiology , Conjunctivitis, Viral/*genetics , Keratoconjunctivitis/*epidemiology , Keratoconjunctivitis/*virology, Adenoviridae/classification ; Adenoviridae Infections/pathology ; Adolescent ; Adult ; Aging/pathology ; Child ; Child, Preschool ; Chromatography ; Conjunctivitis, Viral/pathology ; Conjunctivitis, Viral/virology ; Female ; Humans ; Keratoconjunctivitis/genetics ; Keratoconjunctivitis/pathology ; Male ; Middle Aged ; Saudi Arabia/epidemiology ; Serotyping ; Sex Characteristics ; Young Adult

مستخلص: Purpose: Adenoviral keratoconjunctivitis is a major cause of ocular morbidity and may lead to visual loss. Adenovirus types 8, 19, and 37 may cause epidemic keratoconjunctivitis. The main objective of this study was to determine the types of adenoviruses causing keratoconjunctivitis in Saudi Arabia.
Methods: We conducted a non-interventional observational clinical study. Seventy three eyes from 65 patients who presented to The Eye Center in Riyadh, Saudi Arabia with clinical features of acute adenoviral keratoconjunctivitis were included. Each patient underwent complete clinical examination and features such as membranous reaction, conjunctival hemorrhage, subepithelial corneal infiltrates, and preauricular lymph node enlargement were recorded. Conjunctival swabs were obtained from patients with presumed acute viral conjunctivitis. Immunochromatography (IC) and restriction fragment length polymorphism polymerase chain reaction (PCR-RFLP) were performed on the conjunctival swabs obtained from each eye. Serotype identification was performed using direct sequencing technique.
Results: Forty-nine (67.1%) were adenovirus type 8, 8 (11.0%) were adenovirus type 3, 6 (8.2%) type 37, 5 (6.8%) were adenovirus type 4, and 2 (2.3%) type 19. The remaining 5 were types 14, 19, and 22. The prevalence of membranous conjunctivitis was highest (83%) among eyes with adenovirus type 37 while subepithelial corneal opacities were most commonly seen among eyes with adenovirus type 8 (47%). Immunochromatography tests were positive for adenovirus in 48 (65.7%) out of 73 eyes.
Conclusions: This study determined the types of adenoviruses causing keratoconjunctivitis at one center in Saudi Arabia. Direct sequencing techniques is an efficient, accurate, and rapid means of diagnosing adenoviral keratoconjunctivitis. The most common causes of adenoviral keratoconjunctivitis in Saudi Arabia were adenovirus types 8, 3, and 37. Membranous conjunctivitis and subepithelial opacities had the highest frequency of adenovirus types 37 and 8, respectively. Lymph nodes enlargement was least likely in adenovirus type 4.

المؤلفون: Iqniebi A; Histocompatibility & Immunogenetics Research Unit, Stem Cell Therapy Program, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Gaafar A, Sheereen A, Al-Suliman A, Mohamed G, Al-Hussein K, Tabbara KF

المصدر: Molecular vision [Mol Vis] 2009 Sep 12; Vol. 15, pp. 1876-80. Date of Electronic Publication: 2009 Sep 12.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: Electronic Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

مواضيع طبية MeSH: HLA-DR Antigens/*genetics , Uveomeningoencephalitic Syndrome/*genetics, Case-Control Studies ; Female ; Gene Frequency ; HLA-DRB1 Chains ; Humans ; Male ; Saudi Arabia

مستخلص: Purpose: Vogt-Koyanagi-Harada (VKH) disease is an immune-mediated disorder with autoimmune insult directed against antigens associated with melanocytes. The genetic predisposition among VKH has not been explored in Saudi Arabia. So, the purpose of this study was to investigate the association of human leukocyte antigen (HLA)-DRB1 alleles to VKH patients and to clarify the molecular genetic mechanism underlying the susceptibility or resistance to VKH disease.
Methods: Genomic DNA from a total of 30 patients with VKH and 29 control subjects was extracted from peripheral blood, and HLA-DRB1 alleles were typed by polymerase chain reaction and sequence based typing (SBT).
Results: We found a statistically significant difference in the prevalence of HLA-DRB1 *0405 between the VKH patients and control subjects (p<0.05). Eleven out of thirty (36.6%) patients with VKH had positive HLA-DRB1 *0405 compared to two out of twenty-nine (6.9%) control subjects. However, there were no statistically significant differences in the HLA-DRB1 alleles *01, *0101, *0102, *0301, *04, *0403, *0404, *0701, *1001, *1101, *1112, *1301, *1302, *1303, *1501, and *1502 between the VKH patients and controls.
Conclusions: Patients with VKH had significantly greater incidence of HLA-DRB1 *0405 when compared to age and sex-matched controls. Consequently, this finding suggests that HLA-DRB1 *0405 allele might play a role in the pathogenesis of VKH disease.