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Celiac.com 10/18/2018 - A team of researchers recently set out to investigate the prevalence of human leukocyte antigens (HLA) DQ2 and DQ8 haplotypes, two common polymorphisms associate with celiac disease, in women who have had previous stillbirth, but who do not have celiac disease. The research team included Mauro Cozzolino, Caterina Serena, Antonino Salvatore Calabró, Elena Savi Marianna, Pina Rambaldi, Serena Simeone, and Serena Ottanelli, Giorgio Mello, Giovanni Rombolá, Gianmarco Troiano, Nicola Nante, Silvia Vannuccini, Federico Mecacci, and Felice Petraglia. They are variously affiliated with the Division of Obstetrics and Gynecology, and the Department of Experimental and Clinical Biomedical Sciences, Gastroenterology Unit, at Careggi University Hospital, University of Florence in Florence, Italy. For their study, the team enrolled 56 women with history of unexplained term stillbirth referred to our Center for High‐Risk Pregnancies for a preconception counseling. As a control group, they enrolled 379 women with previous uncomplicated pregnancies. They excluded women with celiac women from the study. The team then conducted genetic tests for HLA DQ2/DQ8 on both groups, and compared patients data against controls. They found that 50% of women with history of unexplained term stillbirth tested positive for HLA‐DQ2 or DQ8, compared with just 29.5% for controls. Women with HLA DQ8 genotype showed a substantially higher risk of stillbirth (OR: 2.84 CI: 1.1840‐6.817). For patients with the DQ2 genotype, the OR for stillbirth was even higher, at 4.46 with a CI of 2.408‐8.270. In the stillbirth group, the team found that SGA neonates in 85.7% those with HLA‐DQ2/DQ8 haplotypes, and in just 42.8% with negative genetic testing. The team found significantly higher rates of HLA DQ2/DQ8 haplotypes in women with history of unexplained term stillbirth than in women with previous uneventful pregnancies. Moreover, they found that HLA DQ2/DQ8 positivity was significantly associated with suboptimal fetal growth in intrauterine fetal death cases, as shown by an increased prevalence of SGA babies. This study will definitely be of interest to women with HLA DQ2/DQ8 haplotypes, and to those who have experienced unexplained stillbirths. Stay tuned for more information on this important topic as news becomes available. Read more at: American Journal of Reproductive Immunology
Celiac.com 08/10/2015 - The presence of specific human leukocyte antigen-DQ2 and DQ8 seems to be necessary for celiac disease development, but its usefulness for screening is still uncertain. A research team recently set out to conduct a systematic review and meta-analysis of the diagnostic performance of human leukocyte antigen typing tests for celiac disease screening. The research team included A. Díaz-Redondo, J. Miranda-Bautista, J. García-Lledó, J.P. Gisbert, and L. Menchén. They are variously affiliated with the Hospital General Universitario Gregorio Marañón in Madrid, Spain, and with the Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Madrid, Spain. The team conducted a systematic review of published studies assessing accuracy of human leukocyte antigen DQ2 and DQ8 typing for the detection of celiac disease. They searched MEDLINE and EMBASE for the period running from 1st January 2004 until 31st December 2013 and used two independent researchers to carry out selection and classification of studies, data extraction and analysis. The team conducted meta-analysis that combined sensitivities, specificities and likelihood ratios of HLA-DQ2 and DQ8 for the diagnosis of celiac disease and ended up with six studies that included a total of 1303 people. The results showed pooled sensitivity at 98%, with 95% confidence interval: 97-99. Overall specificity was 45% (95% confidence interval: 41-48). Regarding specificity, studies were heterogeneous and a the team ran a subgroup analysis according to the type of population included. Overall negative likelihood ratio was 0.05 (0.03-0.09). Because it offers high sensitivity and low negative likelihood ratio, the team concludes that human leukocyte antigen-DQ2/DQ8 typing makes an appropriate test for ruling out celiac disease in the general population suffering related symptoms, and even more in at risk population. Source: Rev Esp Enferm Dig. 2015 Jul;107(7):423-429.
Celiac.com 06/17/2013 - To investigate the prevalence of human leukocyte antigen (HLA) DQ2/8 alleles in Southern Italians with liver and gastrointestinal (GI) diseases outside of celiac disease, a team of researchers recently looked at human leukocyte antigen DQ2/8 prevalence in non-celiac patients with gastrointestinal diseases. The research team included Daniel DiGiacomo, Antonella Santonicola, Fabiana Zingone, Edoardo Troncone, Maria Cristina Caria, Patrizia Borgheresi, Gianpaolo Parrilli, and Carolina Ciacci. They are variously affiliated with the Gastrointestinal Unit of University Federico â…¡ in Naples, Italy, the Department of Medicine, Celiac Disease Center of Columbia University in New York, in the United States, The Celiac Center of Loreto Crispi Hospital in Naples, Italy, the Celiac Center, Gastrointestinal Unit in San Giovanni di Dio e Ruggi d’Aragona Hospital at the University of Salerno, and the Department of Medicine and Surgery, Campus di Baronissi at the University of Salerno Medical School in Baronissi, Italy. The team assessed HLA DQ2/8 status in 443 patients from three ambulatory gastroenterology clinics in Southern Italy. The clinics were located at the University of Federico â…¡ and Loreto Crispi Hospital in Naples, and Ruggi D’Aragona Hospital in Salerno. The team grouped patients according disease status for pre-post transplant liver disease, esophageal/gastric organic and functional diseases, irritable bowel syndrome (IBS) and inflammatory bowel disease (IBD), along with DQ2/8 alleles, which correspond to a celiac disease genetic risk scale. They then compared allele frequencies in the test subjects with healthy Italian control subjects. Out of 443 subjects, the team found that 196 subjects (44.2%), tested positive for DQ2/8. The average age of DQ2/8 positive subjects was 56 years, and 42.6% were female. Overall, the team found that 86/188 (45.7%) patients with liver disease were HLA DQ2/8 positive, 39/73 (53.4%) with functional upper GI diseases and 19/41 (46.3%) with organic upper GI diseases were positive. Moreover, 38/105 (36.2%) patients with IBS and 14/36 (38.9%) with IBD were HLA DQ2/8 positive (P = 0.21). Additionally, people with functional upper GI diseases disorders had rates of DQ2/8 positivity that were nearly double those of healthy control subjects. Those with liver disease had rates of DQ2/8 positivity that were 1.3 percent higher than controls, though this rate is not statistically significant. People with IBS and IBD had a lower rates of DQ2/8 positivity compared to healthy controls. Compared to general population estimates, the percentage of individuals who were HLA DQ2/8 positive is higher in those with liver/upper functional GI disease and lower in IBS/IBD. Source: World J Gastroenterol 2013 April 28; 19(16): 2507-2513. ISSN 1007-9327 (print) ISSN 2219-2840 (online). doi:10.3748/wjg.v19.i16.2507