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Jefferson Adams posted an article in The Origins of Celiac DiseaseCeliac.com 04/19/2018 - Previous genome and linkage studies indicate the existence of a new disease triggering mechanism that involves amino acid metabolism and nutrient sensing signaling pathways. In an effort to determine if amino acids might play a role in the development of celiac disease, a team of researchers recently set out to investigate if plasma amino acid levels differed among children with celiac disease compared with a control group. The research team included Åsa Torinsson Naluai, Ladan Saadat Vafa, Audur H. Gudjonsdottir, Henrik Arnell, Lars Browaldh, and Daniel Agardh. They are variously affiliated with the Institute of Biomedicine, Department of Microbiology & Immunology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; the Institute of Clinical Sciences, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden; the Department of Pediatric Gastroenterology, Hepatology and Nutrition, Karolinska University Hospital and Division of Pediatrics, CLINTEC, Karolinska Institute, Stockholm, Sweden; the Department of Clinical Science and Education, Karolinska Institute, Sodersjukhuset, Stockholm, Sweden; the Department of Mathematical Sciences, Chalmers University of Technology, Gothenburg, Sweden; the Diabetes & Celiac Disease Unit, Department of Clinical Sciences, Lund University, Malmö, Sweden; and with the Nathan S Kline Institute in the U.S.A. First, the team used liquid chromatography-tandem mass spectrometry (LC/MS) to analyze amino acid levels in fasting plasma samples from 141 children with celiac disease and 129 non-celiac disease controls. They then crafted a general linear model using age and experimental effects as covariates to compare amino acid levels between children with celiac disease and non-celiac control subjects. Compared with the control group, seven out of twenty-three children with celiac disease showed elevated levels of the the following amino acids: tryptophan; taurine; glutamic acid; proline; ornithine; alanine; and methionine. The significance of the individual amino acids do not survive multiple correction, however, multivariate analyses of the amino acid profile showed significantly altered amino acid levels in children with celiac disease overall and after correction for age, sex and experimental effects. This study shows that amino acids can influence inflammation and may play a role in the development of celiac disease. Source: PLoS One. 2018; 13(3): e0193764. doi: & 10.1371/journal.pone.0193764
Jefferson Adams posted an article in Gluten-Free Grains and FloursCeliac.com 05/09/2016 - Exciting gluten-free news from Japan, where researchers say they have successfully sequenced the entire buckwheat genome. This is a big deal, because buckwheat flour offers certain advantages over numerous other gluten-free flours, especially in noodle making. Those familiar with buckwheat know that, despite its name, it contains no wheat or gluten, and is, in fact actually a kind of fruit. The sequencing of the buckwheat gene is exciting because it provides information necessary to develop new kinds of gluten-free noodles and other buckwheat-based foods that may be tastier and chewier than traditional gluten-free products. Yasuo Yasui of Kyoto University and colleagues have sequenced the full buckwheat genome for the first time, identifying genes which could be modified for improved cultivation capabilities and taste appeal. Buckwheat is a central ingredient in soba noodles -- a traditional Japanese favorite -- and is also used to make other noodles from China and Korea. In Italy, buckwheat is used in a dish called pizzoccheri, a type of short tagliatelle, a flat ribbon pasta, made with 80% buckwheat flour and 20% wheat flour. Elsewhere in Europe, buckwheat is used in French gallettes, and Slovenian struklji, While in other regions of the world it appears in pancakes and other foods. In the study, published in DNA Research, the Japanese team found genes related to "mochi-ness", which refers to the soft, chewy texture of foods like marshmallows or fresh bagels. Until now, scientists had not succeed in getting the distinctive 'mochi' texture with buckwheat," says Yasui. "Since we've found the genes that could give buckwheat this texture, I think we can hope to see foods, including soba noodles and doughy European foods, with radical new sensations appearing on the market in the near future,” Yasui adds. Some people are allergic to buckwheat, and Yasui says that the sequencing information may help to make buckwheat safe for those individuals as well. So, stay tuned to learn more about the future of buckwheat in crafting new, chewier noodles, and more. Source: kyoto-u.ac.jp
Jefferson Adams posted an article in Celiac Disease & Gluten Intolerance ResearchCeliac.com 08/25/2010 - The revolution in genetic studies continues to drive discoveries about the genetic triggers for celiac disease. In recent developments, a genome-wide association study (GWAS) has nearly doubled the number of single-nucleotide polymorphisms (SNPs) associated with celiac disease from 14 to 27, most of which contain genes related to immune functions. Doctors have known for some time now that people with genetic markers DQ2 and DQ8 are more susceptible to celiac disease than those without those gene markers. This fact points to the importance of histocompatibility complex presentation of gluten antigens to immune cells. In 2007, a landmark study established 14 celiac-associated SNPs. Recently, a team of researchers conducted a comprehensive follow-up to that study. The study team included P. C. Dubois, G. Trynka, and L. Franke. The resulting GWAS used six times more genetic samples than the 2007 study, including five European case-control data sets comprised of 4,533 celiac disease patients and 10,750 controls. In all, the team tested nearly 300,000 genes. Based on low P values (P < 5 Ã— 10-8) and biological likelihood of candidate SNPs being related to immune function, the team selected a total of 131 single-nucleotide polymorphisms (SNPs) for replication in an independent cohort of 4918 cases and 5684 controls. Their data identify 13 additional regions associated with celiac disease. To determine the trigger gene for each potential locus, the team used three complementary, objective methods. They first used a computerized algorithm, known as GRAIL, that searches PubMed for specific terms related to various gene features. They next employed what is called expression quantitative trait locus mapping, which isolates variations that may influence the expression of the gene, rather than its protein structure and function. Lastly, they looked for co-expression of gene clusters in suspect candidate genes relative to known susceptibility loci. Each of these methods shed additional light on the association between suspect SNPs and celiac disease susceptibility. However, the authors of the study go out of their way to note that, ultimately, the authors categorized loci and predicted causal genes using their "own knowledge of celiac disease pathogenesis.” This fact, they point out, emphasizes the crucial role played by knowledgable scientists exercising their insights to reap the most benefit from ‘objective’ advanced genomic data mining technologies. This study involved genetic assessment in a very large cohort, replication in a similarly large cohort, and multiple independent approaches at refining candidate SNPs. As a result, the number of known loci of celiac disease susceptibility genes has increased from 14 to 27. Their findings also identify several new pathways of celiac disease pathogenesis that merit further investigation. The study team also notes that these findings only account for 20% of the variance in celiac disease heritability. This, they say, points to a need for additional studies regarding genetic triggers for celiac disease. Source: Nature Genetics 42, 295 - 302 (2010). doi:10.1038/ng.543
Columbia Genome Center at Columbia University College of Physicians and Surgeons, New York, NY: The Center is looking for families who have more than one member affected with Celiac Disease, to participate in a genetic research study. Information about the study is included below. All inquiries should be made to the Genetic Coordinator, Michele Pallai, at (203) 438-3582 or email: firstname.lastname@example.org. The Columbia Genome Center is sponsoring a research program at the Columbia University College of Physicians and Surgeons to identify the gene responsible for Celiac Disease. Professor of Genetics and Development, T. Conrad Gilliam, renowned for mapping the genes responsible for Wilson disease and spinal muscular atrophy, is leading the investigation. In addition to his own research staff, Professor Gilliam has access to all of the resources of the Columbia Genome Center for ancillary support of this project. Role of Families with Celiac Disease: The key to this type of study is the participation of families in which there are at least two family members affected with Celiac Disease. Participation of unaffected, as well as affected members may be needed. Those individuals who consent to participate will be asked to provide a sample of blood (20cc) for DNA analysis and give permission for release of their diagnostic records for review by Dr. Peter Green, Clinical Professor of Medicine. Blood collection can be done through a physicians office or a blood drawing laboratory. Participants will be provided with a blood drawing kit. The project will cover the costs of drawing the sample and its shipment. Guidance will be provided by the Genetic Coordinator, Michele Pallai. Who can participate in the study? Anyone representing a family with two family members affected with Celiac Disease can participate. Why should I participate? The involvement of multiple families will best enable the identification of the genetic cause of Celiac Disease. It is anticipated that this identification will lead to earlier diagnosis and effective treatment. What will I have to do? You will need to donate a sample of blood and release your diagnostic records. Any incurred costs will be reimbursed. All interested individuals should contact the Genetic Coordinator, Michele Pallai, at (203) 438-3582 or email: email@example.com.