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Celiac.com 05/16/2025 - For people with celiac disease, avoiding gluten is just one piece of the puzzle. Research shows that celiac disease often coexists with other autoimmune disorders, such as Hashimoto’s thyroiditis, Type 1 diabetes, and rheumatoid arthritis. This overlap raises important questions: Why do these conditions cluster together? What does this mean for diagnosis and management? And most importantly, how can individuals with celiac disease reduce their risk of developing additional autoimmune conditions? This article explores the science behind these connections, the shared mechanisms that trigger multiple autoimmune diseases, and practical steps for safeguarding long-term health. 1. The Autoimmune Link: Why Celiac Disease Often Comes with Company Autoimmune diseases occur when the immune system mistakenly attacks the body’s own tissues. Celiac disease—an immune reaction to gluten that damages the small intestine—is just one of over 100 recognized autoimmune disorders. Studies suggest that up to 30% of people with celiac disease develop at least one other autoimmune condition, compared to just 3-5% of the general population. Common Autoimmune Conditions Linked to Celiac Disease Hashimoto’s thyroiditis (underactive thyroid) Type 1 diabetes (pancreatic beta-cell destruction) Rheumatoid arthritis (joint inflammation) Sjögren’s syndrome (dry eyes/mouth) Lupus (systemic inflammation) Why does this happen? Shared genetic risk (e.g., HLA-DQ2/DQ8 variants) Leaky gut and molecular mimicry (gluten triggers immune cross-reactivity) Chronic inflammation perpetuating further autoimmunity 2. The Role of Genetics: Why Some Bodies Attack Themselves Genetics play a major role in autoimmune clustering. The HLA-DQ2 and HLA-DQ8 genes are present in nearly all celiac patients and are also linked to: Type 1 diabetes (50% genetic overlap with celiac disease) Hashimoto’s (higher prevalence in those with HLA-DQ2) However, genes alone aren’t enough—environmental triggers (like gluten, infections, or stress) "turn on" these conditions in susceptible individuals. 3. The Gut-Immune System Connection Celiac disease damages the intestinal lining, leading to "leaky gut"—where undigested food particles and bacteria escape into the bloodstream. This can: Trigger immune responses against other tissues (e.g., thyroid, joints). Worsen inflammation, creating a cycle that promotes additional autoimmune diseases. Key Fact: Early diagnosis and strict gluten-free diets may reduce the risk of developing other autoimmune conditions. 4. Common Autoimmune Partners of Celiac Disease A. Hashimoto’s Thyroiditis Prevalence: Up to 15% of celiac patients develop Hashimoto’s. Symptoms: Fatigue, weight gain, depression. Action Step: Request thyroid antibody tests (TPO, TgAb) if symptoms arise. B. Type 1 Diabetes Prevalence: 6-10% of Type 1 diabetics also have celiac disease. Symptoms: Unexplained blood sugar swings, nutrient deficiencies. Action Step: Screen for celiac disease at Type 1 diagnosis (and vice versa). C. Rheumatoid Arthritis (RA) Prevalence: 2-5x higher RA risk in celiac patients. Symptoms: Joint pain, morning stiffness. Action Step: Anti-inflammatory diets (e.g., gluten-free + omega-3s) may help both conditions. 5. Reducing the Risk: Can You Prevent a Second Autoimmune Disease? While genetics can’t be changed, these strategies may lower risks: Strict Gluten-Free Diet Reduces intestinal damage and systemic inflammation. Gut Healing Supplements Probiotics, L-glutamine, and vitamin D support immune balance. Regular Screening Annual thyroid, blood sugar, and nutrient level checks. Stress & Lifestyle Management Chronic stress worsens autoimmunity; mindfulness and sleep are key. 6. Conclusion: Empowerment Through Awareness For those with celiac disease, the connection to other autoimmune conditions can feel overwhelming—but knowledge is power. By understanding shared risks, staying vigilant with screenings, and adopting a proactive health approach, it’s possible to manage or even mitigate additional autoimmune diagnoses. Key Takeaways: Autoimmune clustering is common—celiac rarely travels alone. Genetics + environment = trigger—but diet and lifestyle matter. Early action helps—strict gluten-free eating may protect against further autoimmunity. If you have celiac disease, work closely with a healthcare provider to monitor for other conditions. With the right care, living well with autoimmunity is absolutely possible. Watch the video version of this article:

Celiac.com 02/03/2024 - Celiac disease is a complex condition influenced by a combination of genetic and environmental factors. Genetic testing, along with other diagnostic tools, helps in assessing the risk of celiac disease. Consultation with a healthcare professional is crucial for accurate diagnosis and management. Understanding celiac disease requires unraveling the complex genetic puzzle that underlies this autoimmune condition. Within the human genome, certain genes stand out as key players, influencing susceptibility and shaping the landscape of celiac disease. There are both common and uncommon genes that are related to celiac disease and gluten sensitivity, and here we will explore both. Common Genes Associated with Celiac Disease The number of genes associated with celiac disease is more than two, but there are two main genes that are commonly tested for celiac disease susceptibility. These genes are HLA-DQ2 and HLA-DQ8. HLA-DQ2: The majority of individuals with celiac disease (about 90-95%) carry the HLA-DQ2 gene. HLA-DQ8: Around 5-10% of individuals with celiac disease have the HLA-DQ8 gene. It's important to note that the presence of these genes doesn't guarantee the development of celiac disease. Additionally, the absence of HLA-DQ2 and HLA-DQ8 doesn't rule out the possibility of celiac disease, as there are cases of individuals with celiac disease who lack these genes, and there are less common genes that have been found to be related to the disease. Uncommon Genes Associated with Celiac Disease While HLA-DQ2 and HLA-DQ8 are the primary genes associated with celiac disease, other genetic factors may contribute to its development. Within the realm of celiac disease, the genetic narrative extends beyond the well-known HLA-DQ2 and HLA-DQ8 genes to the uncommon genes that contribute to the disease. While not as prevalent as their more recognized counterparts, several uncommon genes have also been found to be a factor in triggering celiac disease in some individuals. Non-HLA Genes Identified as Potential Risk Factors for Celiac Disease HLA-DQ2.5 Subtypes: Within the HLA-DQ2 category, specific subtypes such as HLA-DQ2.2 have been linked to celiac disease risk. HLA-DQ7: Although less common than HLA-DQ2 and HLA-DQ8, HLA-DQ7 has been identified as a potential risk factor. HLA-DQ4: While individuals with HLA-DQ4 are at lower risk compared to those with HLA-DQ2 or HLA-DQ8, this gene may still play a role in susceptibility. Other Non-HLA Genes: Genome-wide association studies (GWAS) have identified several non-HLA genes associated with celiac disease, including IL2 and IL21. Genes Related to Non-Celiac Gluten Sensitivity Intriguingly, the genetic landscape we traverse in celiac disease extends its influence beyond the boundaries of this autoimmune condition. Emerging research suggests a potential link between certain celiac-associated genes and non-celiac gluten sensitivity (NCGS). While NCGS lacks the autoimmune component seen in celiac disease, the overlap in genetic markers hints at shared mechanisms. Individuals with NCGS may also carry genetic variations that contribute to their sensitivity to gluten. Unraveling these connections broadens our understanding of gluten-related disorders and opens avenues for investigating the spectrum of gluten-related conditions. The intricate interplay of genetics in both celiac disease and non-celiac gluten sensitivity invites further exploration into the nuances of gluten-induced immune responses, paving the way for more comprehensive insights into gluten-related health issues. Summary In summary, while HLA-DQ2 and HLA-DQ8 are significant markers for celiac disease susceptibility, having these genes is not a definitive diagnosis, and not having them doesn't rule out the possibility of celiac disease. Other genetic and environmental factors contribute to the development of celiac disease. A diagnosis typically involves a combination of genetic testing, serological tests, and, in some cases, a biopsy of the small intestine. As we decipher the genetic blueprint, it becomes evident that celiac disease is not a one-size-fits-all scenario. The interplay of diverse genetic factors illuminates the variability in how the disease manifests and underscores the importance of individualized approaches to diagnosis and management. Additional Resources: NIH - Gene Reviews Celiac disease: From genetics to epigenetics Celiac Disease Genetics: Current Concepts and Practical Applications Journal of Medical Genetics - Genetics of Celiac Disease The genetics of celiac disease: A comprehensive review of clinical implications

Celiac.com 07/31/2023 - In a recent study, researchers investigated rates of HLA-DQ2 and HLA-DQ8 in women diagnosed with lipedema, a condition characterized by abnormal fat accumulation. The research team included Alexandre C. Amato, Lorena L. Amato, Daniel Benitti, and Juliana L. Amato. They are variously affiliated with the department of Vascular Surgery, Instituto de Medicina Avançada, Sao Paulo, BRA; the department of Endocrinology, Instituto de Medicina Avançada, São Paulo, BRA; the Department of Vascular and Endovascular Surgery, Medical Valens Center, São Paulo, BRA; and the Gynecology department, Instituto de Medicina Avançada, São Paulo, BRA. Women Diagnosed with Lipedema & HLA-DQ2 and HLA-DQ8 Rates For their study, they analyzed the leukocyte histocompatibility antigen (HLA) tests of 95 women diagnosed with lipedema, using non-probabilistic sampling for convenience. They then compared rates of HLA-DQ2 and HLA-DQ8 to the general population. Study Results: Significantly Higher Rates of HLA-DQ2, HLA-DQ8 in Lipedema Patients The results showed that nearly 50% of lipedema patients had HLA-DQ2, while more than one-in-five had HLA-DQ8. Additionally, 61.1% of patients had either HLA-DQ2 or HLA-DQ8 associated with celiac disease, and 7.4% had both HLAs. In contrast, nearly 40% of patients had no HLA associated with celiac disease. Comparing the lipedema patients to the general population, the study found significantly higher rates of HLA-DQ2, HLA-DQ8, and any HLA-associated celiac disease. Moreover, patients with HLA-DQ2+ had lower average weight than the overall study population, and their BMI significantly differed from the overall mean BMI. The findings suggest that lipedema patients seeking medical help are more likely to have HLA-DQ2 and HLA-DQ8. Given the role of gluten in inflammation, this information could be an important step in exploring alternative approaches for managing lipedema, and improving the quality of life for those affected by this condition. The researchers recommend further investigation to understand if eliminating gluten from the diet could potentially improve the management of lipedema symptoms. Read more at cureus.com.

Celiac.com 02/17/2020 - Celiac disease is a common inflammatory autoimmune disorder triggered when dietary gluten causes intestinal damage in genetically susceptible people who have either of two genes, the HLA-DQ8 or HLA-DQ2 haplotypes. More and more, doctors see a need to come up with non-dietary treatments, but there is currently no good gluten- and HLA-dependent model. Human data has led to a great deal of information about the origins of celiac disease, but no one has yet revealed the roles of disease-predisposing HLA molecules, and of adaptive and innate immunity in celiac-related tissue damage. A large team of top researchers recently set out to determine if interleukin-15 gluten and HLA-DQ8 drive tissue destruction in celiac disease. The research team included Valérie Abadie, Sangman M. Kim, Thomas Lejeune, Brad A. Palanski, Jordan D. Ernest, Olivier Tastet, Jordan Voisine, Valentina Discepolo, Eric V. Marietta, Mohamed B. F. Hawash, Cezary Ciszewski, Romain Bouziat, Kaushik Panigrahi, Irina Horwath, Matthew A. Zurenski, Ian Lawrence, Anne Dumaine, Vania Yotova, Jean-Christophe Grenier, Joseph A. Murray, Chaitan Khosla, Luis B. Barreiro and Bana Jabri. The team used a mouse model to mimic the over-expression of interleukin-15 (IL-15) in the gut epithelium and lamina propria that marks active celiac disease, carries HLA-DQ8, and shows villous atrophy after gluten exposure. For villous atrophy to occur, IL-15 must be over-expressed in both the epithelium and the lamina propria, which shows the crucial role of IL-15 in the development of celiac disease. Moreover, CD4+ T cells and HLA-DQ8 play a central part in permitting cytotoxic T cells to mediate intestinal epithelial cell lysis. The team's results also demonstrate a role for the cytokine interferon-γ (IFNγ) and the enzyme transglutaminase 2 (TG2) in tissue destruction. By revealing the intricate interplay between gluten, genetics and IL-15-driven tissue inflammation, this mouse model casts light on the mechanisms behind celiac disease, and may help to drive the development of new treatments. Read more at Nature.com The researchers are variously affiliated with the Department of Medicine, University of Chicago, Chicago, IL, USA, Department of Medicine, Section of Genetic Medicine, University of Chicago, Chicago, IL, USA; Committee on Immunology, University of Chicago, Chicago, IL, USA; the Department of Biology, University of San Francisco, San Francisco, CA, USA; the Department of Chemistry, Stanford University, Stanford, CA, USA; the Department of Chemical Engineering, Stanford University, Stanford, CA, USA; the Stanford ChEM-H, Stanford University, Stanford, CA, USA; the Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, USA; the Department of Immunology, Mayo Clinic, Rochester, MN, USA; the Department of Dermatology, Mayo Clinic, Rochester, MN, USA; the Department of Microbiology, Infectiology, and Immunology, Faculty of Medicine, University of Montreal, Montreal, Quebec, Canada; the Department of Genetics, Sainte-Justine Hospital Research Centre, University of Montreal, Montreal, Quebec, Canada; Department of Pediatrics, Faculty of Medicine, University of Montreal, Montreal, Quebec, Canada; the Sainte-Justine Hospital Research Centre, University of Montreal, Montreal, Quebec, Canada.

Celiac.com 03/14/2012 - A group of researchers recently studied the ways in which HLA-DQ2 and DQ8 might influence the severity of celiac disease. Specifically, the team wanted to study HLA-DQA1 and DQB1 profiles in adults with different forms of celiac disease, including adults with complicated and potential celiac disease, the most seriously affected, and those with the best preserved histologic end of the pathologic celiac spectrum. The researchers included F. Biagi, P.I. Bianchi, C. Vattiato, A. Marchese, L. Trotta, C. Badulli, A. De Silvestri, M. Martinetti, and G.R. Corazza. They are affiliated with the Coeliac Centre/First Department of Internal Medicine, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Italy. Patients with complicated celiac disease showed more HLA-DQB1*02 homozygosity than those with uncomplicated celiac disease. The team conducted HLA-DQA1 and DQB1 molecular typing for 218 adults with celiac disease. Of these, 169 had uncomplicated celiac disease, 27 had complicated celiac disease, and 22 had potential celiac disease. They used 224 healthy stem cell donors as a control group. The team analyzed HLA-DQA1 and DQB1 gene polymorphism using polymerase chain reaction sequence-specific primers and/or reverse polymerase chain reaction sequence-specific oligonucleotides. They found, as expected, that the frequency of HLA-DQB1*02 allele, DQB1*02 homozygosity, and DQB1*0302 gene were statistically different in the four groups. However, multivariate analysis showed that patients with potential celiac disease have a higher frequency of both HLA-DQB1*0302 and HLA-DQB1*0603 alleles, along with a reduced frequency of DQB1*02 homozygosity, as compared with patients with uncomplicated and complicated celiac disease. The increased frequency of DQB1*0302 coupled with the reduced frequency of DQB1*02 homozygosity in potential celiac disease supports the idea that variations in clinical/pathologic expressions of celiac disease might reflect different immune system triggers. This observation could impact the way in which celiac disease is understood and studied in the future. Source: J Clin Gastroenterol. 2012 Jan;46(1):46-50.

Celiac.com 10/20/2011 - Very little study information exists concerning rates of celiac disease-predisposing, HLA-related genes in Arab populations. A research team recently investigated the distribution of HLA-DQ2 and -DQ8 genotypes in Libyan children with celiac disease, and in healthy control subjects. The study team included Kamla Alaridaa, Jumma Harownb, Maria Rosaria Di Pierroc, Sandro Dragoc, and Carlo Catassid. They are affiliated variously with the Department of Pediatrics, “Omar Al Mukhtar” University, and the El Thoura Hospital in Al Bayda, Libya, the Biodiagene S.r.L., Palermo, Italy, the Department of Pediatrics of the Università Politecnica delle Marche in Ancona, Italy, and the Center For Celiac Research at the University of Maryland School of Medicine in Baltimore, Maryland. The team tested 31 Libyan children with celiac disease (22 females and 9 males, median age 9.2 years) and 156 Libyan control subjects (81 females and 75 males, median age 10.9). To determine HLA genes, the team used DQ-celiac disease Typing Plus kit by DiaGene of Palermo, Italy, on a drop of dried blood. Test results showed that the HLA-DQ pattern for the 3 children with celiac disease was: hetero DQ2 (n = 15), DQ2 with homo β2 (10), DQ8 and β2 positive (3), DQ8 (2), and hetero β2 (1). Meanwhile, the HLA-DQ pattern of the 156 controls was: hetero DQ2 (n = 36), hetero β2 (30), DQ2–DQ8 negative (23), DQ8 (19), α5 (14), DQ2 with homo β (12), homo β2 (10), DQ8 and β2 positive (7), and DQ2/DQ8 (5). The study team found that HLA-DQ2 and -DQ8 in was as common in Libyan children with celiac disease as in Italian children with the disease. However, there were more “high-risk” genotypes in Libyan children with the disease compared to their Italian counterparts. Lastly, the prevalence of HLA-DQ2 and -DQ8 genes was higher among the Libyan general population that among the Italian population, which suggests a strong genetic predisposition to celiac disease among the Libyan population. Source: Digestive and Liver Disease 42 (2010) 425–427