Presence of DQ2.2 Associated with DQ2.5 Increases the Risk for Celiac Disease

Almeida, Lucas Malta; Gandolfi, Lenora; Pratesi, Riccardo; Uenishi, Rosa Harumi; Almeida, Fernanda Coutinho de; Selleski, Nicole; Nóbrega, Yanna Karla de Medeiros

doi:10.1155/2016/5409653

Cited by 27 publications

(31 citation statements)

References 29 publications

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“…13‐17 However, the highest risk for CD in these studies was associated with homozygous HLA‐DQ2.5 and DQ2.5/DQ2.2 , while DQ2.5/DQ8 was associated with an intermediate risk. Previous studies reported an intermediate/high risk of develop CD in individuals carrying DQ8 ; however, in our study, individuals carrying DQ8 had a risk similar to that of the general population (1:70; OR: 0.700). Values that were lower than the CD prevalence in the general Saudi population were demonstrated for the DQ2.2 genotype (1:241), which was associated with an intermediate or high risk in other populations .…”

Section: Discussioncontrasting

confidence: 84%

“…The HLA‐DQ2.2 genotype has infrequently been reported in previous studies, which might be explained by the true rarity of this genotype in some populations, such as Finnish patients with CD, or incomplete HLA typing. In recent studies a similar prevalence of HLA‐DQ2.2 (but not HLA‐DQ2.5 or HLA‐DQ8 ) (3.6%‐5.8%) in patients with CD has been reported in different ethnicities which suggests that incomplete HLA typing may be the most likely cause for the missing HLA‐DQ2.2 haplotype in previous studies. A minority of celiac patients (<1%) carry a single allele of the HLA‐DQ2.5 heterodimer: HLA‐DQA1*05 or HLA‐DQB1*02 , known as half‐heterodimers .…”

Section: Discussionmentioning

confidence: 99%

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HLA‐DQ genotypes relative risks for celiac disease in Arabs: A case‐control study

Al–Hussaini

Eltayeb‐Elsheikh

Alharthi

et al. 2019

J of Digest Diseases

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Objectives It remains unknown what degree of risk is conferred by celiac disease (CD)‐predisposing human leukocyte antigen (HLA)‐DQ genotypes in Saudi Arabia compared with in Western countries. In this study, we aimed to determine the CD risk gradient associated with the HLA‐DQ genotypes and to compare HLA‐DQ genotypes between symptomatic patients with CD and screening‐identified asymptomatic CD patients. Methods We enrolled three groups of subjects, including 46 CD children diagnosed consecutively over the past 10 years, 54 CD children diagnosed during a mass screening of schoolchildren, and 192 healthy controls. All the participants were typed for the HLA‐DQA1 and HLA‐DQB1 genes by polymerase chain reaction sequence‐specific oligonucleotide probes. Results Comparing the patients with CD to controls, we identified 5 groups in the CD risk gradient: (i) very high risk associated with the DQ2.5/DQ8 genotype (odds ratio [OR] 46.93); (ii) high risk (homozygous DQ2.5, DQ2.5/DQ2.2; OR 4.12‐5.04); (iii) intermediate risk (heterozygous DQ2.5, DQ8/DQ2.2; OR 1.61 and 1.67); (iv) low risk (DQ8, DQ2.2); and (v) very low risk (DQ2.x, DQX.5, DQX.x). Heterozygous DQ8 was more common in screening‐identified group compared to symptomatic patients (13.0% vs 2.2%); however, other genotypes were very similar between the two groups. Conclusion The highest risk of developing CD in our Saudi Arabia population is associated with the DQ2.5/DQ8 genotype.

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Section: Discussioncontrasting

confidence: 84%

Section: Discussionmentioning

confidence: 99%

HLA‐DQ genotypes relative risks for celiac disease in Arabs: A case‐control study

Al–Hussaini

Eltayeb‐Elsheikh

Alharthi

et al. 2019

J of Digest Diseases

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“…Even though this kind of molecule does not bind as efficient as DQ2.5 to gluten peptides, it does strong enough to build up a T‐cell antigluten response, leading to the development of CD (Bodd, Kim, Lundin, & Sollid, ). A previous study performed by our group confirmed the relevance of this genetic variant in the Brazilian population (Almeida et al., ).…”

Section: Discussionsupporting

confidence: 80%

“…According to recent studies the most prevalent haplotype found in patients lacking HLA-DQ2.5 and HLA-DQ8 is HLA-DQ2.2 (Mubarak et al, 2013). However, previous studies performed in a smaller Brazilian population sample suggest that HLA-DQ2.2 can only be considered a risk factor when associated with DQ2.5 (Almeida et al, 2016;Selleski et al, 2018).These variants are responsible for only 40% of the genetic risk of CD and are carried by approximately 30% of the general Caucasian population (Megiorni & Pizzuti, 2012), thus suggesting that HLA is only one of the regions that could confer risk of developing this condition. However, the other 60% of the genetic susceptibility to CD is shared by HLA class I and non-HLA genes, each of which is estimated to contribute only with a small risk effect (Trynka et al, 2011;Withoff, Li, Jonkers, & Wijmenga, 2016).…”

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confidence: 99%

Frequency of HLA‐DQ, susceptibility genotypes for celiac disease, in Brazilian newborns

Almeida

Gandolfi

Costa

et al. 2018

Molec Gen & Gen Med

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BackgroundThe frequency of HLA‐DQ2 and DQ8 predisposing genotypes for celiac disease (CD) has shown significant variation among different world regions and has not been previously determined among the highly interbred Brazilian population. The aim of this study was to investigate the frequency of these genotypes among Brazilian newborns (NB).MethodsWe typed DQA1*05 ‐ DQB1*02 (DQ2.5) and DQA1*03 ‐ DQB1*03:02 (DQ8) alleles in 329 NB using qPCR technique. Subsequently we confirmed our results by PCR‐SSP using a reference kit which further identified DQ2.2 (DQA1*02:01 ‐ DQB1*02).ResultsAmong the 329 NB, using qPCR technique: 5 (1.52%) carried both DQ2.5 and DQ8 variants; 58 (17.63%) carried only DQ2.5 (DQA1*05 and DQB1*02) and 47 (14.29%) carried only the DQ8 (DQA1*03 and DQB1*03:02) variant. The use of the PCR‐SSP method yielded further information; among the 329 samples: 34 (10.34%) tested positive for DQ2.2 and among the 47 previously DQ8 positives samples, we found 10 (3.04%) that also tested positives for DQ2.2.Conclusion43.7% of the analyzed individual tested positive for at least one of the CD predisposing HLA‐DQ genotypes in our group of Brazilian NB. The highest frequency was found for DQ2.5 positive subjects (17.6%) followed by DQ8 (11.3%); DQ2.2 (10.3%); DQ8 and DQ2.2 (3.0%); DQ2.5 and DQ8 (1.5%). We found no positive sample for DQ2.5 associated with DQ2.2.

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“…Approximately 93% of CD patients will carry HLA-DQ2 or HLA-DQ8. 22,23 It depends on the study. Some say 95%.…”

mentioning

confidence: 99%

Food Sensitivities, Inflammation, and Autoimmune Disease: A Clinical Conversation with Tom O’Bryan, DC, CCN, DACBN, and Robert Rountree, MD

O'Bryan

Rountree²

2020

Alternative and Complementary Therapies

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Robert Rountree: I would like to start by hearing about how you got to where you are today. What was the trajectory of your educational and professional experience? You graduated from chiropractic school in 1981. That means it has been 38 years since you got that license. You have really come a long way since then! Tom O'Bryan: I went to the University of Michigan for undergrad. I think I was 19 at the time and I first read Prevention magazine, when it was a true health magazine, before it was sold to a pharmaceutical company and began advertising the benefits of drugs for different conditions. Jonathan Wright wrote case studies every month. I would read these case studies, and he had this very down-home, earthy kind of way of explaining medical conditions to patients in language they would understand and made sense to them. I did not realize until this interview that he was my first mentor on how to effectively communicate to patients. He would talk to this guy that had a condition, what were the symptoms and all that, and he recommended nutrition and diet and the guy would come back a few months later and he was much better. The references at the back of the article gave credibility to what he was talking about and it caught my interest. I said, "My gosh, there is really something to this holistic approach, that has science to validate it." I thought that was very interesting. The world that I was really in at the time, besides my studies, was the world of aikido. I had been lucky enough that the number-two guy in the world had come to Detroit to give a demonstration. He ultimately stayed and would have three to five classes per day, and a very special once a week by invitation only class called Kenshu, for a select group of the students. This man carried the direct unfiltered lineage of > 350 years of samurai in his family. These special weekly classes were on different concepts, one per week, of the samurai code of honor called Bushido. Dr. Rountree: So those were your formative yearsduring college, when you were studying aikido? Long before you went to chiropractic school? I would imagine that introduced you to a philosophy of how to approach health care. Dr. O'Bryan: That is exactly right. From there, I then went to Japan, and I lived in the world headquarters. I was a deshi. It was such an honor. On the surface it meant that I got to clean the toilets in the school, and whatever other menial tasks were assigned to me. I spent six months there and I was privileged to visit a number of the grand masters of different disciplines, jodo and kyodo and karate. I met some very famous grand masters. Dr. Rountree: Do you still do an aikido practice today? Dr. O'Bryan: Every day as a way of life. The whole premise of aikido is that you never fight force with force, it is that you deflect and allow the force to go in the direction it wants to go. That is what really attracted me. My girlfriend at the time, who became my wife later, was in a bad car accident when she was very young, and annually or so, she would have t...

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Presence of DQ2.2 Associated with DQ2.5 Increases the Risk for Celiac Disease

Cited by 27 publications

References 29 publications

HLA‐DQ genotypes relative risks for celiac disease in Arabs: A case‐control study

HLA‐DQ genotypes relative risks for celiac disease in Arabs: A case‐control study

Frequency of HLA‐DQ, susceptibility genotypes for celiac disease, in Brazilian newborns

Food Sensitivities, Inflammation, and Autoimmune Disease: A Clinical Conversation with Tom O’Bryan, DC, CCN, DACBN, and Robert Rountree, MD

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