HLA-DQ2/DQ8 frequency in adult patients with celiac disease, their first-degree relatives, and normal population in Turkey

Özgenel, Şafak Meriç; Temel, Tuncer; Teke, Hava Üsküdar; Yıldız, Pınar; Korkmaz, Hüseyin Anıl; Özakyol, Ayşegül

doi:10.5152/tjg.2019.18255

Cited by 9 publications

(13 citation statements)

References 22 publications

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“…Previous small studies from India have reported absence of these two DQ antigens in 6–16% of patients with CeD 20–22 . Small studies in other populations indicate the absence of DQ2 and/or DQ8 in 12–35% of CeD patients 23–25 . Studies now indicate that other HLA‐DQ antigens, including DQ7 and DQ9, may confer risk to CeD 26,27 …”

Section: Discussionmentioning

confidence: 97%

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Human Leukocyte Antigen DQ (HLA‐DQ) genotypes and haplotypes and their association with phenotype in patients with celiac disease in India

et al. 2021

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Background and Aim Human Leukocyte Antigen DQ (HLA‐DQ) genotypes play a permissive role in the genesis of celiac disease (CeD). In this case–control study, we used next‐generation sequencing to determine HLA‐DQA1 and ~DQB1 genotypes and haplotypes associated with CeD in Indian patients. Methods HLA‐DQA1 and ~DQB1 loci were amplified, using long‐range polymerase chain reaction (PCR), from DNA of 259 patients with symptomatic CeD (160 typical and 99 atypical), 45 asymptomatic CeD, 96 potential CeD, and 300 healthy adults. Amplicons were fragmented and sequenced on the Illumina platform, and alleles and haplotypes were assigned by matching against the HLA‐international ImMunoGeneTics (IMGT) database. Results HLA‐DQA1*05:01 (odds ratio [OR] 8.39, 95% confidence interval [CI] 5.64–12.47) and HLA‐DQB1*02:01 (OR 8.59, 95% CI 5.75–12.83) were the genotypes that showed a risk association with symptomatic CeD. Among the haplotypes, HLA‐DQA1*05:01 ~ HLA‐DQB1*02:01 (OR 8.56, 95% CI 5.67–13.19) showed a strong risk association with symptomatic CeD. When comparing symptomatic CeD with subclinical forms (asymptomatic and potential) CeD, HLA‐DQA1*05:01 ~ HLA‐DQB1*02:01 (OR 2.34, 95% CI 1.61–3.43) was significantly associated with risk of symptomatic disease. The strength of association between the HLA‐DQA1*05:01 ~ HLA‐DQB1*02:01 haplotype and the CeD phenotype showed a gradient in the order typical > atypical > asymptomatic > potential CeD. Genotypes consistent with expression of HLA DQ2 and/or 8 were noted in 128 (80%) typical, 73 atypical (74%), 27 (60%) asymptomatic, and 52 (54%) potential CeD participants. Conclusion HLA‐DQA1*05:01 ~ HLA‐DQB1*02:01 (haplotype DQ2.5) showed a very strong risk association with symptomatic CeD in Indian patients. The strength of association showed a gradient of increase from potential to typical CeD, coinciding with a phenotypic change in the celiac iceberg.

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Section: Discussionmentioning

confidence: 97%

“… 20 , 21 , 22 Small studies in other populations indicate the absence of DQ2 and/or DQ8 in 12–35% of CeD patients. 23 , 24 , 25 Studies now indicate that other HLA‐DQ antigens, including DQ7 and DQ9, may confer risk to CeD. 26 , 27 …”

Section: Discussionunclassified

Human Leukocyte Antigen DQ (HLA‐DQ) genotypes and haplotypes and their association with phenotype in patients with celiac disease in India

et al. 2021

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“…Different studies reported the prevalence ranges of HLA DQ2 and DQ8 genotype in CD patients between 73% to 95%. 38 , 39 This implies that 5% to 30% CD cases who do not possess HLA DQ2 and DQ8 genotypes can also develop CD. Dual testing of HLA genotype in conjugation with plasma citrulline excludes no risk FDRs with normal mucosa.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of the Utility of Amino Acid Citrulline as a Surrogate Metabolomic Biomarker for the Diagnosis of Celiac Disease

Lomash

Prasad

Singh

et al. 2021

Nutr Metab Insights

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Introduction: Citrulline is regarded as a biomarker for celiac disease (CD). Its utility for assessment and evaluation of additive predictive value for latent, potential CD and first degree relatives (FDRs) needs exploration. Method: Consecutive 558 index cases diagnosed as per European Society for Pediatric Gastroenterology and Nutrition (ESPGHAN) 2012 guidelines and their 1565 FDRs were evaluated over five and half year period. Serology negative FDRs at initial visit and follow ups were served as controls. HLA typing for DQ2 and DQ8 genotypes, along with plasma and dried blood spot (DBS) filter paper citrulline were evaluated. Results: Median plasma citrulline values were 20.1 and 37.33 µMol/l in cases and controls ( P < .001). Cut off values for Marsh grade 3a, 3b, and 3c were 35.0, 32.8, 25.26 µMol/l in CD patients and 36.51, 30.10, 25.26 µMol/l in biopsy proven FDR. Increasing trends of plasma citrulline levels with decreasing tTG-IgA levels were observed on follow up. Low plasma citrulline levels were observed with HLA DQ 2.5 genotype ( P < .05). Agreement between DBS and plasma citrulline was 94.8%. Conclusion: Citrulline is a good surrogate biomarker for identification of histopathological grade of damage, extent of mucosal recovery and has negative correlation with tTG-IgA. It identifies the silent and latent phase of CD. DBS citrulline provides adequate information and can be used for monitoring CD patients at remote locations.

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“…26 Özgenel ve ark. 18 çalışmasında ise ÇH'ların birinci derece akrabalarında HLADQ2 görülme sıklığı %51,7 olarak saptandı. Çölyak hastalarının birinci derece akrabalarının ÇH açısından değerlendirilmesi hastalığın genetik yatkınlığı nedeni ile önerilmektedir.…”

Section: Introductionunclassified

Çölyak Hastalığının Genetik Allel Dağılımının Değerlendirilmesi ve Türkiye Literatür Taraması

Demirbaş

Sanrı

Çaltepe

et al. 2021

Kocaeli Üniversitesi Sağlık Bilimleri Dergisi

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Amaç: Çölyak hastalığı (ÇH), genetik yatkınlığı olan bireylerde, glutene kalıcı duyarlılık sonucu gelişen, otoimmün, sistemik hastalıktır. Bu çalışmanın amacı, ÇH’nin klinik, laboratuar özellikleri ve HLA doku tiplerinin geriye dönük değerlendirilmesidir.Ayrıca lieratür taramasıyla HLA doku tipleri açısından Türkiye’de bölgelere göre farklılık ve benzerliklerin incelenmesidir. Yöntem: Çalışmaya, Temmuz 2017- Ekim 2018 tarihleri arasında ÇH tanısıyla izlenen ve genetik çalışması uygulanan 104 çocuk alındı. Google Scholarda Türkiye’de ÇH ve HLA genotiplendirme ile yapılan çalışmalar tarandı (n=11 çalışma) ve bölgelere ayrıldı. Bulgular: Çalışmaya alınan 104 hastanın 67’si kız (%64,4) ve ortalama tanı yaşı 7,9±2,38 yıl(10ay-17,2yıl) idi. Hastalarımızın HLA grupları %59,6 DQ2, %26,9 DQ8 ve %13,4 DQ2+DQ8 saptandı. Literatürdeki çalışmalar bölgeler göre değerlendirildiğinde bizim de içinde bulunduğumuz Karadeniz bölgesinde HLADQ2 %63,7 ve HLADQ8 %21,1 sıklıkla görülürken, bölgemize benzer oranlarda genotip sıklığı Akdeniz ve Doğu Anadolu bölgelerinde görülmektedir. İç Anadolu HLADQ2 %87,4 ve Marmara bölgesinde %83,6 ile daha yüksek frekansta görülmektedir. Çalışmamızda, DQA1*05 %65,4 ve DQB1*02 %12,5 oranında bulundu. Türkiye’deki diğer çalışmalarda (Marmara, Karadeniz, İç, Doğu ve Güneydoğu Anadolu Bölgeleri) görülme sıklığı DQA1*05%69,8 ve DQB1*02 %27,7 idi. Çalışmamızda HLA DQB1*02 homozigot olan hastalarda (%12,5) boy kısalığı, ishal, demir eksikliği anemisi, Marsh3 evre ve akrabalarında ÇH daha yüksekti. Sonuç: Çölyak hastalığında HLA-DQ analizi bölgesel sıklığın belirlenmesi genetik analiz maliyetini azaltmak ve bölgesel dağılıma göre özellikle semptomsuz tarama hastalarında genotiplenme yapılması erken tanı kolaylığı sağlayabilir.

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HLA-DQ2/DQ8 frequency in adult patients with celiac disease, their first-degree relatives, and normal population in Turkey

Cited by 9 publications

References 22 publications

Human Leukocyte Antigen DQ (HLA‐DQ) genotypes and haplotypes and their association with phenotype in patients with celiac disease in India

Human Leukocyte Antigen DQ (HLA‐DQ) genotypes and haplotypes and their association with phenotype in patients with celiac disease in India

Evaluation of the Utility of Amino Acid Citrulline as a Surrogate Metabolomic Biomarker for the Diagnosis of Celiac Disease

Çölyak Hastalığının Genetik Allel Dağılımının Değerlendirilmesi ve Türkiye Literatür Taraması

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