Amerindian mtDNA Haplogroups and Celiac Disease Risk HLA Haplotypes in Mixed‐blood Latin American Patients

Parada, Alejandra; Araya, Magdalena; Pérez-Bravo, Francisco; Méndez, Marco A.; Mimbacas, Adriana; Motta, Patricia; Martin, G.M.; Castaño, Juan Carlos; Espinosa, Nelly; Alarcón, Teresa; Canales, Paulina

doi:10.1097/mpg.0b013e31821de3fc

Cited by 19 publications

(9 citation statements)

References 28 publications

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“…Abdominal pain was a main symptom in the 32 overweight patients detected, concurring with reports by Reilly [24] and Venkatasubramani [25]. Agreeing with previous local studies [10], a high percentage of patients (89%) exhibited intense histological damage in the small intestinal mucosa at diagnosis. Previous studies in Chile show that the frequency and distribution of Human Leucocyte Antigen (HLA) -DQ2 and -DQ8 differ from those reported in Europe [26], HLA-DQB1*0301 -HLA-DQA1*302 being more frequent, but we have no data suggesting that the clinical presentation of the disease may be influenced by these genetic differences.…”

Section: Clinical Characteristicssupporting

confidence: 89%

“…Patients were diagnosed and followed in four main public pediatric hospitals in Santiago, Chile. CD has been assessed and described in patients of these hospitals in previous studies [8][9][10][11][12], providing insight about previous local conditions. Inclusion criteria were: (1) diagnosis based on at least one antibody measured [anti endomysium (EMA) and/or antitransglutaminase 2 (TTG) plus a duodenal histological lesion on endoscopic biopsies characterized by epithelial lymphocytosis and variable degrees of deepening of crypts and flattening of villi (Marsh 2 or more) [13]; (2) that weight and height data was available in at least two checkups within the first 12 months of GFD.…”

Section: Methodsmentioning

confidence: 99%

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Changes in Age at Diagnosis and Nutritional Course of Celiac Disease in the Last Two Decades

et al. 2020

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The frequency of celiac disease (CD) has increased along time, with relevant changes reported in geographical variations, clinical presentation and nutritional repercussions. In recent years, some celiac patients are presenting overweight/obesity, but it is unclear how frequent this is and to what extent undernutrition remains a concern. This is relevant because CD tends to be overlooked in overweight patients. With this in mind, we assessed age at diagnosis, clinical characteristics and nutritional status of 155 celiac patients diagnosed between 1994–2017 in four pediatric hospitals in Santiago, Chile. Since 2003, the number of patients diagnosed has increased (p < 0.0033), coinciding with antitransglutaminase and antiendomysial antibodies becoming available to public health systems. In 2000, 4.5% of patients were asymptomatic at diagnosis, suggesting that active search is not routinely applied. Gastrointestinal symptoms plus failure to thrive were significantly more frequent under 2 years (p = 0.0001). Nutritional status has improved at diagnosis and during follow up, but undernutrition remains more frequent in children <2 and <5 years (p < 0.002 and p < 0.0036, respectively). Overweight at diagnosis was reported in 2002 and obesity in 2010. After initiating treatment, since 2010, patients changing from undernourishment to overweight has sometimes been observed after only 6 months on a gluten-free diet.

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Section: Clinical Characteristicssupporting

confidence: 89%

Section: Methodsmentioning

confidence: 99%

Changes in Age at Diagnosis and Nutritional Course of Celiac Disease in the Last Two Decades

et al. 2020

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“…The quality of food support, consisting mainly of wheat, may have played a role in this outcome. Similar to native populations in Brazil and Chile (17), our study showed that only 3% of subjects had the HLA DQ2 alleles (prevalent in European populations), while 48% had the DQ8. This contrasts with the increased HLA-DQ2 allele frequency detected in Asia with high CD prevalence, as demonstrated in several recent studies (17)(18)(19)(20).…”

Section: Discussionsupporting

confidence: 72%

Prevalence of Celiac Disease and Celiac Autoimmunity in the Toba Native Amerindian Community of Argentina

Vázquez¹,

Temprano²,

Sugai³

et al. 2015

Canadian Journal of Gastroenterology and Hepatology

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“…As all of the aforementioned studies are European, we can assume an adequate validity when extrapolating these results in Europe and countries with predominantly European ancestors. In this sense, those studies showing higher frequencies of HLA-DQ2 and DQ8 negative CD patients (up to 9%) have been performed in Latin-American populations (25,26). The absence of HLA-DQ2 and DQ8 should be, therefore, carefully interpreted in non-Caucasian populations in terms of CD screening.…”

Section: Discussionmentioning

confidence: 99%

The potential usefulness of human leukocyte antigen typing for celiac disease screening: A systematic review and meta-analysis

et al. 2015

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Background: The presence of specific Human Leukocyte Antigen-DQ2 and DQ8 seems to be necessary for celiac disease development, but the real contribution of its typing for screening is still uncertain. We aim to conduct a systematic review and metaanalysis of the diagnostic performance of Human Leukocyte Antigen typing tests for celiac disease screening. Methods: Systematic review of published studies assessing accuracy of human leukocyte antigen DQ2 and DQ8 typing for the detection of celiac disease were selected. MEDLINE and EMBASE were searched from 1 st January 2004 until 31 st December 2013. Two independent researchers carried out selection and classification of studies, data extraction and analysis. Meta-analysis combining sensitivities, specificities and likelihood ratios of HLA-DQ2 and DQ8 for the diagnosis of celiac disease were carried out. Results: 6 studies including 1303 individuals were finally evaluated. Pooled sensitivity was 98% (95% confidence interval: 97-99). Overall specificity was 45% (95% confidence interval: 41-48). Regarding specificity, studies were heterogeneous and a subgroup analysis was done according to the type of population included. Overall negative likelihood ratio was 0.05 (0.03-0.09). Conclusions: Due to its great sensitivity and low negative likelihood ratio, Human Leukocyte Antigen-DQ2/DQ8 typing would be an appropriate test for ruling out celiac disease in the general population suffering related symptoms, and even more in at risk population.

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Amerindian mtDNA Haplogroups and Celiac Disease Risk HLA Haplotypes in Mixed‐blood Latin American Patients

Abstract: mtDNA haplogroups A/B/C/D were frequently found in celiac patients and controls, but no relations appeared between haplogroups, haplotypes, and clinical presentations.

Cited by 19 publications

References 28 publications

Changes in Age at Diagnosis and Nutritional Course of Celiac Disease in the Last Two Decades

Changes in Age at Diagnosis and Nutritional Course of Celiac Disease in the Last Two Decades

Prevalence of Celiac Disease and Celiac Autoimmunity in the Toba Native Amerindian Community of Argentina

The potential usefulness of human leukocyte antigen typing for celiac disease screening: A systematic review and meta-analysis

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