Lactase genetic polymorphisms and coeliac disease in children: a cohort study

Kuchay, Raja A.H.; Thapa, Babu Ram; Mahmood, Akhtar; Anwar, Mumtaz; Mahmood, Safrun

doi:10.3109/03014460.2014.944216

Cited by 7 publications

(6 citation statements)

References 26 publications

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“…Across various studies, HLA-DQ2/DQ8 serotypes have been reported in 13–30% of different populations in India [ 14 ]. The allele prevalence of HLA-DQB1*02 in northern India ranged from 16–31%, while that of HLA-DQB1*0302 ranged from 0–5% which is in accordance with our results [ 7 ]. The significant differences in the frequency of HLA-DQ2 and HLA-DQ8 alleles in Indian (Rajasthan) patients compared with the controls demonstrates the importance of these alleles in CD development, and supports the possibility of using HLA-DQ typing in confirming CD diagnosis.…”

Section: Discussionsupporting

confidence: 92%

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Human Leukocyte Antigen-DQ Genotyping in Pediatric Celiac Disease

Pareek

Gupta

Sharma

et al. 2023

Pediatr Gastroenterol Hepatol Nutr

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Purpose The purpose of this study was to determine the pattern of human leukocyte antigen (HLA)-DQ genotype in children diagnosed with celiac disease (CD) (biopsy proven), and to compare this with a control group; and secondarily, to correlate HLA genotypes with clinical profiles of CD. Methods This cross-sectional comparative observational study included 26 controls and 52 patients diagnosed with CD who presented at Sir Padampat Mother and Child Health Institute, Jaipur, from May, 2017 to October, 2018. HLA DQ genotype was assessed for each patients and correlated with clinical profiles. Results HLA DQ2/DQ8 genotypes were significantly more common in CD (present in 100.0% cases) than in controls (23.1%) in Northern India (Rajasthan). When HLA DQ2.5 and DQ8 were present together, individuals had significantly more atypical presentations and severe findings on duodenal biopsy. Similarly, patients with the HLA DQ 2.5 genotype were also predisposed to more severe endoscopic findings, while HLA DQ2.2 predisposed them to less severe biopsy findings. HLA DQ8 was significantly associated with later age at diagnosis (>5 years) and shorter stature. The highest HLA DQ relative risk (RR) for CD development was associated with HLA DQ2.5 and DQ2.2 in combination, followed by HLA DQ2.5 and DQ8 in combination, while HLA DQx.5 and HLA DQ2.2 together had the lowest risk. Conclusion HLA DQ2/DQ8 genotypes are strongly associated with pediatric CD patients in northern India. These genotypes and their combinations may be associated with different clinical presentations of CD, and may help predict severity of CD.

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Section: Discussionsupporting

confidence: 92%

“…Studies from the Western world suggest that 30–35% of the general population express CD-associated HLA genotypes [ 4 5 6 ]. The prevalence of HLA-DQ2 in north Indian populations is around 16–31% while that of DQ8 is around 0–5% [ 7 ]. Over 90% of CD patients express the HLA-DQ2.5 heterodimer (DQA1*05 and DQB1*02).…”

Section: Introductionmentioning

confidence: 99%

Human Leukocyte Antigen-DQ Genotyping in Pediatric Celiac Disease

Pareek

Gupta

Sharma

et al. 2023

Pediatr Gastroenterol Hepatol Nutr

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“…Genetic analyses for susceptibility genes using whole blood . The majority of studies on autoimmunity within human biology have looked at susceptibility genes for various AIID in multiple populations using DNA extracted from whole blood, amplified via polymerase chain reaction, and genotyped using various methods (see: AlFadhli et al, 2013; AlFadhli & Jahabani, 2014; Ali et al, 2012; Chabchoub et al, 2009; Chua et al, 2010; Diaz‐Horta et al, 2010; Kammoun‐krichen et al, 2008; Kuchay et al, 2015; Makni et al, 2007). Although valuable, data obtained from this type of genetic analysis can tell us about susceptibility to developing autoimmunity, but cannot tell us about current, active AIID or the likelihood that AIID will manifest later in life in individuals with certain genetic variants.…”

Section: What Methods Have Been Used To Measure Autoimmunity In Populmentioning

confidence: 99%

“…Multiple studies in biological anthropology and human biology have found links between AIID susceptibility and a number of gene polymorphisms in multiple populations (Examples: AlFadhli & Jahabani, 2014; AlFadhli, Mohammed, & Shubaili, 2013; Begovich et al, 2004; Bottini et al, 2004; Chabchoub et al, 2009; Chua, Puah, Chew, Tan, & Lian, 2010; Kammoun‐krichen et al, 2008; Kuchay, Thapa, Mahmood, Anwar, & Mahmood, 2015; Kyogoku et al, 2004; Makni, Kacem, Rebaï, Abid, & Ayadi, 2007; Velaga et al, 2004). These polymorphisms and associated AIID include, but are certainly not limited to, the following examples.…”

Section: Why Is Autoimmunity Of Interest To Human Biologists?mentioning

confidence: 99%

Measuring attack on self: The need for field‐friendly methods development and research on autoimmunity in human biology

Cepon-Robins

2020

American J Hum Biol

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Background: Autoimmune and inflammatory disorder (AIID) prevalence appears to be increasing in all but the world's poorest regions and countries. Autoimmune diseases occur when there is a breakdown in processes that regulate inflammation and self-recognition by immune cells. Very few field-based studies have been conducted among Indigenous populations and underserved communities with limited access to medical care. This is due, in part, to the fact that autoimmune diseases are difficult to diagnose, even in clinical settings. In remote field settings these difficulties are compounded by the absence of infrastructure necessary for sample storage and analysis, and the lack of hospital/clinic access for more invasive diagnostic procedures. Because of these limitations, little is known about the prevalence of autoimmunity outside wealthy regions and clinical settings. Aims: The present paper discusses why AIID are of critical importance in human biology research and why more work needs to be devoted to validating, testing, and utilizing methods for detecting autoantibodies and other biomarkers related to autoimmunity in field-friendly, minimally invasivelycollected samples. This paper reviews some of the methods used to diagnose AIIDs in clinical settings, and highlights methods that have been used in studies within human biology and related fields, emphasizing the invasiveness of specific methods and their feasibility in remote field settings. Discussion and Conclusions: Risk for AIID is affected by several reproductive, dietary, environmental, and genetic factors. Human biologists have unique perspectives that they can bring to autoimmunity research, and more populationbased studies on autoimmunity are needed within these and related fields.

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“…However, previous data suggest that also patients with CeD on a gluten-free diet frequently claim lactose intolerance and therefore avoid milk and dairy products 2. Recently, it has been demonstrated that there is no association between the type of adult hypolactasia gene mutations and CeD 3. Milk avoidance in patients with CeD may depend on the fact that lactose intolerance is determined not only by the expression of lactase gene but also by the dose of lactose, intestinal flora, gastrointestinal motility, small intestinal bacterial overgrowth and sensitivity of the gastrointestinal tract to the generation of gas and other fermentation products of lactose digestion4 and other unidentified factors.…”

Section: Introductionmentioning

confidence: 99%

Coeliac disease: no difference in milk and dairy products consumption in comparison with controls

Zingone

Iovino

Bucci

et al. 2019

BMJNPH

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BackgroundNutritional deficiencies are common in patients with coeliac disease and they can cause osteopenia among other associated diseases. Reduced consumption of milk and dairy products may play a major role in determining low bone mass in patients with coeliac disease.AimWe aimed to investigate milk and dairy products consumption in patients with coeliac disease compared with the general population.MethodsWe examined the average consumption of milk and dairy products and the reasons for not consuming them. An online survey was sent by email to patients with coeliac disease on a gluten-free diet and aged 18–75. Matched controls were selected among volunteers who responded to the survey posted on the public access sites. Differences in frequencies and means between the two groups were calculated using the χ2 test and t-test, respectively. All tests were two-tailed with a significance level set at p<0.05.Results176 patients with coeliac disease and 528 controls participated in the study. We found that 22.2% of the patients with coeliac disease and 19.9% of controls did not drink fluid milk on a regular basis; lactose-free milk was preferred by 20.4% of the patients with coeliac disease and by 19% of controls (p=0.69). Only a minority of patients with coeliac disease contacted a doctor before having lactose-free milk, despite this being led by the presence of gastrointestinal symptoms. More patients with coeliac disease than the general population reported a breath test before avoiding milk and dairy products.ConclusionsThere is no significant difference between patients with coeliac disease and controls in regular milk consumption. Follow-up visits for patients with coeliac disease could avoid unnecessary dietary restrictions.

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Lactase genetic polymorphisms and coeliac disease in children: a cohort study

Abstract: There appears to be no significant correlation between C/T -13910 or G/A -22018 SNPs of AtH and CD. Children with C/C or G/G genotype of AtH may not be at greater risk of CD.

Cited by 7 publications

References 26 publications

Human Leukocyte Antigen-DQ Genotyping in Pediatric Celiac Disease

Human Leukocyte Antigen-DQ Genotyping in Pediatric Celiac Disease

Measuring attack on self: The need for field‐friendly methods development and research on autoimmunity in human biology

Coeliac disease: no difference in milk and dairy products consumption in comparison with controls

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