Detection of mutations in NOD2/CARD15 gene in Arab patients with Crohn's disease

Siddique, Iqbal; Mustafa, Abu Salim; Khan, Islam Ullah; Ziyab, Ali H.; Altarrah, Munira; Sulaiman, Riyas; Kadungothayil, Numeer; Shaheed, Faraz

doi:10.4103/sjg.sjg_582_20

Cited by 9 publications

(8 citation statements)

References 37 publications

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“…We reported a high rate of CD patients (32%) as carriers of the NOD2/CARD15 mutation among a subgroup of Arabs in Israel [ 7 ]. Only scant data are available regarding the genetics among IBD patients in the Arab population with a diverse mutation rate [ 9 , 19 ]. The Arab world in general, and particularly Arabs in Israel, have undergone enormous environmental changes over the last decades: major urbanization and Westernization of nutritional patterns, smoking rates, and antibiotic use in childhood have led to consequent changes in the intestinal microbiome, and all these together could be the cause for increase of IBD prevalence.…”

Section: Discussionmentioning

confidence: 99%

“…A NOD2/CARD15 carrier rate of 32% among CD Bedouin patients was reported, 47.4% among Ashkenazi Jewish CD patients, 27.4% among Sephardic Jews [ 7 , 12 ], and 7–16% among Caucasian CD patients [ 13 ]. A lower carrier rate of 8.2% was found among Arabs in other regions in Israel and other countries [ 9 , 19 , 24 ]. The carrier rate is different in the different ethnic groups; this could be impacting the clinical course and manifestation of the disease.…”

Section: Discussionmentioning

confidence: 99%

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Ethnic Issues and Disparities in Inflammatory Bowel Diseases: What Can We Learn from the Arab Population in Israel?

Abu-Freha,

Ealiwa,

AbuTailakh

et al. 2023

JPM

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Inflammatory bowel diseases are increasing among different ethnic groups. We aimed to compare the clinical characteristics, complications, and outcomes among Arab and Jewish people sharing the same healthcare system. All patients older than 18 years with a diagnosis of Crohn’s disease (CD) or ulcerative colitis (UC) between the years 2000 and 2021 were included. Data regarding demographics, disease characteristics, extraintestinal manifestation, treatment, comorbidities, and mortality were retrieved. A total of 1263 (9.8%) Arab CD patients were compared with 11,625 Jewish CD patients, and 1461 (11.8%) Arab UC patients were compared to 10,920 Jewish patients. Arab CD patients were younger at diagnosis, 36.11 ± 16.7 compared to 39.98 ± 19.4 years, p < 0.001, 59.5% males compared to 48.7%, p < 0.001; in addition, Arab CD patients had a higher rate of anal fissure, perianal abscess, erythema nodosum, diabetes mellitus, obesity, liver cirrhosis, and male infertility. Arab CD patients were less frequently treated with azathioprine or mercaptopurine compared with Jewish patients. No significant difference was found in the rate of anti-TNF treatment, but a higher rate of steroids treatment was found. The all-cause mortality of CD patients was lower among Arab patients (8.4% vs. 10.2%, p = 0.039). Significant differences were found regarding disease characteristics, course, comorbidities, and treatment among Arab and Jewish patients with IBD.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Ethnic Issues and Disparities in Inflammatory Bowel Diseases: What Can We Learn from the Arab Population in Israel?

Abu-Freha,

Ealiwa,

AbuTailakh

et al. 2023

JPM

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“…Treatment of Crohn's disease is considered as a developing problem due to its widely heterogeneous manifestations, coincidence of characteristics with other inflammatory diseases, often elusive extraintestinal manifestations, and uncertain etiology. The reasons include genetic, infectious, and immunological factors [36][37][38][39][40][41][42][43][44][45].…”

Section: Crohn's Diseasementioning

confidence: 99%

“…An increased frequency of mutation of the CARD15 gene (NOD2 gene) was revealed. The CARD15 gene encodes a protein containing a caspase activation domain (caspase recruitment domain containing protein 15) [40][41][42]. Some genetic variants of CARD15 affect amino-acid sequences in leucineenriched repeats or in adjacent regions of the protein.…”

Section: Hereditary Factorsmentioning

confidence: 99%

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Causal Relationship between Physiological and Pathological Processes in the Brain and in the Gastrointestinal Tract: The Brain–Intestine Axis

Реутов

Sorokina

2022

BIOPHYSICS

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The brain and gastrointestinal tract are the most important organs responsible for detecting, transmitting, integrating, and responding to signals coming from the internal and external environment. A bidirectional system of neurohumoral communication (the "intestine-brain" axis) combines the activity of the intestine and brain (or brain and intestine) of a person. It affects human development and behavior. This paper analyzes the literature data on the existence of a relationship between the central and enteral nervous systems. Based on data on the number of neurons in the enteral nervous system (approximately 250 million nerve cells), the concept of a "second brain" in the intestine has been proposed in foreign literature, which, by its influence on the brain, can have a more powerful influence than the spinal cord (approximately 10 million neurons) with its autonomic nervous system. However, it turned out that Russian scientists, academicians of the Academy of Sciences of the Soviet Union I.P. Pavlov, K.M. Bykov, and A.M. Ugolev, analyzed cortical-visceral relationships in the 20th century and wrote about the existence of a connection between the central and enteral nervous systems. One of the urgent problems of modern physiology, pathophysiology, biophysics, biochemistry, and medicine is to clarify the causal relationship between the central and enteral nervous systems, as well as between neurological, mental, and gastrointestinal diseases in order to combine the efforts of specialists of various medical and biological profiles to solve urgent medical problems.

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NOD2 and Crohn’s Disease Clinical Practice: From Epidemiology to Diagnosis and Therapy, Rewired

Kayali,

Fantasia,

Gaiani

et al. 2024

Inflammatory Bowel Diseases

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Crohn’s disease (CD) is a chronic inflammatory bowel disease with a multifactorial pathogenesis involving environmental and genetic factors. Since the late 20th century, the discovery of the first susceptibility gene (NOD2, previously referred to as CARD15) for CD has paved the way for further investigations into the correlations between clinical features and genetics, and its potential impact on clinical practice has fueled the research in the last 2 decades. Recent therapeutic advancements involving novel biologic drugs and small molecules have shifted inflammatory bowel disease management from a disease-centered to a patient-centric approach. To date, the role of NOD2 has not been fully understood yet. Recent data suggest that its clinical impact may be greater than currently recognized. This review overviews the most common NOD2 variants’ role in real-life clinical practice. These genetic variants increase the risk of developing the disease and can aid in tailoring diagnosis and treatment. They are associated with the stricturing phenotype and ileal involvement and increase the risk of steroid refractoriness. In the meantime, limited and inconclusive evidence exists regarding their predictive role in response to azathioprine, biologic drugs, and small molecules. Eventually, their role in increasing the risk for surgery is evident, especially in those with the L1007fs variant. If further trials will support the initial evidence reported so far, NOD2 genetic variants will emerge as possible candidates for developing precision medicine in CD.

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Detection of mutations in NOD2/CARD15 gene in Arab patients with Crohn's disease

Cited by 9 publications

References 37 publications

Ethnic Issues and Disparities in Inflammatory Bowel Diseases: What Can We Learn from the Arab Population in Israel?

Ethnic Issues and Disparities in Inflammatory Bowel Diseases: What Can We Learn from the Arab Population in Israel?

Causal Relationship between Physiological and Pathological Processes in the Brain and in the Gastrointestinal Tract: The Brain–Intestine Axis

NOD2 and Crohn’s Disease Clinical Practice: From Epidemiology to Diagnosis and Therapy, Rewired

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