A Klothoβ Variant Mediates Protein Stability and Associates With Colon Transit in Irritable Bowel Syndrome With Diarrhea

Abstract

BACKGROUND/AIMS-Bile acid (BA) malabsorption of moderate severity is reported in 32% of patients with chronic unexplained diarrhea including diarrhea-predominant IBS (IBS-D). We hypothesize that variants of genes regulating hepatic BA synthesis play a role in IBS-D.

Alpha-2-adrenergic receptor gene polymorphism in Turkish population with irritable bowel syndrome

“…B3-adrenoceptor, cholinergic receptor muscarinic 3 polymorphisms, and tryptophan hydroxylase gene polymorphisms were also studied in IBS patients (27,28). Very recent studies about D-IBS patients address the genes regulating hepatic bile acid synthesis but more studies are needed to state an association (29,30).…”

The development of functional gastrointestinal diseases: Genetic aspects

“…В частности, изучение полиморфизма 2D6 гена цитохрома P-450 (CYP) -CYP2D6 показало, что в различных географических ре-гионах мира отмечаются различные виды CYP [47]. Число функ-ционирующих аллелей (>3, 2, 1 и 0) определяет, каким будет ме-таболизм в CYP2D6: ультрабыстрым, быстрым, промежуточным или медленным, при этом около у 1% жителей Азии и 5-10% жителей Кавказа метаболизм является медленным [48]. Наиболее частыми нефункциональными аллелями являются CYP2D6*3, CYP2D6*4, CYP2D6*5, и CYP2D6*6; данные комбинации встре-чаются примерно у 98% жителей Кавказа [49].…”

Genetic study of FGF19 receptor variants in gallstone disease

“…In a study of hepatocyte-specific gp130 knockout mice, IL-6/gp130/STAT3 signaling ameliorated liver injury in concanavalin A-induced hepatitis. 2 Also, in a study of macrophage/neutrophil-specific gp130 knockout mice, deletion of gp130 significantly decreased release of IL-6 from immune cells and was associated with more severe liver injury of concanavalin A hepatitis. 3 In IL-10-deficient mice, additional deletion of IL-6 or STAT3 resulted in hepatic steatosis and the elevation of serum alanine aminotransferase.…”

“…2 To investigate their relevance for gallstone disease, we genotyped common FGFR4 (rs351855, rs376618) and KLB (rs17618244) variants in a cohort of 239 gallstone patients from 107 families (age range, 24-80 years; 86% women) and 248 stone-free controls (age range, 21-78 years; 93% women); patient characteristics of the incipient cohort were reported in HEPATOLOGY. 3 Table 1 shows that the KLB genotype [AA] is more prevalent in cases than controls.…”

“…2 Because slow intestinal transit increases the cholelithogenic state due to hyperabsorption of cholesterol and synthesis of secondary hydrophobic bile salts such as deoxycholate, 4 …”