Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome

Gut

Volumn 67, Issue 2, 2018, Pages 263-270

  Henström, Maria ^a   Diekmann, Lena ^b   Bonfiglio, Ferdinando ^a   Hadizadeh, Fatemeh ^a   Kuech, Eva Maria ^b   Von Köckritz Blickwede, Maren ^b   Thingholm, Louise B ^c   Zheng, Tenghao ^a   Assadi, Ghazaleh ^a   DIerks, Claudia ^b   Heine, Martin ^b   Philipp, Ute ^b   DIstl, Ottmar ^b   Money, Mary E ^d,e   Belheouane, Meriem ^c,f   Heinsen, Femke Anouska ^c   Rafter, Joseph ^a   Nardone, Gerardo ^g   Cuomo, Rosario ^g   Usai Satta, Paolo ^h   Galeazzi, Francesca ⁱ   Neri, Matteo ^j   Walter, Susanna ^k   Simrén, Magnus ^l,m   Karling, Pontus ⁿ   Ohlsson, Bodil ^o,p   Schmidt, Peter T ^q   Lindberg, Greger ^q   Dlugosz, Aldona ^q   Agreus, Lars ^a   Andreasson, Anna ^a,r   Mayer, Emeran ^s   Baines, John F ^c,f   Engstrand, Lars ^a   Portincasa, Piero ^t   Bellini, Massimo ^u   Stanghellini, Vincenzo ^v   Barbara, Giovanni ^v   Chang, Lin ^s   Camilleri, Michael ^w   Franke, Andre ^c   Naim, Hassan Y ^b   D'Amato, Mauro ^a,q,x   more..

^a KAROLINSKA INSTITUTE   (Sweden)

^b UNIVERSITY OF VETERINARY MEDICINE HANNOVER   (Germany)

^c UNIVERSITY OF KIEL   (Germany)

^d UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^e Meritus Medical Center   (United States)

^f MAX PLANCK INSTITUTE FOR EVOLUTIONARY BIOLOGY   (Germany)

^g FEDERICO II UNIVERSITY HOSPITAL   (Italy)

^h BROTZU HOSPITAL   (Italy)

ⁱ UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^j UNIVERSITY OF CHIETI   (Italy)

^k LINKÖPING UNIVERSITY   (Sweden)

^l UNIVERSITY OF GOTHENBURG   (Sweden)

^m UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

ⁿ UMEÅ UNIVERSITY   (Sweden)

^o LUND UNIVERSITY HOSPITAL   (Sweden)

^p LUND UNIVERSITY   (Sweden)

^q KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^r STOCKHOLM UNIVERSITY   (Sweden)

^s UNIVERSITY OF CALIFORNIA   (United States)

^t UNIVERSITY OF BARI   (Italy)

^u UNIVERSITY OF PISA   (Italy)

^v UNIVERSITY OF BOLOGNA   (Italy)

^w Clinical Enteric Neuroscience Translational and Epidemiological Research Mayo Clinic   (United States)

^x BASQUE FOUNDATION FOR SCIENCE   (Spain)

more..

Author keywords

DIARRHOEA; GENETICS; IRRITABLE BOWEL SYNDROME; POLYMORPHIC VARIATION

Indexed keywords

SUCRASE ISOMALTASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CARBOHYDRATE INTOLERANCE; CONGENITAL SUCRASE ISOMALTASE DEFICIENCY; CONTROLLED STUDY; DIARRHEA; FECES MICROFLORA; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HUMAN; INTESTINE FUNCTION; IRRITABLE COLON; MAJOR CLINICAL STUDY; MALE; PARABACTEROIDES; PRIORITY JOURNAL; STOOL FREQUENCY; SUCRASE ISOMALTASE GENE; SWEDE (PEOPLE); ANIMAL; CASE CONTROL STUDY; CELL LINE; CELL MEMBRANE; CLINICAL TRIAL; COMPLICATION; DEFECATION; DEFICIENCY; DISORDERS OF CARBOHYDRATE METABOLISM; DNA MUTATIONAL ANALYSIS; ENZYMOLOGY; EXON; FECES; GENE DOSAGE; GENETIC TRANSFECTION; GENETICS; GENOTYPE; HAPLORHINI; METABOLISM; MICROBIOLOGY; MIDDLE AGED; MULTICENTER STUDY; PHENOTYPE; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ANIMALS; CARBOHYDRATE METABOLISM, INBORN ERRORS; CASE-CONTROL STUDIES; CELL LINE; CELL MEMBRANE; DEFECATION; DIARRHEA; DNA MUTATIONAL ANALYSIS; EXONS; FECES; FEMALE; GENE DOSAGE; GENOTYPE; HAPLORHINI; HUMANS; IRRITABLE BOWEL SYNDROME; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; SUCRASE-ISOMALTASE COMPLEX; TRANSFECTION;

EID: 85006058898     PISSN: 00175749     EISSN: 14683288     Source Type: Journal    
DOI: 10.1136/gutjnl-2016-312456     Document Type: Article

References (37)

1. Sperber AD, Dumitrascu D, Fukudo S, et al. The global prevalence of IBS in adults remains elusive due to the heterogeneity of studies: a Rome Foundation working team literature review. Gut Published Online First: 27 Jan 2016. doi: 10. 1136/ gutjnl-2015-311240
2. Chey WD, Kurlander J, Eswaran S. Irritable bowel syndrome: a clinical review. JAMA 2015;313:949-58.
3. Drossman DA. The functional gastrointestinal disorders and the Rome III process. Gastroenterology 2006;130:1377-90.
4. Camilleri M. Peripheral mechanisms in irritable bowel syndrome. N Engl J Med 2012;367:1626-35.
5. Gazouli M, Wouters MM, Kapur-Pojski L, et al. Lessons learned-resolving the enigma of genetic factors in IBS. Nat Rev Gastroenterol Hepatol 2016;13:77-87.
6. Ragnarsson G, Bodemar G. Pain is temporally related to eating but not to defaecation in the irritable bowel syndrome (IBS). Patients' description of diarrhea, constipation and symptom variation during a prospective 6-week study. Eur J Gastroenterol Hepatol 1998;10:415-21.
7. Böhn L, Störsrud S, Törnblom H, et al. Self-reported food-related gastrointestinal symptoms in IBS are common and associated with more severe symptoms and reduced quality of life. Am J Gastroenterol 2013;108:634-41.
8. Gibson PR, Varney J, Malakar S, et al. Food components and irritable bowel syndrome. Gastroenterology 2015;148:1158-74.
9. De Giorgio R, Volta U, Gibson PR. Sensitivity to wheat, gluten and FODMAPs in IBS: facts or fiction? Gut 2016;65:169-78.
10. Money ME, Walkowiak J, Virgilio C, et al. Pilot study: a randomised, double blind, placebo controlled trial of pancrealipase for the treatment of postprandial irritable bowel syndrome-diarrhoea. Frontline Gastroenterol 2011;2:48-56.
11. Karnsakul W, Luginbuehl U, Hahn D, et al. Disaccharidase activities in dyspeptic children: biochemical and molecular investigations of maltase-glucoamylase activity. J Pediatr Gastroenterol Nutr 2002;35:551-6.
12. Treem WR. Congenital sucrase-isomaltase deficiency. J Pediatr Gastroenterol Nutr 1995;21:1-14.
13. Diaz-Sotomayor M, Quezada-Calvillo R, Avery SE, et al. Maltase-glucoamylase modulates gluconeogenesis and sucrase-isomaltase dominates starch digestion glucogenesis. J Pediatr Gastroenterol Nutr 2013;57:704-12.
14. Alfalah M, Keiser M, Leeb T, et al. Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency. Gastroenterology 2009;136:883-92.
15. Naim HY, Heine M, Zimmer K-P. Congenital sucrase-isomaltase deficiency: heterogeneity of inheritance, trafficking, and function of an intestinal enzyme complex. J Pediatr Gastroenterol Nutr 2012;55(Suppl 2):S13-20.
16. Ouwendijk J, Moolenaar CE, Peters WJ, et al. Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment. J Clin Invest 1996;97:633-41.
17. Muldoon C, Maguire P, Gleeson F. Onset of sucrase-isomaltase deficiency in late adulthood. Am J Gastroenterol 1999;94:2298-9.
18. Ringrose RE, Preiser H, Welsh JD. Sucrase-isomaltase ( palatinase) deficiency diagnosed during adulthood. Dig Dis Sci 1980;25:384-7.
19. Uhrich S, Wu Z, Huang J-Y, et al. Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID. J Pediatr Gastroenterol Nutr 2012;55 (Suppl 2):S34-5.
20. Wouters MM, Lambrechts D, Knapp M, et al. Genetic variants in CDC42 and NXPH1 as susceptibility factors for constipation and diarrhoea predominant irritable bowel syndrome. Gut 2014;63:1103-11.
21. Zucchelli M, Camilleri M, Andreasson AN, et al. Association of TNFSF15 polymorphism with irritable bowel syndrome. Gut 2011;60:1671-7.
22. Ek WE, Reznichenko A, Ripke S, et al. Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts. Gut 2015;64:1774-82.
23. Beyder A, Mazzone A, Strege PR, et al. Loss-of-function of the voltage-gated sodium channel NaV1. 5 (channelopathies) in patients with irritable bowel syndrome. Gastroenterology 2014;146:1659-68.
24. Grasberger H, Chang L, Shih W, et al. Identification of a functional TPH1 polymorphism associated with irritable bowel syndrome bowel habit subtypes. Am J Gastroenterol 2013;108:1766-74.
25. Orand A, Gupta A, Shih W, et al. Catecholaminergic gene polymorphisms are associated with gi symptoms and morphological brain changes in irritable bowel syndrome. PLoS ONE 2015;10:e0135910.
26. Walter SA, Kjellström L, Nyhlin H, et al. Assessment of normal bowel habits in the general adult population: the Popcol study. Scand J Gastroenterol 2010;45:556-66.
27. Kjellström L, Molinder H, Agréus L, et al. A randomly selected population sample undergoing colonoscopy: prevalence of the irritable bowel syndrome and the impact of selection factors. Eur J Gastroenterol Hepatol 2014;26:268-75.
28. Sander P, Alfalah M, Keiser M, et al. Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. Hum Mutat 2006;27:119.
29. Moolenaar CE, Naim HY. Cloning and expression of human intestinal sucrase-isomaltase. Biochem Soc Trans 1995;23:304S.
30. Dahlqvist A. Assay of intestinal disaccharidases. Anal Biochem 1968;22:99-107.
31. Kircher M, Witten DM, Jain P, et al. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 2014;46:310-15.
32. Chassard C, Lacroix C. Carbohydrates and the human gut microbiota. Curr Opin Clin Nutr Metab Care 2013;16:453-60.
33. Halpert A, Dalton CB, Palsson O, et al. What patients know about irritable bowel syndrome (IBS) and what they would like to know. National Survey on Patient Educational Needs in IBS and development and validation of the Patient Educational Needs Questionnaire (PEQ). Am J Gastroenterol 2007;102:1972-82.
34. Bohn L, Storsrud S, Liljebo T, et al. Diet low in FODMAPs reduces symptoms of irritable bowel syndrome as well as traditional dietary advice: a randomized controlled trial. Gastroenterology 2015;149:1399-407.
35. Wu GD, Chen J, Hoffmann C, et al. Linking long-term dietary patterns with gut microbial enterotypes. Science 2011;334:105-8.
36. Noor SO, Ridgway K, Scovell L, et al. Ulcerative colitis and irritable bowel patients exhibit distinct abnormalities of the gut microbiota. BMC Gastroenterol 2010;10:134.
37. Rangel I, Sundin J, Fuentes S, et al. The relationship between faecal-associated and mucosal-associated microbiota in irritable bowel syndrome patients and healthy subjects. Aliment Pharmacol Ther 2015;42:1211-21.