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Hypomorphic SI genetic variants are associated with childhood chronic loose stools.
PLoS One. 2020; 15(5):e0231891.Plos

Abstract

OBJECTIVE

The SI gene encodes the sucrase-isomaltase enzyme, a disaccharidase expressed in the intestinal brush border. Hypomorphic SI variants cause recessive congenital sucrase-isomaltase deficiency (CSID) and related gastrointestinal (GI) symptoms. Among children presenting with chronic, idiopathic loose stools, we assessed the prevalence of CSID-associated SI variants relative to the general population and the relative GI symptom burden associated with SI genotype within the study population.

METHODS

A prospective study conducted at 18 centers enrolled 308 non-Hispanic white children ≤18 years old who were experiencing chronic, idiopathic, loose stools at least once per week for >4 weeks. Data on demographics, GI symptoms, and genotyping for 37 SI hypomorphic variants were collected. Race/ethnicity-matched SI data from the Exome Aggregation Consortium (ExAC) database was used as the general population reference.

RESULTS

Compared with the general population, the cumulative prevalence of hypomorphic SI variants was significantly higher in the study population (4.5% vs. 1.3%, P < .01; OR = 3.5 [95% CI: 6.1, 2.0]). Within the study population, children with a hypomorphic SI variant had a more severe GI symptom burden than those without, including: more frequent episodes of loose stools (P < .01), higher overall stool frequency (P < .01), looser stool form (P = .01) and increased flatulence (P = .02).

CONCLUSION

Non-Hispanic white children with chronic idiopathic loose stools have a higher prevalence of CSID-associated hypomorphic SI variants than the general population. The GI symptom burden was greater among the study subjects with a hypomorphic SI variant than those without hypomorphic SI variants.

Authors+Show Affiliations

Baylor College of Medicine, Houston, TX, United States of America.Children's Center for Digestive Health Care, Atlanta, GA, United States of America.QOL Medical, LLC, Vero Beach, FL, United States of America.School of Biological Sciences, Monash University, Clayton, VIC, Australia.Children's Mercy Hospital, Kansas City, MO, United States of America.Sacramento Pediatric Gastroenterology, Sacramento, CA, United States of America.Children's Hospital of Wisconsin, Milwaukee, WI, United States of America.Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.Arnold Palmer Children's Hospital, Orlando, FL, United States of America.Johns Hopkins University, Baltimore, MD, United States of America.Primary Children's Medical Center, Salt Lake City, UT, United States of America.University of Mississippi Medical Center, Jackson, MS, United States of America.Sacramento Pediatric Gastroenterology, Sacramento, CA, United States of America.Children's Hospital Colorado, Digestive Health Institute, University of Colorado School of Medicine, Aurora, CO, United States of America.QOL Medical, LLC, Vero Beach, FL, United States of America.Children's Hospital of Los Angeles, Los Angeles, CA, United States of America.Columbia University Medical Center, New York, NY, United States of America.UCSF Benioff Children's Hospital Oakland, Oakland, CA, United States of America.Department of Pediatrics, The Ohio State University, Columbus, OH, United States of America.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

32433684

Citation

Chumpitazi, Bruno P., et al. "Hypomorphic SI Genetic Variants Are Associated With Childhood Chronic Loose Stools." PloS One, vol. 15, no. 5, 2020, pp. e0231891.
Chumpitazi BP, Lewis J, Cooper D, et al. Hypomorphic SI genetic variants are associated with childhood chronic loose stools. PLoS ONE. 2020;15(5):e0231891.
Chumpitazi, B. P., Lewis, J., Cooper, D., D'Amato, M., Lim, J., Gupta, S., Miranda, A., Terry, N., Mehta, D., Scheimann, A., O'Gorman, M., Tipnis, N., Davies, Y., Friedlander, J., Smith, H., Punati, J., Khlevner, J., Setty, M., & Di Lorenzo, C. (2020). Hypomorphic SI genetic variants are associated with childhood chronic loose stools. PloS One, 15(5), e0231891. https://doi.org/10.1371/journal.pone.0231891
Chumpitazi BP, et al. Hypomorphic SI Genetic Variants Are Associated With Childhood Chronic Loose Stools. PLoS ONE. 2020;15(5):e0231891. PubMed PMID: 32433684.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hypomorphic SI genetic variants are associated with childhood chronic loose stools. AU - Chumpitazi,Bruno P, AU - Lewis,Jeffery, AU - Cooper,Derick, AU - D'Amato,Mauro, AU - Lim,Joel, AU - Gupta,Sandeep, AU - Miranda,Adrian, AU - Terry,Natalie, AU - Mehta,Devendra, AU - Scheimann,Ann, AU - O'Gorman,Molly, AU - Tipnis,Neelesh, AU - Davies,Yinka, AU - Friedlander,Joel, AU - Smith,Heather, AU - Punati,Jaya, AU - Khlevner,Julie, AU - Setty,Mala, AU - Di Lorenzo,Carlo, Y1 - 2020/05/20/ PY - 2019/12/09/received PY - 2020/04/02/accepted PY - 2020/5/21/entrez PY - 2020/5/21/pubmed PY - 2020/7/25/medline SP - e0231891 EP - e0231891 JF - PloS one JO - PLoS ONE VL - 15 IS - 5 N2 - OBJECTIVE: The SI gene encodes the sucrase-isomaltase enzyme, a disaccharidase expressed in the intestinal brush border. Hypomorphic SI variants cause recessive congenital sucrase-isomaltase deficiency (CSID) and related gastrointestinal (GI) symptoms. Among children presenting with chronic, idiopathic loose stools, we assessed the prevalence of CSID-associated SI variants relative to the general population and the relative GI symptom burden associated with SI genotype within the study population. METHODS: A prospective study conducted at 18 centers enrolled 308 non-Hispanic white children ≤18 years old who were experiencing chronic, idiopathic, loose stools at least once per week for >4 weeks. Data on demographics, GI symptoms, and genotyping for 37 SI hypomorphic variants were collected. Race/ethnicity-matched SI data from the Exome Aggregation Consortium (ExAC) database was used as the general population reference. RESULTS: Compared with the general population, the cumulative prevalence of hypomorphic SI variants was significantly higher in the study population (4.5% vs. 1.3%, P < .01; OR = 3.5 [95% CI: 6.1, 2.0]). Within the study population, children with a hypomorphic SI variant had a more severe GI symptom burden than those without, including: more frequent episodes of loose stools (P < .01), higher overall stool frequency (P < .01), looser stool form (P = .01) and increased flatulence (P = .02). CONCLUSION: Non-Hispanic white children with chronic idiopathic loose stools have a higher prevalence of CSID-associated hypomorphic SI variants than the general population. The GI symptom burden was greater among the study subjects with a hypomorphic SI variant than those without hypomorphic SI variants. SN - 1932-6203 UR - https://www.unboundmedicine.com/medline/citation/32433684/Hypomorphic_SI_genetic_variants_are_associated_with_childhood_chronic_loose_stools L2 - https://dx.plos.org/10.1371/journal.pone.0231891 DB - PRIME DP - Unbound Medicine ER -