| Autor: |
Hong H; Department of Biobehavioral Health Sciences, University of Pennsylvania School of Nursing., Schulze KV; Department of Molecular and Human Genetics, Baylor College of Medicine., Copeland IE; Department of Molecular and Human Genetics, Baylor College of Medicine., Atyam M; Department of Medicine, Baylor College of Medicine., Kamp K; Department of Biobehavioral Nursing and Health Informatics, University of Washington School of Nursing., Hanchard NA; Department of Molecular and Human Genetics, Baylor College of Medicine., Belmont J; Departments of Molecular and Human Genetics and Pediatrics, Baylor College of Medicine., Ringel-Kulka T; Department of Maternal and Child Health, University of North Carolina at Chapel Hill Gillings School of Global Public Health., Heitkemper M; Department of Biobehavioral Nursing and Health Informatics, University of Washington School of Nursing., Shulman RJ; Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine. |
| Jazyk: |
angličtina |
| Zdroj: |
MedRxiv : the preprint server for health sciences [medRxiv] 2023 Sep 22. Date of Electronic Publication: 2023 Sep 22. |
| DOI: |
10.1101/2023.09.20.23295800 |
| Abstrakt: |
Irritable Bowel Syndrome (IBS) is characterized by abdominal pain and alterations in bowel pattern, such as constipation (IBS-C), diarrhea (IBS-D), or mixed (IBS-M). Since malabsorption of ingested carbohydrates (CHO) can cause abdominal symptoms that closely mimic those of IBS, identifying genetic mutations in CHO digestive enzymes associated with IBS symptoms is critical to ascertain IBS pathophysiology. Through candidate gene association studies, we identify several common variants in TREH , SI, SLC5A1 and SLC2A5 that are associated with IBS symptoms. By investigating rare recessive Mendelian or oligogenic inheritance patterns, we identify case-exclusive rare deleterious variation in known disease genes ( SI, LCT, ALDOB, and SLC5A1) as well as candidate disease genes ( MGAM and SLC5A2), providing potential evidence of monogenic or oligogenic inheritance in a subset of IBS cases. Finally, our data highlight that moderate to severe IBS-associated gastrointestinal symptoms are often observed in IBS cases carrying one or more of deleterious rare variants. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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