Shared genetic susceptibilities for irritable bowel syndrome and depressive disorder in Chinese patients uncovered by pooled whole-exome sequencing
| العنوان: | Shared genetic susceptibilities for irritable bowel syndrome and depressive disorder in Chinese patients uncovered by pooled whole-exome sequencing |
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| المؤلفون: | Meibo He, Liping Duan, Zelian Qin, Zhiren Wang, Zuojing Liu, Shi-Wei Zhu |
| المصدر: | Journal of Advanced Research Journal of Advanced Research, Vol 23, Iss, Pp 113-121 (2020) |
| بيانات النشر: | Elsevier BV, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | 0301 basic medicine, Oncology, medicine.medical_specialty, Disease, Article, 03 medical and health sciences, 0302 clinical medicine, Functional gastrointestinal disorder, Internal medicine, Genotype, medicine, Allele, lcsh:Science (General), Exome sequencing, Irritable bowel syndrome, ComputingMethodologies_COMPUTERGRAPHICS, lcsh:R5-920, Multidisciplinary, Depressive disorder, business.industry, medicine.disease, Comorbidity, Diarrhea, 030104 developmental biology, Pooled-sequencing, Whole-exome sequencing, 030220 oncology & carcinogenesis, medicine.symptom, lcsh:Medicine (General), business, Genetic susceptibilities, lcsh:Q1-390 |
| الوصف: | Graphical abstract Irritable bowel syndrome (IBS) is the most prevalent functional gastrointestinal disorder presenting a high comorbidity with depressive disorder (DD). Many studies have confirmed that these two disease share the similar pathophysiological process, but evidence of the genetic risks is limited. This study aimed to analyze the genetic susceptibilities for IBS and DD in Chinese patients. Pooled whole-exome sequencing (pooled-WES) was performed to identify the candidate variants in the group of diarrhea predominant IBS (IBS-D) patients, DD patients, and healthy controls (HC). Then, targeted sequencing was used to validate the candidate variants in three additional cohorts of IBS-D, DD, and HC. Four variants associated with both IBS-D and DD were identified through pooled-WES, and three of them were validated in targeted sequencing. SYT8 rs3741231 G allele and SSPO rs12536873 TT genotype were associated with both IBS-D and DD. The genes of these variants are important in neurogenesis and neurotransmission. In addition, we found COL6A1 rs13051496, a unique risk variation for IBS-D. It increased the IBS-D risk and had a positive correlation with the scores of abdominal bloating and dissatisfaction of bowel habits. Through the results of this study, it provides a genetic basis for the high comorbidity of IBS-D and DD. |
| تدمد: | 2090-1232 1253-6873 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e19c48596217f7f67a97859b6bcd47cc https://doi.org/10.1016/j.jare.2020.01.016 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....e19c48596217f7f67a97859b6bcd47cc |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20901232 12536873 |
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