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1.
J Gastroenterol Hepatol ; 36(2): 413-420, 2021 Feb.
Article in English | MEDLINE | ID: mdl-32602133

ABSTRACT

BACKGROUND AND AIM: Singapore is a multi-ethnic country that has undergone rapid development over the last few decades, with increasing influence of western culture, and faces an aging population. Previously, a varying prevalence of colonic diverticulosis (CD) was reported by a few small studies. This study aims to evaluate the prevalence of CD in Singapore and identify associations with common gastrointestinal symptoms and risk factors. METHODS: We reviewed retrospective data of 20 395 consecutive colonoscopies performed from 2006 to 2016 for presence of CD and indications of screening, diarrhea, constipation, and abdominal pain. RESULTS: The prevalence of CD progressively increased from 2006 to 2016 (14.9% vs 23.9%, adjusted trend < 0.001), with an overall prevalence of 19.6%. Patients with CD were older and had higher body mass index (BMI). CD was significantly more prevalent in Chinese compared with Malay and Indian races (20.5% vs 18.9% vs 15.5%, P < 0.05), and in male patients compared with female patients (21.5% vs 17.6%, P < 0.05). Right-sided CD was more common than left-sided or pan diverticulosis (16.2% vs 8.3% vs 4.8%, P < 0.05). Age [odds ratio (OR), 1.060; 95% confidence interval (CI), 1.052-1.068], BMI (OR, 1.051; 95% CI, 1.028-1.075), male gender (OR, 1.317; 95% CI, 1.084-1.600), and abdominal pain (OR, 1.409; 95% CI, 1.168-1.699) were positively associated, while constipation (OR, 0.566; 95% CI, 0.452-0.709) was negatively associated with CD. CONCLUSION: The prevalence of CD in Singapore has progressively increased over the last decade and is associated with older age, higher BMI, and abdominal pain. These findings may provide insights for healthcare resource planning in the region.


Subject(s)
Diverticulosis, Colonic/ethnology , Diverticulosis, Colonic/epidemiology , Abdominal Pain , Adult , Age Factors , Aged , Aged, 80 and over , Asian People , Body Mass Index , Colonoscopy , Constipation , Diarrhea , Diverticulosis, Colonic/diagnosis , Female , Humans , Male , Middle Aged , Prevalence , Retrospective Studies , Risk Factors , Singapore/epidemiology , Singapore/ethnology
2.
J Clin Endocrinol Metab ; 99(5): E931-5, 2014 May.
Article in English | MEDLINE | ID: mdl-24512492

ABSTRACT

CONTEXT: Mutations in the MC4R gene are the most common cause of monogenic obesity, and there are few studies on mutations in the promoter region. OBJECTIVE: The objective of the study was to sequence the promoter region of the MC4R gene in a cohort of obese children to identify rare variants. DESIGN, SETTING, AND PATIENTS: A region 1500 bp upstream of the MC4R gene was sequenced in 267 unrelated local children younger than 10 years, with body weight of at least 150% of ideal. An 891-bp upstream region of the MC4R gene was cloned into a luciferase reporter vector for reporter gene assays. INTERVENTIONS: There were no interventions. MAIN OUTCOME MEASURES: The basal transcriptional activity of the MC4R promoter was analyzed in human embryonic kidney 293 cells using reporter gene assays. RESULTS: Three rare variants were detected: c.-803A>G, c.-105C>G, and c.-216C>T. The novel c.-803A>G variant was found in a 9-year-old severely obese Malay boy. This variant was not found in his severely obese mother but was present in his overweight father, who had type 2 diabetes, and also in his normal-weight brother. The novel c.-105C>G variant was found in an obese 9-year-old Malay boy. The c.-216C>T variant was found in an obese Chinese girl with Down's syndrome. The transcriptional activities of the c.-803A>G and c.-105C>G promoters were significantly reduced compared with the wild type but not the c.-216C>T promoter. CONCLUSIONS: We have described, for the first time, two novel human MC4R gene promoter variants found in obese children that resulted in a decrease in basal transcriptional activity.


Subject(s)
Mutation , Obesity/genetics , Promoter Regions, Genetic , Receptor, Melanocortin, Type 4/genetics , Transcription, Genetic , Body Weight/genetics , Child , Female , Gene Frequency , Genotype , Humans , Male
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