22q11.2 microdeletion and increased risk for type 2 diabetes
| Autor: | Erik Boot, Andrea Tyrer, Lily Van, Tracy Heung, Christian Fenn, Anne S. Bassett, Eva W.C. Chow, Sarah L. Malecki, Marcos Sanches, Maria Corral, Susan R. George, Satya Dash |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Risk
Pediatrics medicine.medical_specialty endocrine system diseases Genotype Population Type 2 diabetes 01 natural sciences 03 medical and health sciences 0302 clinical medicine Diabetes mellitus DiGeorge syndrome medicine Genetics Molecular diagnostics 030212 general & internal medicine 0101 mathematics Risk factor Family history education lcsh:R5-920 education.field_of_study business.industry 010102 general mathematics Diabetes nutritional and metabolic diseases General Medicine medicine.disease Early diagnosis Obesity 3. Good health Hypoparathyroidism Structural variant lcsh:Medicine (General) business Research Paper |
| Zdroj: | EClinicalMedicine EClinicalMedicine, Vol 26, Iss, Pp 100528-(2020) |
| ISSN: | 2589-5370 |
| Popis: | Background: The 22q11.2 microdeletion is the pathogenic copy number variation (CNV) associated with 22q11.2 deletion syndrome (22q11.2DS, formerly known as DiGeorge syndrome). Familiar endocrinological manifestations include hypoparathyroidism and hypothyroidism, with recent elucidation of elevated risk for obesity in adults. In this study, we aimed to determine whether adults with 22q11.2DS have an increased risk of developing type 2 diabetes (T2D). Methods: We studied the effect of the 22q11.2 microdeletion on risk for T2D, defined by history and glycosylated hemoglobin (HbA1c), using weighted survey data from the adult Canadian population (based on n = 11,874) and from a clinical cohort of adults with 22q11.2DS (n = 314), aged 17–69 years. Binomial logistic regression models accounted for age, sex, non-European ethnicity, family history of T2D, obesity, and antipsychotic medication use. Findings: The 22q11.2 microdeletion was a significant independent risk factor for T2D (OR 2·44, 95% CI 1·39–4·31), accounting for other factors (p < 0·0001). All factors except sex were also significant within 22q11.2DS. The median age at diagnosis of T2D was significantly younger in 22q11.2DS than in the Canadian population sample (32 vs 50 years, p |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|