The Genetic Architecture of Diabetes in Pregnancy: Implications for Clinical Practice
| Autor: | Jeffrey W. Kleinberger, Kristin A. Maloney, Toni I. Pollin |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
endocrine system diseases Pregnancy in Diabetics 030209 endocrinology & metabolism Type 2 diabetes Bioinformatics Article 03 medical and health sciences 0302 clinical medicine Pregnancy Diabetes mellitus Glucokinase medicine Humans Hepatocyte Nuclear Factor 1-alpha Genetic testing Genetics Type 1 diabetes medicine.diagnostic_test business.industry Obstetrics and Gynecology medicine.disease Genetic architecture Gestational diabetes Diabetes Gestational 030104 developmental biology Diabetes Mellitus Type 1 Diabetes Mellitus Type 2 Hepatocyte Nuclear Factor 4 Pediatrics Perinatology and Child Health Etiology Female business |
| Popis: | The genetic architecture of diabetes mellitus in general and in pregnancy is complex, owing to the multiple types of diabetes that comprise both complex/polygenic forms and monogenic (largely caused by a mutation in a single gene) forms such as maturity-onset diabetes of the young (MODY). Type 1 diabetes (T1D) and type 2 diabetes (T2D) have complex genetic etiologies, with over 40 and 90 genes/loci, respectively, implicated that interact with environmental/lifestyle factors. The genetic etiology of gestational diabetes mellitus has largely been found to overlap that of T2D. Genetic testing for complex forms of diabetes is not currently useful clinically, but genetic testing for monogenic forms, particularly MODY, has important utility for determining treatment, managing risk in family members, and pregnancy management. In particular, diagnosing MODY2, caused by GCK mutations, indicates that insulin should not be used, including during pregnancy, with the possible exception of an unaffected pregnancy during the third trimester to prevent macrosomia. A relatively simple method for identifying women with MODY2 has been piloted. MODY1, caused by HNF4A mutations, can paradoxically cause neonatal hyperinsulinemic hypoglycemia and macrosomia, indicating that detecting these cases is also clinically important. Diagnosing all MODY types provides opportunities for diagnosing other family members. |
| Databáze: | OpenAIRE |
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