Searchable abstracts of presentations at key conferences in endocrinology

ea0026p687 | Diabetes complications | ECE2011

The frequency distribution of PPARγ2 Pro12Ala polymorphism in type 2 diabetic, cardiac patients and healthy subjects of Bangladeshi population

Emran Abdullah , Chowdhury Abulkalam Azad , Palmer Colin

The prevalence of diabetes is increasing worldwide. According to the recent World Health Organization (WHO) estimates, more than 180 million people worldwide have diabetes. This number is likely to be more than the double by 2030. It is estimated that the developing countries will bear the brunt of diabetes epidemics in the 21st century. It is well known now that increased rates of other chronic diseases, such as hypertension, obesity, cardiovascular diseases are highly associ...

ea0050p381 | Thyroid | SFEBES2017

Genetic variants modify susceptibility to AF in patients on thyroid hormone replacement therapy

Soto-Pedre Enrique , Siddiqui Moneeza , Doney Alex , Palmer Colin , Pearson Ewan , Leese Graham

Purpose: Hypothyroidism has been associated with atrial fibrillation (AF) in some studies. This study aimed to characterize thyroid related genetic variants that may change susceptibility to AF in patients on thyroid hormone replacement therapy (levothyroxine).Methods: A case-control study was done among patients of European Caucasian ethnicity from the Genetics of Diabetes Audit and Research Tayside (GoDARTS) recruited in Tayside (Scotland...

ea0050p381 | Thyroid | SFEBES2017

Genetic variants modify susceptibility to AF in patients on thyroid hormone replacement therapy

Soto-Pedre Enrique , Siddiqui Moneeza , Doney Alex , Palmer Colin , Pearson Ewan , Leese Graham

Purpose: Hypothyroidism has been associated with atrial fibrillation (AF) in some studies. This study aimed to characterize thyroid related genetic variants that may change susceptibility to AF in patients on thyroid hormone replacement therapy (levothyroxine).Methods: A case-control study was done among patients of European Caucasian ethnicity from the Genetics of Diabetes Audit and Research Tayside (GoDARTS) recruited in Tayside (Scotland...

ea0065p132 | Endocrine Neoplasia and Endocrine Consequences of Living with and Beyond Cancer | SFEBES2019

Risk stratification of variants of unknown significance (VUS) in monogenic endocrine tumour genes using population-level genetic data and computational analysis

Vennard Hannah , Maroteau Cyrielle , Berg Jonathan , Goudie David , Palmer Colin , Newey Paul

Background: Identifying individuals harbouring germline mutations in hereditary cancer genes provides opportunities for tumour surveillance programs, disease-specific treatment and cascade testing in family members but is reliant on accurate variant interpretation, which may be confounded by imprecise methods for ascribing pathogenicity. Where insufficient evidence supports a definitive classification, ‘variant of uncertain significance’ (VUS) status is applied, whic...