Endocrine Abstracts

Introduction: Melatonin is a crucial hormone for controlling sleep rhythms and disruption of its natural secretory rhythmicity is considered to be one of the causes of type 2 diabetes mellitus. The MTNR1B gene encodes the melatonin receptor. Polymorphism rs10830963 in this gene shows an association with fasting blood glucose and impaired glucose tolerance. Current studies suggest that carriers of the minor allele G have a slightly shifted cycle of melatonin secretion toward a ...

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary tumor syndrome. Common manifestations include more than 20 tumors of the parathyroid, pituitary and pancreatic glands and others non-endocrine tumors. The majority of patients carry a germline mutation in a tumor-suppressor gene MEN1, that encodes nuclear protein menin, ubiquitously expressed. So fare, more than 600 germline or somatic mutations have been reported over the...

The identification of genomic determinants responsible for common multifactorial diseases like type 2 diabetes mellitus (T2DM) is facilitated in large families from relatively genetically-isolated populations and can extend results from GWS based on a case–control cohort to detect rare alleles with strong effects. In order to search for sequence variants conferring risk of T2DM we previously conducted a genome-wide linkage study in 108 French–Canadian families from t...

Polycystic ovary syndrome (PCOS) is considered as a risk factor for diabetes type 2 (DM2), it is often associated with obesity, β-cell dysfunction or insulin resistance. Genetic factors underlying the association of PCOS with DM2 is unknown. Recent human genetic studies have revealed that transcription factor 7-like (TCF7L2) polymorphisms are associated with DM2 through modulation of β-cell function.The aim of this study was to test if <...

Background and aims: The fat mass and obesity associated gene (FTO) was identified as a gene with strong obesity related traits nevertheless the exact mechanism is still unknown. Our aim was to study the possible effects of FTO risk haplotype on anthropometric data and metabolic and hormonal parameters in lean women (to eliminate the influence of BMI) and to evaluate the effect of hormone contraception (HC).Materials and methods: The SNPs r...

Melanocortin-4 receptor (MC4R) gene is expressed in the brain and has been implicated in mediating most of the effects of melanocortin on food intake and energy expenditure. Common variants of MC4R gene are associated with fat mass, weight, risk of obesity and insulin resistance in several populations.We investigated if rs12970134 A/G is associated with obesity and studied its possible metabolic effects.Polymorphism was assesed by ...

KCNJ11 as well as UCP2 genes are involved via modulation of ATP concentration in pancreatic beta-cells in control of insulin secretion. The aim of study was to compare genotypic distribution of E23K (KCNJ11) and G-866A (UCP2) polymorphisms between diabetics, their offspring and controls and to study the possible association of these polymorphisms with biochemical and anthropometric parameters.The study entered 302 diabetics, 165 offspring, 241 controls. ...

Introduction: Graves’ disease (GD) is the most common cause of hyperthyroidism. The first-choice therapy is administration of thyreostatic drugs. However, approximately half of patients relapse within two years of discontinuation. It is then necessary to decide whether to re-initiate thyreostatic treatment, which may have serious side effects, or to choose a radical approach (TTE, radioiodine). Familial forms of GD indicate that the disease has a significant genetic compo...

Introduction: The SNP rs7578597 (Thr1187Ala) of THADA gene was identified in GWA studies as a novel type 2 diabetes risk locus. Nevertheless, subsequent studies of this SNP effect have been inconclusive. In some studies, rs7578597 has been associated with insulin secretion but no significant correlation with type 2 diabetes has been reported. Product of THADA gene is considered to be involved in apoptosis. Whether rs7578597 affects insulin secretion throught the apoptosis of p...

The polycystic ovary syndrome (PCOS) is associated with features of the insulin resistance syndrome and altered glucose homeostasis. Factors that play an important role in these processes are still emerging. Adipokines and pro-inflammatory cytokines may be involved in development of insulin resistance in PCOS. The purpose of this study was to determine if a relationship exists between adiponectin, resistin, leptin, interleukin (IL) 4, IL6, IL10, tumor necrosis factor α (T...