Vitamin D receptor gene polymorphisms and prostate cancer.

Prostate cancer (PC) is the most common cancer among men worldwide and its pathogenesis is complex. The development of PC depends on family and environmental factors. Vitamin D can be associated with both of these factors. Its reduced serum concentration has been reported in a number of tumors. However, in the case of PC, the study results are conflicting. Polymorphism of VDR gene may also be involved in the development of this cancer. The aim of the study was to compare the frequency of selected polymorphisms in patients with PC and in men without this disease. Seventy-two Caucasian males aged 35-75 years with histologically proven PC (T1/T2) were enrolled in the study group. Seventy-two random age-matched Caucasian out-patient subjects formed the control group. VDR (FokI, BsmI and TaqI) gene polymorphism (rs2228570, rs1544410, rs731236) was determined by TaqMan® SNP Genotyping. The Hardy-Weinberg Equilibrium (HWE) - p> 0.05 was in all studied polymorphisms. Deviations from the HWE were not found. There were no differences between the study group and the control group. No difference was found when the groups were compared in terms of age or the Gleason score.

Molecular background and clinical characteristics of HNF1A MODY in a Polish population.

PURPOSE: Knowing the molecular background of monogenic diabetes in affected individuals influences the clinical practice. Mutations in the HNF1A gene are the most frequent cause of MODY. The aim of the present study was to identify the genetic and clinical characteristics of HNF1A MODY in a Polish population, and the prevalence of diabetic complications and renal malformations. METHODS: We identified 47 families with the early-onset, autosomal-dominant form of diabetes that met the criteria of MODY. Mutation screening involved direct sequencing of the HNF1A gene. Patients' characteristics included clinical data, anthropometric measurements and biochemical parameters. The search for renal malformations involved ultrasound examination of all HNF1A mutation carriers. RESULTS: We identified 13 HNF1A MODY families and examined 56 mutation carriers, including 46 diabetic patients. The average HbA(1c) level among the diabetics was 7.5%. We identified diabetic retinopathy in 47.7% of the MODY patients, while diabetic nephropathy was present in 25%. In five HNF1A mutation carriers from three families, renal developmental malformations were identified, including one functioning kidney in two (3.6%) of them. CONCLUSION: This first systematic search for HNF1A mutations in a Polish population revealed that they are a frequent cause of MODY. In this population, HNF1A mutation carriers were characterized by a high prevalence of diabetic complications. In addition, renal developmental abnormalities were found in some mutation carriers.

Pancreatic exocrine insufficiency is not common in HNF-1alpha MODY.

AIMS: Exocrine pancreatic insufficiency has been described in Type 1 and Type 2 diabetes. The hepatocyte nuclear factor (HNF)-1alpha gene associated with maturity-onset diabetes of the young (MODY3) is expressed in several organs, including the exocrine pancreas. The aim of this study was to determine the prevalence of exocrine pancreas dysfunction in HNF-1alpha MODY patients. METHODS: Thirty-one diabetic HNF-1alpha MODY patients (mean age 37.2 +/- 14.6 years) and 35 healthy control subjects (39.1 +/- 13.9 years) participated. In addition, 25 Type 1 diabetic (T1DM) subjects were also examined (mean age 30.6 +/- 10.1 years). Exocrine pancreas function was assessed by measurement of stool elastase 1 (E1) activity. All diabetic patients and control subjects completed a gastrointestinal (GI) symptoms questionnaire. RESULTS: In all but two individuals, stool E1 levels were normal (> 200 microg/g). The only case of severely impaired pancreas exocrine function (E1 = 47.5 microg/g) was observed in the MODY3 group. The mean stool E1 elastase level in the HNF-1alpha MODY group was significantly lower than in the control subjects (401.0 +/- 118.4 vs. 482.7 +/- 151.1 microg/g, P = 0.001). Similarly, E1 levels in T1DM were lower than in control subjects (344.8 +/- 132.1 microg/g, P = 0.001); one patient with a moderate enzyme decrease was identified in this group. In addition, more frequent GI complaints were reported by HNF-1alpha MODY patients when compared with control subjects and also with T1DM patients. CONCLUSION: Pancreatic exocrine insufficiency is not common in HNF-1alpha MODY diabetic patients, although their stool E1 levels are lower than in healthy control subjects.