Are endocannabinoid type 1 receptor gene (CNR1) polymorphisms associated with obesity and metabolic syndrome in postmenopausal Polish women?

Objective: The aim of this study was to determine whether genetic variation at the cannabinoid receptor-1 (CNR1) locus could have an effect on adiposity, fat distribution and obesity-related metabolic disorders in Polish postmenopausal women.Design and Subjects: The A3813G, G1422A and A4895G single nucleotide polymorphisms of CNR1 were genotyped in 348 randomly selected postmenopausal women aged 50-60 years recruited from the Wroclaw city population. Measurements: CNR1 genotypes, anthropometric measures (BMI, WC, body fat distribution by DEXA) and metabolic parameters (glucose, lipid profile, insulin FIRI) were determined.Results: The 3813G allele was not significantly associated with higher body mass, BMI, WC, total fat, or fat percentage, but was associated with higher android fat deposit (2971.78 ± 1655.08 ± 2472.64 ± 1300.53, p = 0.007) and percentage of android fat (37.59 ± 8.45 vs. 35.66 ± 7.63, p = 0.062). The 1422A allele was associated with higher total fat (31587.72 ± 9161.28 g vs. 26078.26 ± 7552.14 g, p = 0.019), fat percentage (40.51 ± 5.66% vs. 37.51 ± 4.99%, p = 0.052), and percentage of android fat (40.86 ± 9.73% vs. 36.09 ± 7.70%, p = 0.047). No associations were observed for the A4895G variant.Conclusions: There is an association of variants of CNR1 with obesity-related phenotypes in Polish postmenopausal women. As CB1 is a drug target for obesity, pharmacogenetic receptor gene analysis of obesity treatment by endocannabinoid blockade may be of interest to identify the best responders

Polimorfizm PPAR-γ2 Pro12Ala w populacji otyłych i nieotyłych mężczyzn z populacji Wrocławia

Introduction: The aim of this study was to examine the association of Pro12Ala PPAR&#947;2 polymorphism with anthropometric and biochemical parameters defining the risk for the development of metabolic syndrome in a healthy population of men Material and methods: The study group consisted of 176 healthy men, aged 25&#8211;65 years (average 54.16 years). Polymorphisms of the PPAR-g gene (Pro12Ala, Ala12Ala, Pro12Pro) were explored using the PCR-RFLP method. Plasma glucose, insulin, total cholesterol, LDL, HDL and TG were measured using commercially available kits. Results: The genotypic distribution of the Pro12Ala polymorphism was as follows: Pro/Ala 69.8% (n = 123), Ala/Ala 28.4% (n = 50) and Pro/Pro 1.8% (n = 3). The Pro12Ala and Ala12Ala subjects did not differ in any of the measured variables. The non-obese (BMI < 30 kg/m2, n = 117) and obese subpopulations (BMI > 30 kg/m2, n = 56) did not significantly differ in the distribution of the genotypes. In the nonobese subpopulation, the homozygous Ala12 carriers (n = 38, 32.4%) had higher systolic blood pressure, plasma triglycerides, insulin levels and HOMA-IR. Conclusions: We conclude that despite the high frequency of the Ala allele at the PPAR-&#947;2 gene in our population of Polish men, the Ala12 allele does not appear to improve insulin sensitivity or have an influence on the occurrence of obesity. It remains to be explained by larger studies if this polymorphism carries any risk of the development of metabolic abnormalities in non-obese men.Wstęp: Celem pracy była ocena związku miedzy polimorfizmem Pro12Ala PPAR-&#947;2 a biochemicznymi i antropometrycznymi czynnikami ryzyka zespołu metabolicznego w populacji zdrowych mężczyzn z Wrocławia. Materiał i metody: Grupa badana składała się ze 176 zdrowych mężczyzn, w wieku 25&#8211;65 lat (średnio 54,16 roku). Polimorfizm genu PPAR-&#947; (Pro12Ala, Ala12Ala, Pro12Pro) oceniano za pomocą metody PCR-RFLP. Stężenie glukozy, insuliny, cholesterolu całkowitego, cholesterolu frakcji LDL, frakcji HDL, triglicerydów (TG) w osoczu było oceniane przy użyciu standardowych zestawów. Wyniki: Częstość poszczególnych polimorfizmów była następująca: Pro/Ala &#8212; 69,8% (n = 123), Ala/Ala - 28,4% (n = 50), Pro/Pro - 1,8% (n = 3). Pacjenci z polimorfizmem Pro12Ala i Ala12Ala nie różnili się pod względem wartości wszystkich ocenianych parametrów. Częstości genotypów w subpopulacji mężczyzn nieotyłych (BMI 30 kg/m2, n = 56) nie różniły się istotnie statystycznie. W subpopulacji mężczyzn nieotyłych homozygoty Ala12 (n = 38, 32,4%) charakteryzowały się wyższym ciśnieniem skurczowym krwi, wyższym stężeniem triglicerydów w osoczu, wyższym stężeniem insuliny oraz wyższą wartością HOMA-IR. Wnioski: Wyniki pracy pozwalają na wyciągnięcie wniosku, że pomimo wysokiej częstości allelu Ala genu PPAR-&#947;2 w ocenianej populacji mężczyzn z Wrocławia, allel Ala12 nie wpływa na poprawę insulinowrażliwości oraz na występowanie otyłości. Konieczne jest potwierdzenie obserwacji, że polimorfizm ten sprzyja wystąpieniu zaburzeń metabolicznych u nieotyłych mężczyzn

The scintigraphic diagnosis of cardiac amyloidosis. An expert opinion endorsed by the Section of Nuclear Medicine of the Polish Cardiac Society and the Polish Nuclear Medicine Society

Amyloid transthyretin cardiomyopathy is a progressive disease that confers significant mortality. While it is relatively rare, the frequency of diagnoses has risen with the increased contribution of novel diagnostic approach over the last decade. Traditionally tissue biopsy was considered to be a gold standard for amyloidosis diagnosis. However, there are significant limitations in the wide application of this approach. A noninvasive imaging-based diagnostic algorithm has been substantially developed in recent years. Establishing radionuclide imaging standards may translate into a further enhancement of disease detection and improving prognosis in the group of patients. Therefore we present in the following document current evidence on the scintigraphic diagnosis of cardiac transthyretin amyloidosis. Moreover, we present standardized protocol for the acquisition and interpretation criteria in the scintigraphic evaluation of cardiac amyloidosis