Retinopathy and Nephropathy in Type 1 Diabetic Patients – Association with Polymorphysms of Vitamin D-Receptor, Tnf, Neuro-D and Il-1 Receptor 1 Genes

Retinopathy and nephropathy are common late type 1 diabetes mellitus (T1D) complications. In this study we investigated whether individual differences in 4 candidate genes significantly contribute to development and progression of late complications in T1D patients. We examined 121 patients for the presence of diabetic retinopathy and nephropathy. We genotyped variants in vitamin D receptor (VDR) and tumor necrosis factor (TNF) genes in 47 patients and in NeuroD1 and interleukin-1 receptor 1 (IL1R1) genes in 35 patients. Diabetic retinopathy had 66 (55%) patients after a median of 13.0 years after diagnosis. Diabetic nephropathy had 14 (11.66%) patients, all of whom had already developed retinopathy. A significant correlation between the degree of diabetic retinopathy and mean microalbuminuria (MA) value has been found (c2=54.18, p<0.001). After correcting for duration of disease, only the VDR gene BsmI genotypes showed significant association with cumulative prevalence of diabetic retinopathy, while no investigated genetic polymorphysms could reliably predict diabetic nephropathy

Thyroid hormone levels are associated with metabolic components:A cross-sectional study

Aim: To analyze the association of thyroid function and hormone levels with metabolic syndrome (MetS) and its components. Methods: This cross-sectional population-based study involved 2183 Croatian individuals with no history of thyroid disease, hypertension, diabetes, and hyperlipidemia. MetS was diagnosed according to the National Cholesterol Education Program’s Adult Treatment Panel III criteria. Results: We found no association between thyroid function groups and the prevalence of MetS and its components. Clinically hypothyroid participants showed significantly higher triceps skinfold measurements than subclinically hypothyroid and euthyroid participants. Furthermore, clinically hypothyroid participants had higher abdominal skinfold thickness than subclinically hypothyroid participants. Otherwise, suprailiac and abdominal skinfold measurements were higher in the subclinically and clinically hyperthyroid group of participants compared with euthyroid and subclinically hypothyroid participants. A strong positive association of thyroid-stimulating hormone (TSH) and strong negative association of free triiodothyronine (fT3) and free thyroxine (fT4) levels with HOMA-IR and cholesterol levels were found. Furthermore, the fT4 level also showed a strong negative association with HDL and triceps skinfold thickness. Conclusions: This study supports the standing that TSH, fT3, and fT4 levels are important variables to determine the association of thyroid function with MetS

Ethical aspects of human biobanks: a systematic review

Aim To systematically assess the existing literature on ethical aspects of human biobanks. Method We searched the Web of Science and PubMed databases to find studies addressing ethical problems in biobanks with no limits set (study design, study population, time period, or language of publication). All identified articles published until November 2010 were included. We analyzed the type of published articles, journals publishing them, involvement of countries/institutions, year of publication, and citations received, and qualitatively assessed every article in order to identify ethical issues addressed by the majority of published research on human biobanking. Results Hundred and fifty four studies satisfied our review criteria. The studies mainly came from highly developed countries and were all published in the last two decades, with over half of them published in 2009 or 2010. They most commonly discussed the informed consent, privacy and identifiability, return of results to participants, importance of public trust, involvement of children, commercialization, the role of ethics boards, international data exchange, ownership of samples, and benefit sharing. Conclusions The focus on ethical aspects is strongly present through the whole biobanking research field. Although there is a consensus on the old and most typical ethical issues, with further development of the field and increasingly complex structure of human biobanks, these issues will likely continue to arise and accumulate, hence requiring constant re-appraisal and continuing discussion

Genome-wide meta-analysis identifies novel loci associated with parathyroid hormone level

Abstract Background Parathyroid hormone (PTH) is one of the principal regulators of calcium homeostasis. Although serum PTH level is mostly accounted by genetic factors, genetic background underlying PTH level is insufficiently known. Therefore, the aim of this study was to identify novel genetic variants associated with PTH levels. Methods We performed GWAS meta-analysis within two genetically isolated Croatian populations followed by replication analysis in a Croatian mainland population and we also combined results across all three analyzed populations. The analyses included 2596 individuals. A total of 7,411,206 variants, imputed using the 1000 Genomes reference panel, were analysed for the association. In addition, a sex-specific GWAS meta-analyses were performed. Results Polymorphisms with the lowest P-values were located on chromosome 4 approximately 84 kb of the 5′ of RASGEF1B gene. The most significant SNP was rs11099476 (P = 1.15 × 10−8). Sex-specific analysis identified genome-wide significant association of the variant rs77178854, located within DPP10 gene in females only (P = 2.21 × 10− 9). There were no genome-wide significant findings in the meta-analysis of males. Conclusions We identified two biologically plausible novel loci associated with PTH levels, providing us with further insights into the genetics of this complex trait

Dietary Factors Associated with Plasma Thyroid Peroxidase and Thyroglobulin Antibodies

The knowledge about dietary habits and their influence in the development of autoimmune thyroid disease is insufficient. The aim of this study was to analyse the association of dietary factors and plasma thyroid peroxidase antibodies (TPO-Ab) and/or thyroglobulin antibodies (Tg-Ab). The study enrolled 1887 participants originating from the South Croatia. Participants with elevated plasma TPO-Ab and/or Tg-Ab were defined as cases (n = 462) and those with TPO-Ab and/or Tg-Ab within referent values were defined as controls (n = 1425). Dietary intake was evaluated according to a food frequency questionnaire containing 58 food items. Principal component analysis was used to group food items into dietary groups. We used logistic regression analysis to examine dietary groups associated with positive plasma TPO-Ab and/or Tg-Ab. The results indicate that the dietary group with frequent consumption of animal fats and butter is associated with positive plasma TPO-Ab and/or Tg-Ab (p = 0.01). The dietary group with frequent consumption of vegetables as well as the dietary group with high consumption of dried fruit, nuts, and muesli are associated with negative findings of TPO-Ab and/or Tg-Ab (p = 0.048 and p = 0.02, respectively). We showed that the anti-inflammatory dietary groups are associated with the negative findings of plasma TPO-Ab and/or Tg-Ab