Population genetics of 10 short tandem repeat (STR) loci in a population sample of the ethnic group of Polish Tatars living in the Podlasie area (Northeastern Poland)

Laboratories worldwide are contributing to a large and growing database for different populations. This study provides a 10 STR database for a population sample of Polish Tatars living in the area of Podlasie for the use as a highly discriminatory system of genetic markers in the forensic community. The genotype frequency distributions showed no deviations from the Hardy-Weinberg equilibrium (HWE) except for D3S1358, FGA, D18S51 and D16S539, based on the Fisher Exact Test. Significant differences between the Polish Tatars and the native population of Podlasie were found in loci D3S1358, FGA, D2S1338, D21S11 and D19S433. The combined values of the Matching Probability and of the Power of Exclusion are 1 in 2.83 x 10-12 and 0.998, respectively

Estimation of age at death: examination of variation in cortical bone histology within the human clavicle

Background: Continuously, numerous human remains of unknown identity are revealed all over the world. One of the elements of the identification process may be a proper assessment of a histological section of bone fragments in order to answer questions related to the age of the subject. The aim of the study was to define an optimum bone fragment to obtain samples for histological examination. Materials and methods: The study material consisted of fragments of shafts of left clavicles taken from 39 males and 25 females (aged 22–86). The clavicles came from autopsies conducted between 2005 and 2011 at the Department of Forensic Medicine of Poznan and the Bialystok Medical University. The following were taken into account while estimating the age of the bone remains: clavicle length (CL), clavicle width (CW), clavicle thickness (CT), number of osteons in the field of vision (ON), number of osteons with the Haversian canal of more than 70 μm (HC > 70 μm), average diameter of the Haversian canals (avg. ØHC), area occupied by interstitial lamellae (ILA %), area occupied by osteons (OA %), area occupied by fragments-remnants of osteons remain as irregular arcs of lamellar fragments (OFA %), average thickness of outer circumferential lamellae (avg. OCL, μm), the relation of osteons with the Haversian canal of more than 70 μm in diameter to the total number of osteons (HC > 70 μm, %), at p < 0.00001. The age of the bone remains was estimated using univariate linear regression function. Results: It was determined that the best place for sampling the osseous tissue for the analysis was the shaft of the clavicle. It was stated than the number of osteons with a large diameter increased with age. The relation of osteons with the Haversian canal of more than 70 μm in diameter to the total number of osteons (HC > 70 μm, %). The level of statistical significant was p < 0.00001. All analysed microscopic features of the osseous tissue showed significant statistical changes occurring with age. Conclusions: The exact method for preparing osseous tissue for a microscopic analysis to determine the age of the remains is the preparation of histological sections, as the structure of the osseous tissue does not change while processing the material and the time of preparations is relatively short (7–8 days). The best predictors of age with the use of the function of univariate linear regression were: the diameter of Haversian canal, the number of osteons with Haversian canal of more than 70 μm in diameter, the relation of osteons with Haversian canal bigger than 70 μm in diameter to the total number of osteons as well as fragments of secondary osteons

Subsequent Event Risk in Individuals with Established Coronary Heart Disease:Design and Rationale of the GENIUS-CHD Consortium

BACKGROUND: The "GENetIcs of sUbSequent Coronary Heart Disease" (GENIUS-CHD) consortium was established to facilitate discovery and validation of genetic variants and biomarkers for risk of subsequent CHD events, in individuals with established CHD. METHODS: The consortium currently includes 57 studies from 18 countries, recruiting 185,614 participants with either acute coronary syndrome, stable CHD or a mixture of both at baseline. All studies collected biological samples and followed-up study participants prospectively for subsequent events. RESULTS: Enrollment into the individual studies took place between 1985 to present day with duration of follow up ranging from 9 months to 15 years. Within each study, participants with CHD are predominantly of self-reported European descent (38%-100%), mostly male (44%-91%) with mean ages at recruitment ranging from 40 to 75 years. Initial feasibility analyses, using a federated analysis approach, yielded expected associations between age (HR 1.15 95% CI 1.14-1.16) per 5-year increase, male sex (HR 1.17, 95% CI 1.13-1.21) and smoking (HR 1.43, 95% CI 1.35-1.51) with risk of subsequent CHD death or myocardial infarction, and differing associations with other individual and composite cardiovascular endpoints. CONCLUSIONS: GENIUS-CHD is a global collaboration seeking to elucidate genetic and non-genetic determinants of subsequent event risk in individuals with established CHD, in order to improve residual risk prediction and identify novel drug targets for secondary prevention. Initial analyses demonstrate the feasibility and reliability of a federated analysis approach. The consortium now plans to initiate and test novel hypotheses as well as supporting replication and validation analyses for other investigators

The rs2228145 polymorphism in the interleukin-6 receptor and its association with long-term prognosis after myocardial infarction in a pilot study

Introduction : Interleukin-6 (IL-6) is a cytokine with a complex function that is described as both pro- and anti-inflammatory. One factor that influences its function is the rs2228145 A/C single nucleotide polymorphism (SNP) of the IL-6 receptor (IL6R) gene. C allele carriers have a decreased inflammatory response and decreased prevalence of ischemic heart disease. The aim of the study was to investigate the association of the rs2228145 SNP of the IL6R gene with long-term total mortality in patients with ST-elevation myocardial infarction (STEMI) treated invasively. Material and methods : We analyzed the data of consecutive patients with ST elevation myocardial infarction (STEMI) treated with primary percutaneous coronary intervention (PCI). Genotyping was performed with the TaqMan method. The analyzed end-point was total long-term mortality (median: 2875 days). Results: The registry comprised 553 patients (mean age: 62.4 ±11.9 years; 25.6% females, n = 142; TIMI 3 obtained in 91.7% of patients, n = 507). No significant differences in baseline characteristics were found between the genotypes. During long-term follow-up 171 (30.9%) patients died. There was non-significantly higher mortality in the rs2228145 AA homozygotes compared to C allele carriers (OR = 1.34, 95% CI: 0.93–1.93, p = 0.1). Conclusions : The rs2228145 polymorphism of IL6R was not significantly associated with long-term mortality after STEMI. However, AA homozygotes (high-risk genotype for ischemic heart disease) showed a trend towards adverse outcome compared to C allele carriers. The observed trend is promising, but it requires independent replication studies