European Population Samples Research Articles

The mendelian randomized study revealed the association of prostatitis with prostate cancer risk

In recent observational studies, a potential link between prostatitis and prostate cancer (PCa) has been hinted at, yet the causality remains ambiguous. In our endeavor to scrutinize the conceivable causal nexus between prostatitis and PCa, we embarked upon a Mendelian randomization (MR) study. MR circumvents arbitrary groupings by employing genetic variations that have a strong association with the exposure as instrumental variables to infer causal relationships between exposures and outcomes. The etiology of PCa remains elusive. Given that prostatitis and prostate cancer occupy the same anatomical region, MR can more effectively delineate their relationship by mitigating confounding variables. This method can indirectly elucidate disease correlations, thereby contributing to cancer prevention strategies. FinnGen Consortium data were used for the prostatitis genome-wide association study (GWAS), including 74,658 participants. UK biobank baseline data (ncase = 3436, ncontrol = 459574), European Bioinformatics Institute Database (ncase = 79148, ncontrol = 61106), and IEU openGWAS database (ncase = 79148, ncontrol = 61106) were used for PCa outcomes, mostly for European population samples. Data from the GWSAs for prostatitis were compared with data from the three GWASs for PCa, respectively, in an analysis of an MR. Utilizing the inverse variance weighting (IVW) methodology as our primary analytical framework, we delved into a meticulous exploration of the conceivable causal association between prostatitis and PCa. Furthermore, we deployed supplementary methodologies, including Maximum Likelihood, MR-Egger, weighted median, and MR-PRESSO, to thoroughly assess and scrutinize the causality aspect comprehensively. Cochran’s Q statistic is employed as a metric to quantify the heterogeneity inherent in instrumental variables. The inverse variance weighted analysis revealed no discernible effect of prostatitis on PCa in the three PCa GWAS databases (odds ratio [OR]: 1.001, 95% Confidence Interval [CI]: 0.999–1.002, p = 0.28), (OR: 1.015, 95% CI: 0.981–1.050, p = 0.40), (OR: 1.015, 95% CI: 0.981–1.050, p = 0.40). Similarly, employing MR-Egger did not yield substantial evidence (OR: 0.999, 95% CI: 0.999–1.002, p = 0.89), (OR: 1.103, 95% CI: 1.006–1.209, p = 0.07), (OR: 1.103, 95% CI: 1.006–1.209, p = 0.07). The weighted median analysis also failed to provide convincing support for the impact of prostatitis on the incidence of PCa (OR: 1.001, 95% CI: 1.000-1.002, p = 0.064), (OR: 0.989, 95% CI: 0.946–1.034, p = 0.64), (OR: 0.989, 95% CI: 0.945–1.036, p = 0.65). The results of the MR showed no causality from prostatitis to PCa.

Causal associations of hypothyroidism with frozen shoulder: a two-sample bidirectional Mendelian randomization study

BackgroundMany studies have investigated the association between hypothyroidism and frozen shoulder, but their findings have been inconsistent. Furthermore, earlier research has been primarily observational, which may introduce bias and does not establish a cause-and-effect relationship. To ascertain the causal association, we performed a two-sample bidirectional Mendelian randomization (MR) analysis.MethodsWe obtained data on “Hypothyroidism” and “Frozen Shoulder” from Summary-level Genome-Wide Association Studies (GWAS) datasets that have been published. The information came from European population samples. The primary analysis utilized the inverse-variance weighted (IVW) method. Additionally, a sensitivity analysis was conducted to assess the robustness of the results.ResultsWe ultimately chose 39 SNPs as IVs for the final analysis. The results of the two MR methods we utilized in the investigation indicated that a possible causal relationship between hypothyroidism and frozen shoulder. The most significant analytical outcome demonstrated an odds ratio (OR) of 1.0577 (95% Confidence Interval (CI):1.0057–1.1123), P = 0.029, using the IVW approach. Furthermore, using the MR Egger method as a supplementary analytical outcome showed an OR of 1.1608 (95% CI:1.0318–1.3060), P = 0.017. Furthermore, the results of our sensitivity analysis indicate that there is no heterogeneity or pleiotropy in our MR analysis. In the reverse Mendelian analysis, no causal relationship was found between frozen shoulders and hypothyroidism.ConclusionOur MR analysis suggests that there may be a causal relationship between hypothyroidism and frozen shoulder.

Validation of genetic risk scores for coronary artery disease, developed on European population samples, in Russian population

Aim. To evaluate the information content of genetic risk scores (GRSs) for coronary artery disease (CAD), previously developed on European populations, in representatives of the Russian population.Material and methods. The work involved 1685 people from the ESSE-Ivanovo epidemiological study. CAD was verified in 3,1% of individuals. The coronary composite endpoint was assessed annually during 8-year follow-up. Next generation sequencing was performed using a targeted panel. Logistic regression analysis and area under the ROC curve (AUC) were used. Age, sex, and smoking status were taken into account in the multivariate model.Results. Of the 16 GRSs included in the analysis, only 2 GRSs demonstrated significance in the univariate analysis of association with CAD (highest AUC — 0,577). In a multivariate model, with an increase by 1 standard deviation (SD) for the 6 studied GRSs, a significant association with CAD was obtained — the odds ratio varied in the range of 1,31-1,47. The two GRSs demonstrated significant differences in the incidence of CAD between the groups corresponding to the upper and lower quintiles. Forty-five endpoints were registered. The risk ratio for the end point with an increase in GRS by 1 SD, taking into account cofactors, exceeded statistical significance for the 9 analyzed GRS and was in the range of 1,36-1,54.Conclusion. For the first time in Russia, 16 CAD GRSs, previously developed on European samples, was validated. The results were reproduced only for a few of the studied CAD SGRs.

Value of blood lipid in predicting graft dysfunction after organ and tissue transplantation: A study of Mendelian randomization

BackgroundWhile immunosuppressive regimens have improved outcomes in solid organ transplantation, non-immune factors have also been identified as contributors to graft prognosis. Age, gender, hormones, heredity, and other diseases have been recognized to affect organ transplantation. However, the causal relationship between blood lipids and graft dysfunction remains unverified in human clinical investigations. In this study, we employed two-sample Mendelian randomization (MR) to examine the causality between different types of blood lipids and graft dysfunction following organ and tissue transplantation. MethodsWe conducted a two-sample MR study using available genome-wide association summary data from the online database MRBASE (http://app.mrbase.org/), which encompasses over 11 billion associations between genetic factors and health-related outcomes, enabling researchers to explore various potential determinants of poor health. The exposure factors included four types of blood lipids: high-density lipoprotein, low-density lipoprotein, cholesterol, and triglycerides. For each exposure factor, three databases were selected for analysis. The outcome factor was the failure and rejection of transplanted organs and tissues. All databases consisted of European population samples, without specific subgroups. The related studies were conducted between 2016 and 2022, and the "TwoSampleMR" R package was employed for variant selection. ResultsA total of 13 sample groups were collected and analyzed. The results revealed a causal association between blood lipids and graft dysfunction following organ and tissue transplantation. Specifically, the two-sample MR analysis confirmed that low-density lipoprotein and cholesterol levels were significant risk factors for increased graft dysfunction risk after transplantation. Moreover, high-density lipoprotein potentially reduced the risk of allograft dysfunction, while triglycerides possibly elevated the risk. ConclusionsOur recent study provides the initial confirmation that blood lipids may initiate causal pathological processes leading to graft dysfunction after organ and tissue transplantation.

1439-P: Smoking Prevalence in Diabetes Population in Europe

Smoking cessation is part of holistic management of type 2 diabetes but prevalence of smoking and smoking cessation in diabetes population is not well known. We aimed to determine prevalence of smokers and ex-smokers and associated factors in older diabetes population in Europe. A sample of European population ≥50 years of age (46,327 participants, 14.90 %/6,903 with diabetes: 57.36 % female, average age 70.85+-9.31, BMI 27.16+-4.76) from 27 countries from a wave 8 (2019/2020) of the Survey of Health, Ageing and Retirement in Europe was used. The data was collected from computer-assisted personal interviews using one common questionnaire, translated into national languages. Diagnosis of diabetes and smoking status were based on self-report of participants. X2 test and multinomial logistic regression models were used for statistical analyses. Prevalence of smokers in Europe was 13.93/12.15/14.24 % (whole/diabetes/nondiabetes group). Prevalence of ex-smokers was 27.06/29.87/26.57 % and prevalence of never smokers 59.01/57.97/59.19 %. Among countries diabetes populations, highest prevalence of ex-smokers (57.62 %) with low prevalence of smokers (9.52 %) was seen in the Netherlands. Highest prevalence of never smokers (84.21 %) was in Latvia, with lowest ex-smoker and low smoker prevalence (7.89 % for each). Highest prevalence of current smokers (17.94 %) with below average ex-smoker prevalence (26.46 %) was seen in Austria. Obesity was associated with higher ex-smoker prevalence, whilst normal weight, overweight, lower education, age 50-74, living without a partner and being male were associated with higher smoking prevalence. Lower ex-smoker prevalence was associated with ≥ 80 years of age and being female. Higher prevalence of ex-smokers in diabetes group might reflect diabetes diagnosis being an impulse for smoking cessation, nevertheless smoking prevalence remains high among older diabetes population in Europe. Smoking cessation interventions should be addressed repeatedly over the course of diabetes. Disclosure J. Malinovska: Employee; Boehringer Ingelheim s.r.o. M. Lustigova: None. J. Urbanova: None. P. Krollová: Advisory Panel; Boehringer-Ingelheim. Other Relationship; Sanofi. J. Michalec: None. J. Broz: None. Funding European Commission, DG RTD through FP5 (QLK6-CT-2001-00360), FP6 (SHARE-I3: RII-CT-2006-062193, COMPARE: CIT5-CT-2005-028857, SHARELIFE: CIT4-CT-2006-028812), FP7 (SHARE-PREP: GA N°211909, SHARE-LEAP: GA N°227822, SHARE M4: GA N°261982, DASISH: GA N°283646); Horizon 2020 (SHARE-DEV3: GA N°676536, SHARE-COHESION: GA N°870628, SERISS: GA N°654221, SSHOC: GA N°823782, SHARE-COVID19: GA N°101015924); DG Employment, Social Affairs & Inclusion (VS 2015/0195, VS 2016/0135, VS 2018/0285, VS 2019/0332, VS 2020/0313); German Ministry of Education and Research; Max Planck Society for the Advancement of Science; National Institute on Aging (U01AG09740-13S2, P01AG005842, P01AG08291, P30AG12815, R21AG025169, Y1AG455301, IAGBSR0611, OGHA04064, HHSN271201300071C, RAG052527A)

Type 2 diabetes and the risk of synovitis-tenosynovitis: a two-sample Mendelian randomization study.

It has been shown that people with type 2 diabetes have a higher risk of synovitis and tenosynovitis, but previous studies were mainly observational, which may be biased and does not allow for a cause-and-effect relationship. Therefore, we conducted a two-sample Mendelian randomization (MR) study to investigate the causal relationship. We obtained data on "type 2 diabetes" and "synovitis, tenosynovitis" from published large-scale genome-wide association studies (GWAS). The data were obtained from the FinnGen consortium and UK Biobank, both from European population samples. We used three methods to perform a two-sample MR analysis and also performed sensitivity analysis. The results of all three MR methods we used for the analysis illustrated that T2DM increases the risk factor for the development of synovitis and tenosynovitis. Specifically, for the IVW method as the primary analysis outcome, OR = 1.0015 (95% CI, 1.0005 to 1.0026), P = 0.0047; for the MR Egger method as the supplementary analysis outcome, OR = 1.0032 (95% CI, 1.0007 to 1.0056), P = 0.0161; for the weighted median method, OR = 1.0022 (95% CI, 1.0008 to 1.0037), p = 0.0018. In addition, the results of our sensitivity analysis suggest the absence of heterogeneity and pleiotropy in our MR analysis. In conclusion, the results of our MR analysis suggest that T2DM is an independent risk factor for increased synovitis and tenosynovitis.

Prevalence of Genetic Diamine Oxidase (DAO) Deficiency in Female Patients with Fibromyalgia in Spain

Diamine oxidase (DAO) is an enzyme that metabolizes intestinal histamine. Single nucleotide polymorphisms (SNPs) of the Amine Oxidase Copper Containing 1 (AOC1) gene can lead to low enzymatic activity or functionality in histamine metabolism. This study aimed to determine the prevalence of DAO deficiency for four variants of the AOC1 gene, p.Thr16Met (rs10156191), p.Ser332Phe (rs1049742), p.His664Asp (rs1049793), and c.691G > T (rs2052129), in 98 Spanish women with fibromyalgia between the ages of 33 and 60 years, and compare the distribution of allelic and genotypic frequencies with those of European population samples in Hardy-Weinberg equilibrium extracted from the Allele Frequency Aggregator (ALFA) database. The patients' DNA was extracted, and analyzed using SNPE Multiplex (Single Nucleotide Primer Extension). The prevalence of genetic DAO deficiency was 74.5% based on the four variants of the AOC1 gene. SNP deficits were found at frequencies of 53.1% for p.Thr16Met, 49% for c.691G > T, 48% for p.His664Asp, and 19.4% for p.Ser332Phe. The allele and genotypic frequencies of the women with fibromyalgia did not differ from the European population. Variants of the AOC1 gene that are associated with genetic DAO deficiency could serve as a disruptive biomarker in patients with fibromyalgia. This study was registered in ClinicalTrials.gov Identifier: NCT05389761.

Palatal surface development from 6 years of age to early adulthood: data modelling using 3D geometric morphometrics.

The study followed the modelling of postnatal growth of a healthy palate of the Central European (Czech) population sample based on transverse data on sex and age from 6 to 19 years. Digitised 3D models of 212 healthy palatal surfaces were evaluated using 3D geometric morphometrics and superimpositions. The individuals were grouped based on age (preschool, younger and older school age, younger and older adolescents, young adults) and sex (♂ n = 101, ♀ n = 111). Female palatal development was non-linear and was interrupted between the 10-12 years and then proceeded intensively until the age of 15 when it ceased. In contrast, male-modelled growth was consistent throughout the follow-up and continued linearly until at least 19 years of age. The palate did not widen further with increasing age, and primarily palatal vaulting and heightening were found. The characteristics and distribution of areas with extensive modelled growth changes were comparable in females and males, as confirmed by the location of principal components (PC1 and PC2) within modal space and growth trajectories. The extent of sexual dimorphism increased from 15 years of age due to pubertal spurt combined with earlier completion of palatal development in females. The study showed modelled healthy palatal development from 6 years of age to early adulthood, which might be utilised as reference standards for the Central European population sample. The comparison of normal reference subjects with patients with cranio-maxillo-facial dysmorphologies represents the first step in diagnosing and establishing effective therapy.

Self-rated health in individuals with and without disease is associated with multiple biomarkers representing multiple biological domains

Self-rated health (SRH) is one of the most frequently used indicators in health and social research. Its robust association with mortality in very different populations implies that it is a comprehensive measure of health status and may even reflect the condition of the human organism beyond clinical diagnoses. Yet the biological basis of SRH is poorly understood. We used data from three independent European population samples (N approx. 15,000) to investigate the associations of SRH with 150 biomolecules in blood or urine (biomarkers). Altogether 57 biomarkers representing different organ systems were associated with SRH. In almost half of the cases the association was independent of disease and physical functioning. Biomarkers weakened but did not remove the association between SRH and mortality. We propose three potential pathways through which biomarkers may be incorporated into an individual’s subjective health assessment, including (1) their role in clinical diseases; (2) their association with health-related lifestyles; and (3) their potential to stimulate physical sensations through interoceptive mechanisms. Our findings indicate that SRH has a solid biological basis and it is a valid but non-specific indicator of the biological condition of the human organism.

DT56a in treatment of climacteric syndrome in the Central European population sample.

The aim of this study was to assess the possibility of using the DT56a for the therapy of acute climacteric syndrome in women in Slovakia and the Czech Republic. Prospective interventional unblinded study. A sample of 453 women with symptoms of acute climacteric syndrome took 644 mg of soybeans´ phyotestrogenes DT56a in the period of 4 weeks. In course of the therapy, the total number of hot flushes decreased by 48 %, and the intensity decreased by 35 % (p < 0.01). In 85 % of women, the quantity or intensity of hot flushes decreased. Sleep quality increased in 65 % of women, headaches improved or significantly improved in 51 % of women, muscle aches and joint pains decreased by 40 %. Life quality improved in 72 % of women. DT56a is a possible alternative for the treatment of acute climacteric syndrome. In the Central European population, the efficacy of a daily dose of 644 mg corresponds with the effects observed in the Mediterranean population (Tab. 2, Fig. 3, Ref. 21). Text in PDF www.elis.skKEY WORDS: DT56a, climacteric syndrome, menopause, non-hormonal treatment.

Normative data for Verbal Fluency and Object Naming Tests in a sample of European Portuguese adult population

The purpose of the present study was to calculate the construct validity, internal consistency and normative data of the Phonological Verbal Fluency Test (letters F, A, S, and M), Semantic Verbal Fluency Test (Animals, Fruits and Professions categories), and Boston Naming Test (short and standard version), and to generate normative data for these tests after adjusting for age, education, and sex. A sample of 293 European Portuguese adults participated in the study. Results showed adequate construct validity and internal consistency for all of the tests and the final multiple regression models found that age and education were significantly associated with P-VFT (letters F, A, S, and M), S-VFT (Animals, Fruits and Professions categories), and BNT performance. Sex was only found to have an effect on the fruit category, with women scoring higher than men. The normative data provided in this study will contribute to improving the clinical practice of neuropsychology in Portugal.

Abstract 16095: Plasma NT-proBNP Concentrations are Two-fold Lower in Pacific versus European Population Samples: Evidence for Glycosylation Impacting Assay Detection and/or ProBNP Processing

Introduction: Pacific Islanders in New Zealand (NZ) have high rates of cardiovascular and metabolic disorders. The Pasifika Heart Study (PHS) recorded ethnic-specific clinical and biomarker data to inform clinical management in community care. Methods: For the PHS, Pacific adults (n=200) aged 20-64 years were selected from patients of a Pacific-led health centre in Christchurch, NZ, and screened for existing cardio-metabolic disorders and risk factors. Circulating concentrations of NT-proBNP (Roche Cobas NT-proBNP II), total proBNP and proBNP not glycosylated at Threonine 71 (T71) residue (both by in-house Luminex assays) were measured. Assay data were compared with European participants in the INSPIRE study (n=103 healthy volunteers, 20-70 years). Results: PHS participants had a mean age (SD) of 41.7 (11.5) years, 48% were male, mostly of Samoan and Tongan ethnicities (44% and 32% respectively). INSPIRE European participants had a mean age of 46.8 (15.0) years, 46% were male. NTproBNP concentrations measured by Cobas were two-fold lower in the PHS (median = 18.4 ng/L, IQR = [7.3, 35.8]) compared with INSPIRE (40.0 ng/L [19.8, 70.2]) (p&lt;0.001). Moreover, consistently lower concentrations were observedin PHS across a spectrum of either age or BMI (see Figure). In contrast, total proBNP concentrations exhibited a broad range in both cohorts, but did not differ between PHS (192.8 [35.7, 414.2] ng/L) and INSPIRE (36.1 [36.1, 225.1] ng/L, p&lt;0=0.278). This suggests that in the PHS, either the Cobas assay underestimates NT-proBNP due to glycosylation of antibody-binding sites and / or proBNP is not processed to NTproBNP due to glycosylation at the T71 cleavage site. As evidence for the latter, only 8% of PHS had proBNP not glycosylated at T71 versus 31% of INSPIRE (p&lt;0.001). Conclusions: Use of NT-proBNP thresholds based on European reference ranges to assess cardiovascular risk in community care may lead to under-diagnosis of evolving heart failure in Pacific Islanders.

P.172 No association between OXTR1, lifetime depression and childhood trauma in a European general population sample

Hepatorenal syndrome (HRS) is a life-threatening complication of end-stage liver disease characterized by the rapid decline of kidney function. Herein, we explored the therapeutic potential of targeting the cannabinoid-2 receptor (CB2-R) utilizing a commonly used mouse model of liver fibrosis and hepatorenal syndrome (HRS), induced by bile duct ligation (BDL).Gene expression analysis, histological evaluation, determination of serum levels of renal injury-biomarkers were used to characterize the BDL-induced organ injury; laser speckle analysis to measure microcirculation in the kidneys.We found that liver injury triggered marked inflammation and oxidative stress in the kidneys of BDL-operated mice. We detected pronounced histopathological alterations with tubular injury paralleled with increased inflammation, oxidative/nitrative stress and fibrotic remodeling both in hepatic and renal tissues as well as endothelial activation and markedly impaired renal microcirculation. This was accompanied by increased CB2-R expression in both the liver and the kidney tissues of diseased animals. A selective CB2-R agonist, HU-910, markedly decreased numerous markers of inflammation, oxidative stress and fibrosis both in the liver and in the kidneys. HU-910 also attenuated markers of kidney injury and improved the impaired renal microcirculation in BDL-operated mice.Our results suggest that oxidative stress, inflammation and microvascular dysfunction are key events in the pathogenesis of BDL-associated renal failure. Furthermore, we demonstrate that targeting the CB2-R by selective agonists may represent a promising new avenue to treat HRS by attenuating tissue and vascular inflammation, oxidative stress, fibrosis and consequent microcirculatory dysfunction in the kidneys.

P.267 Association of chronotype and variation in the CLOCK gene in a large general European population sample

Classic arterial and venous anatomy of the upper extremity are presented in this chapter. Congenital variants are discussed, as well as clinical correlates.

Normative data for tests of attention and executive functions in a sample of European Portuguese adult population

ABSTRACT Objective: The main goal of this study was to produce normative data for the Portuguese population on five neuropsychological tests frequently used to assess executive functions and attention: the Modified Wisconsin Card Sorting Test (M-WCST), the Stroop Color and Word Test, the Trail Making Test (TMT), the Brief Test of Attention (BTA), and the Symbol Digit Modalities Test (SDMT). Method: The study included 300 individuals aged between 18 and 93 years, who had educational backgrounds ranging from 3 to 25 years. Results: The influence of age, education, and sex was explored for each measure, as well as their contribution to explain the performance variance. Conclusions: The normative data are presented as regression-based algorithms to adjust direct and derived test scores for sex, age, and education. This study provides a calculator of normative data, derived from the results of the regression models.

Advanced procedures for skull sex estimation using sexually dimorphic morphometric features.

This paper introduces an automated method for estimating sex from cranial sex diagnostic traits by extracting and evaluating specialized morphometric features from the glabella, the supraorbital ridge, the occipital protuberance, and the mastoid process. The proposed method was developed and evaluated using two European population samples, a Czech sample comprising 170 crania reconstructed from anonymized CT scans and a Greek sample of 156 crania from the Athens Collection. It is based on a fully automatic algorithm applied on 3D models for extracting sex diagnostic morphometric features which are further processed by computer vision and machine learning algorithms. Classification accuracy was evaluated in a population specific and a population generic 2-way cross-validation scheme. Population-specific accuracy for individual morphometric features ranged from 78.5 to 96.7%, whereas population generic correct classification ranged from 71.7 to 90.8%. Combining all sex diagnostic traits in multi-feature sex estimation yielded correct classification performance in excess of 91% for the entire sample, whereas the sex of about three fourths of the sample could be determined with 100% accuracy according to posterior probability estimates. The proposed method provides an efficient and reliable way to estimate sex from cranial remains, and it offers significant advantages over existing methods. The proposed method can be readily implemented with the skullanalyzer computer program and the estimate_sex.m GNU Octave function, which are freely available under a suitable license.

Normative reference ranges for echocardiographic chamber dimensions in a healthy Central European population: results from the Czech post-MONICA survey

BackgroundNormative reference values for echocardiographic chamber quantification are of great importance; however, this can be challenging. Our aim was to derive these values including degrees of abnormality from a random Central European population sample with a homogeneous subset of healthy subjects.MethodsWe analysed echocardiograms obtained in a randomly selected population sample during the Czech post-MONICA survey in 2007/2008. Overall, 1850 out of 2273 persons of the whole sample of three districts had adequate echocardiograms (81.4%). A healthy subgroup defined by the absence of known cardiovascular disease was used to define normal reference range limits (n = 575, median age 42 years [IQR 34–52], 57% females). The whole population sample with predefined percentile cut-offs was used to define degrees of abnormality.ResultsLeft ventricular (LV) size tended to decrease with age, while LV mass increased with age in both males and females and in both the healthy and general populations. LV dimensions were larger in males, except for body surface area-indexed LV diameter. M-mode derived LV measurements were larger and LV mass higher compared to 2D measurements. Right ventricle basal dimension was larger in males.ConclusionsOur study provides reference ranges for echocardiographic measurements obtained in a healthy subgroup derived from an epidemiological study of a Central European population. Where feasible, degrees of abnormality are provided based on the whole population sample including patients with disease. Our data show that age, gender and measurement method significantly affect cardiac dimensions and function and should be always taken into account.

Is it possible myogenic temporomandibular dysfunctions change the facial thermal imaging?

Infrared thermography is a functional examination that can document physiological changes such as abnormal cutaneous vasomotor activity in inflammatory and neurogenic pictures related to nociceptive and neuropathic pain by mapping the thermal distribution on the surface of the skin. Objective: The aim of this study was to verify if there is a facial thermal difference between the symptomatic and asymptomatic group for myogenic TMD according to the Research Diagnostic Criteria for Temporomandibular Disorder (RDC/TMD) in a European population sample. Material and methods: Sixty-one subjects between 20 and 40 years (26.2 ± 7.6 years) of both sexes were divided into two groups. The 28 facial thermo-anatomic points were selected and the values of minimum (Tmin), mean (Tmed) and maximum (Tmax) temperatures, average of hemiface temperatures of whole sample, temperature difference (ΔT(°C)) between groups and from these data an algorithm was formulated to separate the groups with greater accuracy. Results: There was an average difference of 0.3 °C of all points when comparing the two groups. The symptomatic group had lower maximum temperature for frontal and lateral views when compared to the asymptomatic group (p&lt;0.05), and presented lower average temperature in frontal view (p&lt;0.05). Symptomatic individuals for myogenic TMD presented a reduction of facial cutaneous blood flow corresponding to lower maximum temperature by the proposed method of analysis of thermal anatomical points. Conclusions: Infrared thermography showed potential to be a screening and complementary diagnostic examination method for patients with myogenic temporomandibular disorders in the daily clinic just by frontal face image.

A method of sexing the human os coxae based on logistic regressions and Bruzek's nonmetric traits.

This study aims at proposing a visual method for sexing the human os coxae based on a statistical approach, using a scoring system of traits described by Bruzek (2002). This method is evaluated on a meta-population sample, where the data were acquired by direct observation of dry bones as well as computed tomography (CT) scans. A comparison with the original Bruzek's (2002) method is performed. Five hundred and ninety two ossa coxae of modern humans are included in the reference dataset. Two other samples, composed respectively of 518 ossa coxae and 99 CT-scan images, are both used for validation purposes. The individuals come from five European or North American population samples. Eleven trichotomic traits (expressing female, male, or intermediate forms) were observed on each os coxae. The new approach employs statistical processing based on logistic regressions. An R package freely available online, PELVIS, implements both methods. Both methods provide highly reliable sex estimates. The new statistical method has a slightly better accuracy rate (99.2%) than the former method (98.2%) but has also a higher rate of indeterminate individuals (12.9% vs. 3% for complete bones). The efficiency of both methods is compared. Low error rates were preferred over high ability of reaching the classification threshold. The impact of lateralization and the asymmetry of observed traits are discussed. Finally, it is shown that this visual method of sex estimation is reliable and easy to use through the graphical user interface of the R package.

Exome-wide survey of the Siberian Caucasian population

BackgroundPopulation structure is an important factor in the genetic association studies but often remains underexplored for many human populations. We identified exome variants in 39 Siberian Caucasian individuals from Novosibirsk, Russia and compared their genetic allele frequencies with European populations from 1000 Genomes Project.MethodsThe study participants were from Novosibirsk and represented people with monogenic diabetes, healthy individuals and a cohort from the tick-borne encephalitis study. Isolated DNA was enriched using Agilent SureSelect V5 kit and sequenced on Illumina HiSeq 4000 and genetic variants were identified using GATK pipeline. To estimate the patterns of the population structure we used PCA and ADMIXTURE analysis. Pharmocogenetically and medically important variants were annotated based on PharmGKB and ClinVar databases.ResultsThe analysis identified low, but highly significant population differentiation attributed to numerous loci between the Siberian Caucasian population and other European population samples as well as a higher proportion of the Finnish genetic component in the studied sample. The medical and pharmacogenetic annotation of highly significantly differentiated variants between the Novosibirsk and the combined European populations revealed a number of important genetic polymorphisms located in such genes as FCGR3B, TYR, OCA2, FABP1, CHEK2 and SLC4A1.ConclusionsThe study reports for the first time an exome-wide comparison of a population from Russia with European samples and emphasizes the importance of population studies with medical annotation of variants.