Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction.

Background: The 313-variant polygenic risk score (PRS) provides a promising tool for clinical breast cancer risk prediction. However, evaluation of the PRS across different European populations which could influence risk estimation has not been performed.

Methods: We explored the distribution of PRS across European populations using genotype data from 94,072 females without breast cancer diagnosis, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 223,316 females without breast cancer diagnosis from the UK Biobank.

Child abuse and pubertal timing: what is the role of child sex and identity of the perpetrator?

Background: This study investigated the association between child abuse [child neglect (CN), emotional (CEA) and physical abuse (CPA)] and early puberty with special regard to sex-specific effects concerning child and parental perpetrator.

Methods: Data assessment took place within the framework of the LIFE Child Depression study, a longitudinal study on the development of depressive symptoms and disorders between child- and adulthood in Leipzig, Germany. A sample of 709 children (8-14 years) was recruited from the general population and via psychiatric hospitals.

Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction.

The 313-variant polygenic risk score (PRS) provides a promising tool for breast cancer risk prediction. However, evaluation of the PRS across different European populations which could influence risk estimation has not been performed. Here, we explored the distribution of PRS across European populations using genotype data from 94,072 females without breast cancer, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 225,105 female participants from the UK Biobank.

Differences in Anthropometric Measures Based on Sex, Age, and Health Status: Findings From the German National Cohort (NAKO).

Background: Obesity is a worldwide health problem. We conducted detailed analyses of anthropometric measures in a comprehensive, population-based, current cohort in Germany.

Methods: In the German National Cohort (NAKO), we analyzed cross-sectional data on body mass index (BMI), waist and hip circumference, subcutaneous (SAT) and visceral adipose tissue (VAT) as measured by ultrasound, and body fat percentage.

Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.

Linkage and candidate gene studies have identified several breast cancer susceptibility genes, but the overall contribution of coding variation to breast cancer is unclear. To evaluate the role of rare coding variants more comprehensively, we performed a meta-analysis across three large whole-exome sequencing datasets, containing 26,368 female cases and 217,673 female controls. Burden tests were performed for protein-truncating and rare missense variants in 15,616 and 18,601 genes, respectively.

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.

Background: The distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity, for application using the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) variant classification system.

Methods: Data for 10,373 ovarian cancer cases, including carriers and non-carriers of BRCA1 or BRCA2 pathogenic variants, were collected from unpublished international cohorts and consortia and published studies.

Associations between eating in the absence of hunger and executive functions in adolescents with binge-eating disorder: An experimental study.

Eating in the absence of hunger (EAH) is one of the key behavioral features of binge-eating disorder (BED) in youth. Although preliminary evidence revealed that adolescent BED co-occurs with deficits in executive functions (EFs), it is unclear whether EFs are related to EAH. Thus, this study experimentally examined whether deficits in EFs predict EAH in adolescents with and without BED.

Pharmacoepidemiological Analysis of Oral Contraceptive Use in Adolescents in a German Longitudinal Cohort Study.

To assess the use of oral contraceptives (OC) in adolescents, using data from a longitudinal, population-based pediatric cohort study (LIFE Child). We also investigated associations between OC use and socioeconomic status (SES), and associations between OC use and potential adverse drug reactions such as effects on blood pressure. We included 609 female participants of the LIFE Child cohort, aged ≥13 to <21 years, who visited the study center between 2012 and 2019.

FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.

Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women with a family history of the disease. Association between FANCM missense variants (MVs) and breast cancer risk has been postulated. In this study, we further used the BRIDGES study to test 689 FANCM MVs for association with breast cancer risk, overall and in ER-negative and TNBC subtypes, in 39,885 cases (7566 selected for family history) and 35,271 controls of European ancestry.

Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry.

Background: Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes.

Methods: We evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls.

Grip strength values and cut-off points based on over 200,000 adults of the German National Cohort - a comparison to the EWGSOP2 cut-off points.

Background: The European Working Group on Sarcopenia in Older People (EWGSOP) updated in 2018 the cut-off points for low grip strength to assess sarcopenia based on pooled data from 12 British studies.

Objective: Comparison of the EWGSOP2 cut-off points for low grip strength to those derived from a large German sample.

Methods: We assessed the grip strength distribution across age and derived low grip strength cut-off points for men and women (peak mean -2.

Associations of Personality, Physical and Mental Health with Voice Range Profiles.

Objectives: There is evidence in the literature that voice characteristics are linked to mental and physical health. The aim of this explorative study was to determine associations between voice parameters measured by a voice range profile (VRP) and personality, mental and physical health.

Study Design: Cross-sectional population-based study.

HBM4EU feasibility studies: Lessons learned in combining health and human biomonitoring studies.

Background: The European Human Biomonitoring Initiative (HBM4EU) is a joint program evaluating humans' exposure to several environmental substances and their potential health effects. One of the main objectives of HBM4EU is to make use of human biomonitoring (HBM) to assess human exposure to chemicals in Europe to better understand the associated health impacts and to improve chemical risk assessment. In parallel to HBM studies, health examination surveys (HESs), nutrition/dietary surveys, and disease specific health surveys are conducted in many European countries.

The Association of Resilience with Mental Health in a Large Population-Based Sample (LIFE-Adult-Study).

Resilience describes a good adaptation to adversity. Strengthening resilience is a promising approach in the prevention of mental health problems. Yet, research on the association of resilience with mental health symptoms in the general population is scarce.

Event dependent overall survival in the population-based LIFE-Adult-Study.

Backround: Information about the direct comparability of big data of epidemiological cohort studies and the general population still is lacking, especially regarding all-cause mortality rates. The aim of this study was to investigate the overall survival and the influence of several diagnoses in the medical history on survival time, adjusted to common risk factors in a populations-based cohort.

Methods: From 10,000 subjects of the population-based cohort LIFE-Adult-Study (Leipzig Research Centre for Civilization Diseases), the medical history and typical risk factors such as age, smoking status and body-mass-index (BMI) were assessed.

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation.