This work was supported by Danish Agency for Science, Technology and Innovation (09-067 180); Danish Ministry of the Environment, CeHoS (MST-621-00 065); Capital Region of Denmark (R129-A3966); Ministry of Higher Education and Science (DFF-1331-00 113); Innovation Fund Denmark (InnovationsFonden, grant no. 14-2013-4); The International Center for Research and Research Training in Endocrine Disrupting Effects of Male Reproduction and Child Health (EDMaRC). B.H., F.R.D., J.R.B.P. and K.K.O. are supported by the Medical Research Council (MC_UU_12015/2). The 23andMe study is supported by the National Human Genome Research Institute of the National Institutes of Health (grant number R44HG006981). Members of the 23andMe Research Team are employees of 23andMe, Inc., and hold stock or stock options in 23andMe.

Voice break in boys-temporal relations with other pubertal milestones and likely causal effects of BMI.

Background: Stress experienced by mothers during pregnancy can have both immediate and long-term effects on child development, potentially mediated by breastfeeding.Aim: Using a UK birth cohort stu...

https://www.tandfonline.com/doi/pdf/10.1080/03014460.2020.1751286

Prenatal anxiety, breastfeeding and child growth and puberty: linking evolutionary models with human cohort studies

CONTEXT Voice break, as a landmark of advanced male puberty in genome-wide association studies (GWAS), has revealed that pubertal timing is a highly polygenic trait. Although voice break is easily recorded in large cohorts, it holds quite low precision as a marker of puberty. In contrast, gonadarche and pubarche are early and clinically well-defined measures of puberty onset. OBJECTIVE To determine whether a polygenic risk score (PRS) of alleles that confer risk for voice break associates with age at gonadarche (AAG) and age at pubarche (AAP) in Chilean boys. EXPERIMENTAL DESIGN Longitudinal study. SUBJECTS AND METHODS 401 boys from the Growth and Obesity Chilean Cohort Study (n = 1194; 49.2% boys). MAIN OUTCOME MEASURES Biannual clinical pubertal staging including orchidometry. AAG and AAP were estimated by censoring methods. Genotyping was performed using the Multi-Ethnic Global Array (Illumina). Using GWAS summary statistics from the UK-Biobank, 29 significant and independent single nucleotide polymorphisms associated with age at voice break were extracted. Individual PRS were computed as the sum of risk alleles weighted by the effect size. RESULTS The PRS was associated with AAG (β=0.01, P = 0.04) and AAP (β=0.185, P = 0.0004). In addition, boys within the 20% highest PRS experienced gonadarche and pubarche 0.55 and 0.67 years later than those in the lowest 20%, respectively (P = 0.013 and P = 0.007). CONCLUSIONS Genetic variants identified in large GWAS on age at VB significantly associate with age at testicular growth and pubic hair development, suggesting that these events share a genetic architecture across ethnically distinct populations.

A Polygenic Risk Score Suggests Shared Genetic Architecture of Voice Break With Early Markers of Pubertal Onset in Boys

Earlier research has shown observational associations of early pubertal timing and poor mental health. Mendelian randomization (MR) studies demonstrated a transient effect of pubertal timing on mental health during adolescence, but not later in life. MR studies also showed that there is a likely causal association of pubertal timing with life history traits. However, the strongest causal effects and genetic correlations with age of menarche have been found for Body Mass Index (BMI). As high BMI is associated with lower socioeconomic status and with poor mental health, the shared genetic etiology of socioeconomic status, BMI and poor mental health is not yet fully understood. BMI correlates negatively with socioeconomic status and several mental health outcomes. Despite their substantial genetic overlap, the underlying genetic etiology of these phenotypes remains unclear. In this study we applied Linkage Disequi-librium score regression to test genetic correlations of age of menarche with 33 socioeconomic, life history, social interaction, personality and psychiatric traits, and BMI. We further applied spectral decomposition and hierarchical clustering to the genetic correlation matrix. After controlling for multiple testing, we could only identify significant genetic correlations with BMI and three socioeconomic traits (household income, deprivation and parental longevity). The results suggest that genome-wide association studies on age of menarche also contain socioeconomic information. Future MR studies aiming to test the unconfounded effect of pubertal timing should make sure that genetic instruments have no pleiotropic effect on socioeconomic variables, or (if possible) also control for socioeconomic status on the observational level.

/pdf/shared-genetic-etiology-of-age-of-menarche-and-2d9r5q43h6.pdf

Shared genetic etiology of age of menarche and sosocioeconomic variables: No evidence for geneticoverlap with psychiatric traits

CONTEXT Pubertal timing in boys is associated with body mass index (BMI). Studies consistently report an inverse correlation of BMI and pubertal timing within the normal BMI range. However, observations in obese boys are conflicting with different studies reporting either early or delayed pubertal onset in obese boys. OBJECTIVE We aimed to assess the association of male pubertal timing with age-specific BMI (zBMI) in obese boys. DESIGN, SETTING, AND PARTICIPANTS A total of 218 obese boys (zBMI > +2SD, with a median age at baseline of 10.8 years (range 4.2-17.0), were recruited as part of a prospective outpatient childhood obesity intervention program at Nordsjaellands Hospital, Hillerod, Denmark, between 2009 and 2017. Serving as controls, we included 660 healthy boys participating in the population-based COPENHAGEN Puberty Study (-2SD < zBMI ≤ +2SD, 2006-2014). Subanalyses were performed on overweight controls (+1SD < zBMI ≤ +2SD). The clinical assessment of pubertal development by Tanner staging, including testis volume using a Prader's orchidometer, was performed by trained physicians. The timing of pubertal milestones was estimated by probit analyses. MAIN OUTCOME MEASURES Timing of testicular volume ≥ 4 mL, genital stage ≥ 2, and pubarche. RESULTS The mean (95% confidence interval [CI]) age of onset of pubertal event in obese boys was as follows: testicular volume ≥ 4 mL, 11.3 years (11.0-11.6); genital stage ≥ 2, 11.6 yrs (11.3-11.9); and pubarche, 11.9 years (11.5-12.3). Testicular volume ≥ 4 mL occurred significantly earlier in obese boys compared to controls (-2SD < zBMI ≤ +2SD) (P = 0.01). We did not observe significant differences for either the timing of pubarche nor the genital stage ≥ 2 (P = 0.06 and P = 0.94, respectively). CONCLUSIONS We demonstrate that testicular enlargement in obese boys occurs significantly earlier compared to a population-based normal-weight reference cohort.

Obesity Is Associated with Earlier Pubertal Onset in Boys

The timing of puberty is highly variable and has important consequences for long-term health. Most of our understanding of the genetic control of puberty timing is based on studies in women, as age at menarche is often recorded. Here, we report a multi-trait genome-wide association study for male puberty timing, based on recalled timing of voice breaking and facial hair, with an effective sample size of 205,354 men, nearly four-fold larger than previously reported. We identify 78 independent signals for male puberty timing, including 29 signals not previously associated with puberty in either sex. Novel mechanisms include an unexpected phenotypic and genetic link between puberty timing and natural hair colour, possibly reflecting common effects of pituitary hormones on puberty and pigmentation. Earlier male puberty timing is genetically correlated with several adverse health outcomes and, in Mendelian randomization analyses, shows causal relationships with higher risk of prostate cancer and shorter lifespan. These findings highlight the relationships between puberty timing and later health outcomes, and demonstrate the value of genetic studies of puberty timing in both sexes.

/pdf/expanded-genomic-analyses-for-male-voice-breaking-highlights-4wsgi20ymo.pdf

Expanded genomic analyses for male voice-breaking highlights a shared phenotypic and genetic basis between puberty timing and hair colour

Handle everyday research tasks with reliable, citation-backed results

Your personal Research Agent to handle research tasks with citation-backed results

Popular Tasks used by Researchers

How can I help with your research?

Meet SciSpace

Get more enhanced response by uploading the PDFs you want me to reference.

No relevant PDFs in your library

SciSpace is the AI research assistant for academics. Run systematic literature reviews on 280M+ papers, and write papers with cited sources. Trusted by 1M+ students, PhDs & researchers.

SciSpace | AI for Research

Analyze PDFs

Code & Manuscripts

Funding & Grants

Literature & Patents

Medical & Clinical Data

Systematic Review

Visualize & Present

Web & Data

Build a Google Scholar-like website for your research.

Build a website

Create charts and images for your research

Create a Chart

Write a paper for submission to a journal

Draft a manuscript

Patent Search

Design eye-catching scientific posters in minutes.

Scientific Poster Generation

Systematic Literature Review

One task is running at the moment. Your messages will be shown right after.

Drag and drop or click here to browse

Loved by <highlight>1 million+</highlight> researchers

Extract a list of specific topics and their sources from unstructured text

Topics

Compare and analyze relevant papers that matches with your search

Papers

Get insights from PDFs and bookmarked papers from your library

My library

Recent searches

Try searching for:

Catch AI-generated content in scholarly and non-scholarly content

{ai} Detector

Ai Writer

Get PDF Summaries, highlighted text explanations 

Chat with PDF

Effortlessly create in-text citations and bibliographies in APA and 2,500 other formats

Citation generator

Get explanations, summaries, and answers on academic papers

Ease up your research workflow with {scispace}'s cohort of exciting AI tools

Elevate your academic writing skills and convey your ideas the way you want

Paraphraser

Explore our range of reading and writing tools

Your file is being prepared and should be ready in a few minutes. If it's a large file, it might take a bit longer. You can close this window, and we'll email you the file when it's done.

You have reached a maximum limit of <strong>{limit}</strong> columns in the table. Remove at least <strong>1</strong> column to add or create another one.

Soares Alg

Author Tools

Chat about Author

Papers

Expanded genomic analyses for male voice-breaking highlights a shared phenotypic and genetic basis between puberty timing and hair colour