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Author (up) Kong, Q.X.; Mondschein, S.; Pereira, A. pdf  doi
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  Title Effectiveness of breast cancer screening policies in countries with medium-low incidence rates Type
  Year 2018 Publication Revista De Saude Publica Abbreviated Journal Rev. Saude Publica  
  Volume 52 Issue Pages 9 pp  
  Keywords Breast Neoplasms, epidemiology; Early Detection of Cancer; Mammography; Mass Screening; Preventive Health Services; Health Policy  
  Abstract Chile has lower breast cancer incidence rates compared to those in developed countries. Our public health system aims to perform 10 biennial screening mammograms in the age group of 50 to 69 years by 2020. Using a dynamic programming model, we have found the optimal ages to perform 10 screening mammograms that lead to the lowest lifetime death rate and we have evaluated a set of fixed inter-screening interval policies. The optimal ages for the 10 mammograms are 43, 47, 51, 54, 57, 61, 65, 68, 72, and 76 years, and the most effective fixed inter-screening is every four years after the 40 years. Both policies respectively reduce lifetime death rate in 6.4% and 5.7% and the cost of saving one life in 17% and 9.3% compared to the 2020 Chilean policy. Our findings show that two-year inter-screening interval policies are less effective in countries with lower breast cancer incidence; thus we recommend screening policies with a wider age range and larger inter-screening intervals for Chile.  
  Address [Kong, Qingxia] Univ Adolfo Ibanez, Escuela Negocios, Santiago, Chile, Email: apereira@inta.uchile.cl  
  Corporate Author Thesis  
  Publisher Revista De Saude Publica Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0034-8910 ISBN Medium  
  Area Expedition Conference  
  Notes WOS:000424275900004 Approved  
  Call Number UAI @ eduardo.moreno @ Serial 820  
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Author (up) Lardone, M.C.; Busch, A.S.; Santos, J.L.; Miranda, P.; Eyheramendy, S.; Pereira, A.; Juul, A.; Almstrup, K.; Mericq, V. doi  openurl
  Title A Polygenic Risk Score Suggests Shared Genetic Architecture of Voice Break With Early Markers of Pubertal Onset in Boys Type
  Year 2020 Publication Journal Of Clinical Endocrinology & Metabolism Abbreviated Journal J. Clin. Endocrinol. Metab.  
  Volume 105 Issue 3 Pages E349-E357  
  Keywords gonadarche; pubarche; polygenic risk score; GWAS; male puberty  
  Abstract 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 (beta=0.01, P = 0.04) and AAP (beta=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.  
  Address [Lardone, Maria C.; Mericq, Veronica] Univ Chile, Sch Med, Inst Maternal & Child Res, Santiago 8360160, Chile, Email: vmericq@med.uchile.cl  
  Corporate Author Thesis  
  Publisher Endocrine Soc Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0021-972x ISBN Medium  
  Area Expedition Conference  
  Notes WOS:000525870500035 Approved  
  Call Number UAI @ eduardo.moreno @ Serial 1151  
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Author (up) Vicuna, L.; Barrientos, E.; Norambuena, T.; Alvares, D.; Gana, J.C.; Leiva-Yamaguchi, V.; Meza, C.; Santos, J.L.; Mericq, V.; Pereira, A.; Eyheramendy, S. doi  openurl
  Title New insights from GWAS on BMI-related growth traits in a longitudinal cohort of admixed children with Native American and European ancestry Type
  Year 2023 Publication iScience Abbreviated Journal iScience  
  Volume 26 Issue 2 Pages 106091  
  Keywords  
  Abstract Body-mass index (BMI) is a hallmark of adiposity. In contrast with adulthood, the genetic architecture of BMI during childhood is poorly understood. The few genome-wide association studies (GWAS) on children have been performed almost exclusively in Europeans and at single ages. We performed cross-sectional and longitudinal GWAS for BMI-related traits on 904 admixed children with mostly Mapuche Native American and European ancestries. We found regulatory variants of the immune gene HLA-DQB3 strongly associated with BMI at 1.5 – 2.5 years old. A variant in the sex-determining gene DMRT1 was associated with the age at adiposity rebound (Age-AR) in girls (P = 9.8 x 10(-9)). BMI was significantly higher in Mapuche than in Europeans between 5.5 and 16.5 years old. Finally, Ag  
  Address  
  Corporate Author Data Observatory Thesis  
  Publisher Place of Publication Editor  
  Language Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 2589-0042 ISBN Medium  
  Area Expedition Conference  
  Notes WOS:000990651700001 Approved  
  Call Number UAI @ alexi.delcanto @ Serial 1808  
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Author (up) Vicuna, L.; Norambuena, T.; Miranda, JP.; Pereira, A.; Mericq, V.; Ongaro, L.; Montinaro, F.; Santos, JL.; Eyheramendy, S. doi  openurl
  Title Novel loci and mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys Type
  Year 2021 Publication Human Genetics Abbreviated Journal Hum. Genet.  
  Volume 140 Issue 12 Pages 1651-1661  
  Keywords PEAK HEIGHT VELOCITY; SECULAR TRENDS; GENOME; HEALTH; GWAS; AGE; SELECTION; VARIANTS; RESOURCE; DISEASE  
  Abstract Puberty is a complex developmental process that varies considerably among individuals and populations. Genetic factors explain a large proportion of the variability of several pubertal traits. Recent genome-wide association studies (GWAS) have identified hundreds of variants involved in traits that result from body growth, like adult height. However, they do not capture many genetic loci involved in growth changes over distinct growth phases. Further, such GWAS have been mostly performed in Europeans, but we do not know how these findings relate to other continental populations. In this study, we analyzed the genetic basis of three pubertal traits; namely, peak height velocity (PV), age at PV (APV) and height at APV (HAPV). We analyzed a cohort of 904 admixed Chilean children and adolescents with European and Mapuche Native American ancestries. Height was measured on roughly a 6-month basis from childhood to adolescence between 2006 and 2019. We predict that the difference in HAPV between an European and a Mapuche adolescent is 4.3 cm higher in the European (P = 0.042) and APV is 0.73 years later for the European compared with the Mapuche adolescent on average (P = 0.023). Further, by performing a GWAS on 774, 433 single-nucleotide polymorphisms, we identified a genetic signal harboring 3 linked variants significantly associated with PV in boys (P < 5 x 10(-8)). This signal has never been associated with growth-related traits.  
  Address  
  Corporate Author Thesis  
  Publisher Place of Publication Editor  
  Language Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0340-6717 ISBN Medium  
  Area Expedition Conference  
  Notes WOS:000655840600001 Approved  
  Call Number UAI @ alexi.delcanto @ Serial 1394  
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