Dataset Information

Novel loci and Mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys.

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 it is unknown 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 [Formula: see text]month basis from childhood to adolescence between 2006 and 2019. We predict that, in average, HAPV is 4.3 cm higher in European than in Mapuche adolescents (P = 0.042), and APV is 0.73 years later in European compared with Mapuche adolescents (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 [Formula: see text]). This signal has never been associated with growth-related traits.

SUBMITTER: Vicuna L

PROVIDER: S-EPMC8553699 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature

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Novel loci and Mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys.

Vicuña Lucas L Norambuena Tomás T Miranda José Patricio JP Pereira Ana A Mericq Veronica V Ongaro Linda L Montinaro Francesco F Santos José L JL Eyheramendy Susana S

Human genetics 20210528 12

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 Euro ...[more]

PMID: 34047840

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Project description:ImportanceA secular trend for earlier menarcheal age has been established in girls but there are few studies of pubertal timing for boys.ObjectiveTo determine if there is a secular trend for earlier pubertal timing among boys.Design, setting, and participantsFor this population-based retrospective cohort study conducted in Gothenburg, Sweden, we collected heights and weights from school health records for boys born consecutively from January 1 and onwards in 1947 and every 5 years from 1951 to 1996 (n = 375 for each birth cohort from 1947-1991, n = 340 for the birth cohort in 1996, and n = 4090 for the total cohort). We estimated age at the peak height velocity (PHV), the maximum growth velocity during puberty, and childhood body mass index (BMI) at age 8 years for all study participants. The data were analyzed during 2018 and 2019. Boys were eligible if they had a complete personal identity number and data to calculate their age at PHV and childhood BMI. Approximately 2.4% of the original study population was excluded because they lacked a personal identity number, and in the remaining study population, 4090 (69%) had sufficient data to calculate childhood BMI and age at PHV.ExposuresThe exposure was birth year and a potential confounding factor was childhood BMI.Main outcomes and measuresThe outcome was age at PHV.ResultsOf the 4090 participants, most were white and the mean (SD) age at PHV was 13.9 (1.1) years. A linear regression model revealed a significant association between year of birth and age at PHV. Age at PHV was 1.5 months earlier for every decade increase in birth year (95% CI, -1.72 to -1.19; P < .001). After adjusting for childhood BMI, age at PHV was 1.2 months earlier per decade increase in birth year (95% CI, -1.41 to -0.89). All analyses were repeated in the subgroup of boys born in Sweden and with parents born in Sweden with similar results, indicating that the secular trend was not explained by demographic changes in the population between 1947 and 1996.Conclusions and relevanceWe provide evidence of a secular trend for earlier pubertal timing in boys that is partially explained by an increased childhood BMI, but other factors that are unknown contribute.

Dataset Information

Novel loci and Mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys.

Publications

Novel loci and Mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys.

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