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新的基因座和马普切遗传血统与智利男孩青春期生长特征有关。

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

机构信息

Faculty of Engineering and Sciences, Universidad Adolfo Ibáñez, Peñalolén, Santiago, Chile.

Instituto Milenio de Investigación Sobre los Fundamentos de los Datos (IMFD), Santiago, Chile.

出版信息

Hum Genet. 2021 Dec;140(12):1651-1661. doi: 10.1007/s00439-021-02290-3. Epub 2021 May 28.

DOI:10.1007/s00439-021-02290-3
PMID:34047840
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8553699/
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.

摘要

青春期是一个复杂的发育过程，在个体和人群之间存在很大差异。遗传因素解释了几个青春期特征的可变性的很大一部分。最近的全基因组关联研究（GWAS）已经确定了数百个与身体生长相关的特征所涉及的变异，如成年身高。然而，它们并不能捕捉到许多涉及不同生长阶段生长变化的遗传位点。此外，此类 GWAS 主要在欧洲人群中进行，但尚不清楚这些发现与其他大陆人群有何关系。在这项研究中，我们分析了三个青春期特征的遗传基础；即身高突增高峰期（PV）、PV 年龄（APV）和 APV 时的身高（HAPV）。我们分析了一个由 904 名具有欧洲和马普切土著美洲血统的混合智利儿童和青少年组成的队列。身高在 2006 年至 2019 年的儿童期到青春期期间，大约每[Formula: see text]个月测量一次。我们预测，平均而言，欧洲青少年的 HAPV 比马普切青少年高 4.3 厘米（P = 0.042），欧洲青少年的 APV 比马普切青少年晚 0.73 岁（P = 0.023）。此外，通过对 774,433 个单核苷酸多态性进行 GWAS，我们在男孩中发现了一个与 PV 显著相关的遗传信号，该信号包含 3 个连锁变异（P [Formula: see text]）。这个信号从未与与生长相关的特征有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ceb2/8553699/4d6e5e8caa32/439_2021_2290_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ceb2/8553699/7a8e8c5ca695/439_2021_2290_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ceb2/8553699/386074761ff3/439_2021_2290_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ceb2/8553699/5f5d89539eb8/439_2021_2290_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ceb2/8553699/3ace8607ef33/439_2021_2290_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ceb2/8553699/da442eda47e4/439_2021_2290_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ceb2/8553699/4d6e5e8caa32/439_2021_2290_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ceb2/8553699/7a8e8c5ca695/439_2021_2290_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ceb2/8553699/386074761ff3/439_2021_2290_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ceb2/8553699/5f5d89539eb8/439_2021_2290_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ceb2/8553699/3ace8607ef33/439_2021_2290_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ceb2/8553699/da442eda47e4/439_2021_2290_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ceb2/8553699/4d6e5e8caa32/439_2021_2290_Fig6_HTML.jpg

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