青藏高原150例藏族人群全基因组芯片数据（2022）

青藏高原是对人类生存最具挑战性的环境之一，被誉为地球的“第三极”。平均海拔在4000米以上，4000m的氧分压仅为海平面60％左右。高原缺氧对于人类生存是一个强烈的选择压力，大部分高原非适应性个体暴露于高原缺氧环境会导致红细胞数量增加（红细胞增多症）和红细胞积压（Hematocrit, HCT）水平升高。高原藏族遗传背景单一，长期高海拔环境对高原适应相关基因有正选择作用，造成不同海拔梯度在相关的单核苷酸多态性（SNP）存在稳定连锁遗传差异，适于研究高海拔适应性表型与基因型间的关联。本研究采用DNA微阵列（DNA Array）的方法，对比了150例高原藏族及非藏族东亚人的男性全基因组芯片数据，每个样品获取约70万位点（包括核基因组、线粒体DNA和Y染色体）分型结果，分析其差异SNPs、基因及信号通路，并检测高原藏族男性为适应高海拔低氧环境产生的分子水平的适应性进化特征。该数据有助于从核基因组角度解析藏族人群的遗传适应性，通过与高原周边人群数据的比较，可以较为全面地了解高原土著男性的适应性进化。为研究人类及生物进化、探究高低海拔人群的分子水平差异性、不同地理环境人群的同源关系和低氧对于基因的选择作用等提供基础的遗传参考数据。

The Qinghai-Tibet Plateau is one of the most challenging environments for human survival, and is known as the "Third Pole" of the Earth. With an average elevation of over 4,000 meters, the oxygen partial pressure at 4,000 meters is only about 60% of that at sea level. Hypoxia on the plateau acts as a strong selective pressure for human survival. Most non-adaptive individuals exposed to the hypoxic high-altitude environment will experience increased red blood cell count (polycythemia) and elevated hematocrit (HCT) levels. The Tibetan population on the plateau has a relatively homogeneous genetic background. Long-term high-altitude environments have exerted positive selection on genes related to high-altitude adaptation, leading to stable linkage genetic differences in relevant single nucleotide polymorphisms (SNPs) across different altitude gradients, making this population ideal for studying the association between high-altitude adaptive phenotypes and genotypes. This study used DNA microarray (DNA Array) technology to compare whole-genome microarray data from 150 male individuals of Tibetan and non-Tibetan East Asian populations residing on the plateau. Approximately 700,000 genotyping loci (including nuclear genome, mitochondrial DNA, and Y chromosome) were obtained for each sample. We analyzed differential SNPs, genes, and signaling pathways, and detected molecular-level adaptive evolutionary characteristics of plateau Tibetan males in response to high-altitude hypoxic environments. This dataset aids in elucidating the genetic adaptation of the Tibetan population from the perspective of the nuclear genome. By comparing with data from populations surrounding the plateau, we can comprehensively understand the adaptive evolution of indigenous plateau males. It provides foundational genetic reference data for research on human and biological evolution, investigating molecular-level differences between high- and low-altitude populations, the phylogenetic relationships of populations across different geographic environments, and the selective effects of hypoxia on genes.

搜集汇总

背景与挑战

背景概述

该数据集包含150例高原藏族及非藏族东亚人的全基因组芯片数据，每个样本约70万个位点，用于研究高海拔适应性进化特征。数据以文本格式存储，适用于遗传适应性研究。