汉族是中国的主体民族，约占全国总人口数的91.51%（第六次人口普查），也是世界上人口规模最大的族群。其人群结构和人口历史是体质人类学和遗传学研究的热点。前期研究发现现代汉族的体质形态特征和遗传结构呈现明显的南北差异。但是，导致汉族体质形态特征的南北差异及其形成的遗传机制，尚缺乏系统地研究。项目组前期研究发现EDARV370A显著地影响了东亚人群的汗腺密度、毛发硬直、三角形耳垂、后缩型下巴、铲形门齿和双铲形门齿等体质形态。本项目拟通过对南方汉族（广州汉族）和北方汉族（郑州汉族）的体质形态特征的数据分析，从200余项形态特征中筛选出在南方汉族和北方汉族中存在较大差异的形态特征开展全基因组关联分析，揭示汉族南北体质形态特征差异及其相关基因。该项目对探索汉族起源和汉族体质形态特征形成意义重大。

With a population of 1,225,932,641, the Han Chinese constitutes approximately 91.51 % of Chinese population and 17.51 % of the entire global population, making them the largest ethnic group in the world. It has repeatedly been the subject of physical and genetic studies to elucidate its population structure and historic demography. In this context, an obvious physical and genetic north-south division in the Han Chinese has been observed. However, these physical characteristics influencing the appearance differentiation between northern and southern Han and their associated genes remain unclear, because of a lack of systematic study. In our previous studies, we found that gene EDARV370A affecting ectodermal-derived characteristics is associated with a series of unique phenotypes in the East Asian populations, such as increased number of eccrine glands, straight hair, triangular shape of earlobe, retruded chin, incisors shoveling or double shoveling, etc. In this proposal, we will conduct a comprehensive physical anthropological investigation in two typical Han Chinese populations (the northern Han in Henan province and southern Han in Guangdong province), and further find out the variation that are marked different between northern and southern Han from 200 items of physical characteristics. To search the specific genetic variants influencing these phenotypes, genome-wide scans will be performed via Axiom® PMRA. This interdisciplinary approach will yield unique insight into the generation of adaptive variation among Han Chinese.