y-chromosome evidence for common ancestry of three chinese populations with a high risk of esophageal cancer染色体的证据共同祖先的三名中国人口与食道癌的风险很高.pdf

Y-Chromosome Evidence for Common Ancestry of Three Chinese Populations with a High Risk of Esophageal Cancer 1,2. 1 . 1 3,4 1 1 1 Haihua Huang , Min Su * , Xiaoyun Li , Hui Li , Dongping Tian , Yuxia Gao , Yubai Guo 1The Key Immunopathology Laboratory of Guangdong Province, Department of Pathology, Shantou University Medical College, Shantou, Guangdong, China, 2 Second Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong, China, 3 State Key Laboratory of Genetic Engineering and Center for Anthropological Studies, School of Life Sciences, Fudan University, Shanghai, China, 4 Department of Genetics, School of Medicine, Yale University, New Haven, Connecticut, United States of America Abstract High rates of esophageal cancer (EC) are found in people of the Henan Taihang Mountain, Fujian Minnan, and Chaoshan regions of China. Historical records describe great waves of populations migrating from north-central China (the Henan and Shanxi Hans) through coastal Fujian Province to the Chaoshan plain. Although these regions are geographically distant, we hypothesized that EC high-risk populations in these three areas could share a common ancestry. Accordingly, we used 16 East Asian-specific Y-chromosome biallelic markers (single nucleotide polymorphisms; Y-SNPs) and six Y-chromosome short tandem repeat (Y-STR) loci to infer the origin of the EC high-risk Chaoshan population (CSP) and the genetic relationship between the CSP and the EC high-risk Henan Taihang Mountain population (HTMP) and Fujian population (FJP). The predominant haplogroups in these three populations are O3*, O3e*, and O3e1, with no significant difference between the populations in the frequency of these genotypes. Frequency distribution and