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 principal component analysis revealed that the CSP is closely related to the HTMP and FJP, even though the former is geographically nearer to other populations (Guangfu and Hakka clans). The FJP is between the CSP and HTMP in the principal component plot. The CSP, FJP and HTMP are more closely related to Chinese Hans than to minorities, except Manchu Chinese, and are descendants of Sino-Tibetans, not Baiyues. Correlation analysis, hierarchical clustering analysis, and phylogenetic analysis (neighbor-joining tree) all support close genetic relatedness among the CSP, FJP and HTMP. The network for haplogroup O3 (including O3*, O3e* and O3e1) showed that the HTMP have highest STR haplotype diversity, suggesting that the HTMP may be a progenitor population for the CSP and FJP. These findings support the potentially important role of shared ancestry in understanding more about the genetic susceptibility in EC etiology in high-risk populations and have implications for determining the molecular basis of this disease.
Highlights
The non-recombining portion of the Y chromosome (NRY) has unique characteristics, including paternal inheritance, absence of recombination at meiosis, and a relatively low probability of recurrent mutations, endowing it with population- and areaspecific polymorphisms
The Y-chromosome haplogroups of the three studied populations mainly cluster around O3*, O3e*, and O3e1, which are the characteristic haplogroups for Northern East Asians; the overall frequencies were 65.16%, 66.21% and 60.42% for the Chaoshan population (CSP), Fujian population (FJP) and Henan Taihang Mountain population (HTMP), respectively, and did not significantly differ among the populations (2-sided X2 = 4.213, p = 0.122)
These results support the hypothesis of gene flow between the HTMP, FJP, and CSP
Summary
The non-recombining portion of the Y chromosome (NRY) has unique characteristics, including paternal inheritance, absence of recombination at meiosis, and a relatively low probability of recurrent mutations, endowing it with population- and areaspecific polymorphisms. NRY is useful for the study of human evolution and population genetics. Two types of polymorphisms exist on the NRY: single nucleotide polymorphisms (SNPs) and short tandem repeat (STR) loci, each with different mutation rates and mechanisms. Combined analysis using these 2 types of polymorphic markers increases the power of the NRY for use in tracing human evolution as well as migration through different geographic locales and time scales, and could be effective in depicting the paternal structures of populations. In 1999, Su et al [1] ascertained 17 Y-chromosome haplogroups based on 19 East Asian-specific biallelic markers that reveal the paternal structures of populations in East Asia. On the basis of Y-SNP and Y-STR variance, they concluded that the initial settlement of modern humans in East Asia occurred about 18,000–60,000 years ago [1]
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