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. 2010 Jun 15;5(6):e11118.
doi: 10.1371/journal.pone.0011118.

Y-chromosome evidence for common ancestry of three Chinese populations with a high risk of esophageal cancer

Haihua Huang  1 , Min Su, Xiaoyun Li, Hui Li, Dongping Tian, Yuxia Gao, Yubai Guo
Affiliations

Y-chromosome evidence for common ancestry of three Chinese populations with a high risk of esophageal cancer

Haihua Huang et al. PLoS One. .

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.

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Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Geographic distribution of the three studied EC high-risk populations.
Arrows show the north-to-south migrations of Han inhabitants from north-central China according to historical records. CSP, Chaoshan EC high-risk population; FJP, Fujian EC high-risk population; HTMP, Henan Taihang Mountain EC high-risk population.
Figure 2
Figure 2. The two-dimensional maps of Y-SNP frequencies.
In the principal-component plot, the smaller the distance between populations, the closer their relationship. In general 23 populations are divided into 4 clusters: the three EC high-risk populations, two Northern Han populations (labeled 5 and 6) and Hakka population, two Southern Han populations (labeled 22 and 23) and the rest of the Northern Han and Southern Han cluster, respectively. 1, Chaoshan EC high-risk population; 2, Fujian EC high-risk population; 3, Henan Taihang Mountain EC high-risk population; 4, Hebei Han; 5, Liaoning Han; 6, Xinjiang Han; 7, Shangdong Han; 8, Gansu Han; 9, Shanxi Han; 10, Neimeng Han; 11, Henan Han; 12, Hakka Han; 13, Hunan Han; 14, Hubei Han; 15, Guangzhou Han; 16, Zhejiang Han; 17, Jiangxi Han; 18, Shanghai Han; 19, Anhui Han; 20, Jiangsu Han; 21, Yunnan Han; 22, Guangxi Han; 23, Sichuan Han. 4–11 refer to Northern Han and 12–23 to Southern Han.
Figure 3
Figure 3. The two-dimensional graphs of Y-STR frequencies.
This map accounts for 76.88% of the original genetic variation. The three EC high-risk populations and Manchu form 2 clusters; the three Northern Han (labeled 10–12) and five Southern Han populations (labeled 5–9) form another group. The remaining populations are scattered. 1, Chaoshan EC high-risk population; 2, Fujian EC high-risk population; 3, Henan Taihang Mountain EC high-risk population; 4, Fujian Han; 5, Anhui Han; 6, Yunnan Han; 7, Henan Han; 8, Zhejiang Han; 9, Guangzhou Han; 10, Dongbei Han; 11, Beijing Han; 12, Tianjing Han; 13, Tibetan; 14, Uygur; 15, Krigiz; 16, Manchu; 17, Shui; 18, Naxi; 19, Zhuang. 4–9 refer to Southern Hans, 10–12 to Northern Hans, 13–17 to Northern minority nationalities, 18–19 to Southern minority nationalities.
Figure 4
Figure 4. Principal component dot plot of Y-chromosome haplogroups.
Chaoshan, Henan Taihang Mountain and Fujian EC high-risk populations are clustered together and located among Sino-Tibetan populations, which suggests a close genetic relationship among them.
Figure 5
Figure 5. Dendrogram based on Y-SNP data.
Shows the affinity between the three EC high-risk populations. Most Chinese Hans are grouped into a large cluster in the upper part of the dendrogram.
Figure 6
Figure 6. A neighbor-joining tree of Chinese populations based on Y-STR data.
This unrooted tree was constructed by use of genetic distances between populations. Shows that the EC high-risk Chaoshan is extremely close to the EC high-risk FJP and that the 2 are clustered with the EC high-risk HTMP. Hunan, Tianjing, Dongbei, and Henan Hans are grouped in the upper part of the tree.
Figure 7
Figure 7. STR network of haplogroups O3*, O3e* and O3e1 of the three EC high-risk populations.
In the network, HTMP have more STR haplogroup polymorphisms than CSP and FJP. Six Y-STRs of HTMP are share by CSP and/or FJP. Circles represent lineages, area is proportional to frequency, and color indicates population of origin.
Figure 8
Figure 8. Phylogenetic diagram of 17 haplogroups.
This diagram defined by 16 Y chromosome biallelic markers drawn according to the NRY haplogroup tree of East Asia (shown in reference 34). The most recent markers defining the haplogroups are beside the branches.
See this image and copyright information in PMC

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