Genetic link between Chaoshan and other Chinese Han populations: Evidence from HLA‐A and HLA‐B allele frequency distribution

Abstract

The genetic polymorphism of HLA-A and HLA-B loci was investigated in 505 Chaoshanese using PCR-SSP method. Among the HLA-A alleles detected, A*11 (35.64%) was most frequent, followed by A*02 (31.78%). Of 34 HLA-B alleles tested, 30 were observed, in which B*60 (21.68%), B*46 (14.46%), and B*58 (10.69%) were highly predominant. Comparison was made with other nine Chinese Han ethnic groups covering the Mainland China, Taiwan, Hong Kong, and Singapore. The high frequent alleles found in Chaoshanese were also common in other Chinese groups compared though the frequency levels varied from group to group. The phylogenic tree analysis based on the HLA-A and -B allele frequencies of all the 10 Chinese ethnic groups revealed that Chaoshanese, while clustering in general with the southern China-related Han Chinese, had the highest affinity to the Mainland Minnanese, but separated distinctively from the northern Han Chinese. The study, however, was yet to confirm the hypothesis of the Central Plains Han origin of Chaoshanese. Interestingly, the alleles (B*46, B*38, and B*58) and the related haplotypes (A*02-B*46 and A*33-B*58) that are positively associated with nasopharyngeal carcinoma (NPC), a disease prevailing predominantly among southern Chinese, were always at much higher frequencies among southern Chinese than among northern Chinese, whereas A*31 and B*13, the two alleles with highly protective effects for NPC, and the associated haplotype A*30-B*13 were predominantly high in northern Chinese. The different genetic background between northern and southern China may explain, at least partially, the prevalence of NPC among southern Chinese.

STR Polymorphisms of the Henan Population and Investigation of the Central Plains Han Origin of Chaoshanese

“…Further admixture analysis showed that a large proportion of genes of Central Plains Han origin was observed in Chaoshanese and Minnanese. This result is consistent with the historical record and our previous study based on HLA genotyping (Hu et al 2007). In the history of China, the Central Plains in the Yellow River drainage area is regarded as the place from where the Han started to expand outward.…”

“…groups, including Chaoshanese and Middle China, did not confirm the hypothesis of the Central Plains Han origin of Chaoshanese (Hu et al 2007). More sensitive markers that can reflect population kinship, evolution, and population characteristics would be helpful.…”

“…Our previous study based on HLA genotyping did not provide genetic evidence for the hypothesis that Chaoshanese originated from the Central Plains Han (Hu et al 2007). The samples of Middle China came from a broad geographic region (Shaw et al 1999) and might not represent the Central Plains.…”

Molecular Diagnosis in Head and Neck: What a Surgical Pathologist Must Know

“…Genetic predisposition to nasopharyngeal LEC has been suggested by correlation between development of tumors and certain HLA profiles [18,19]. The at-risk HLA types appear to be different from region-to-region.…”

Re-creation of the genetic composition of a founder population

“…Yet the admixture of groups from intra-continental sources has also been a familiar aspect of human population history. For example, the largest human population group, the Han Chinese, have been shown to consist of distinct subpopulations reflecting diverse origins, partial isolation and subsequent admixture (Hu et al 2007;Chen et al 2008). Even within national boundaries, European populations are also the product of waves of invasions and subsequent admixture reflected in their current genetic composition.…”