HLA-G*0105N and HLA-G 14 bp dimorphisms in exon 8 in four distinct populations in mainland China.

In this study, we investigated human leukocyte antigen (HLA)-G0105N and the 14 bp deletion/insertion polymorphism in exon 8 of the HLA-G gene in 600 individuals from two southern Chinese Han populations (Hunan Han and Guangdong Han) and two northern Chinese populations (Inner Mongolia Han and Inner Mongolia Mongol), we also studied the linkage disequilibrium (LD) between HLA-G and HLA-A locus in these four populations. Our data showed that (1) the allele and haplotype frequencies of HLA-G and HLA-A loci did not differ significantly between the two southern Chinese Han populations, and showed remarkable homogeneity in the two northern Chinese populations; (2) HLA-G0105N had significantly higher frequencies in the two northern Chinese populations with a frequency of 10.1% in the Inner Mongolia Han population, HLA-G 14 bp deletion/insertion frequency did not differ significantly between the southern and northern Chinese populations; (3) Ewens-Watterson homozygosity statistics at HLA-G0105N, HLA-G 14 bp deletion/insertion polymorphism and HLA-A were consistent with neutral expectations for all populations; (4) HLA-G0105N allele harbored the HLA-G 14 bp insertion in exon 8 and was linked to HLA-A30, five HLA-G0105N homozygotes were detected in the four populations; (5) haplotypes HLA-A30-HLA-G0105N and HLA-A02-HLA-G 14 bp deletion were in significant LD across four populations, other LD patterns were more population-specific. Our data suggest that HLA-A30-HLA-G0105N-HLA-G 14 bp insertion is a conserved haplotype, the ethnic and/or geographic difference in HLA-G0105N and HLA-G 14 bp distribution could largely be attributable to demographic factors other than selection. The LD patterns uncovered will facilitate the understanding of HLA-G role in associations previously described between HLA-A subregion and diseases.