Characterization of HLA‐F polymorphism in four distinct populations in Mainland China

Abstract

Currently, there is a lack of information on polymorphism of human leucocyte antigen-F (HLA-F) gene in ethnically diverse human populations. In this study, HLA-F allelic typing was performed for 690 individuals representing two southern Chinese Han populations (Hunan Han and Guangdong Han) and two northern Chinese populations (Inner Mongolia Han and Inner Mongolia Mongol), using polymerase chain reaction-sequence-specific priming (PCR-SSP) and PCR-sequencing methods. Our results showed that (i) HLA-F*01 : 01 predominated in each population with a frequency >0.94 and HLA-F*01 : 03 was relatively more common in the two northern Chinese populations with a frequency of approximately 0.05; (ii) both geographical and ethnical factors are related to HLA-F allelic distribution, as evidenced by the significant difference in HLA-F allelic distribution between the Hunan Han population and the two northern Chinese populations; (iii) significant linkage disequilibrium (LD) was observed for haplotype HLA-A*03-F*01 : 03 in three populations. In most cases, this haplotype extended to HLA-E*01 : 03; and (iv) Ewens-Watterson homozygosity statistic at the HLA-F locus did not depart significantly from expectation in each of the four populations. Our data revealed a low level of HLA-F allelic variation in Chinese populations, suggesting that HLA-F gene may have existed before some of the HLA-A polymorphism and have been evolving under neutrality.

HLA‐F polymorphisms in a Euro‐Brazilian population from Southern Brazil

“…Zhang et al verified a significant difference in the HLA-F*01:04 allele frequency in patients affected by hepatitis B and hepatocellular carcinoma (4.3%) compared to healthy Han Chinese individuals (0.8%); odds ratio (OR) [95% confidence interval (CI)] = 5.87 (1.28 ± 26.78) (34). In this study population, concerning Euro-Brazilians, a distinct frequency was obtained for HLA-F*01:04 (0.25%) while in other four Chinese populations this allele was not detected (35). The allele frequencies of Euro-Brazilian and Chinese populations are depicted in Table 2.…”

Open conformers of HLA-F are high-affinity ligands of the activating NK-cell receptor KIR3DS1

“…Structural studies indicate that the few amino acid differences between KIR3DS1 and KIR3DL1 occur at sites critical for HLA-I binding 37 , which may explain the differences in ligands. From an evolutionary standpoint, these different ligand-binding profiles of KIR3DL1 towards various HLA-Bw4 allotypes and KIR3DS1 towards HLA-F (which is highly conserved and has one predominant *01:01 allele at a frequency >95% 38 ) provide an explanation for the high polymorphicity of KIR3DL1 and the relative monomorphicity of KIR3DS1.…”

Co-infecção Plasmodium falciparum e Schistosoma haematobium: papel dos genes HLA não-clássicos de classe I (HLA-G, -E e -F) na suscetibilidade à malária

“…The protein F*01:01 was observed in 77.63% of the individuals, accompanied by F*01:03 (19.41%) and F*01:02 (2.96%) (Table 15). These frequencies are closely similar to those reported in several studies, which mainly detected the two proteins (F*01:01 and F*01:03), for which F*01:01 is usually detected at higher frequency, and F*01:02, when detected, was always at low frequency (Pyo et al 2006;Moscoso et al 2007;Zhang et al 2012;Pan et al 2013;Manvailer et al 2014;Lima et al 2016). The presence of dinucleotide repeats at position +3097, as detected here (Table S3 in appendix III and Table 15) and in other studies (Auton et al 2015;Lima et al 2016), confirmed the existence of microsatellites and consequently the existence of new haplotypes harboring these microsatellites.…”