The genetic contribution of HLA-E*01:03 and HLA-E*01:03-G*01:01 to Posner-Schlossman syndrome in southern Chinese

Xiaosheng Huang, Yunping Xu, Wenchieh Chen, Tianhui Zhu, Liumei He, Songxing Wang, Shiming Peng, Shaoyi Mei, Yan Wang, Jun Zhao


Background: The polymorphisms of classical HLA-Ia and HLA-II loci have been associated with Posner- Schlossman syndrome (PSS) in the southern Chinese population. However, the associations of non-classical HLA-Ib (e.g., HLA-E and HLA-G) loci with PSS have not been reported for in the southern Chinese population. This study aimed to evaluate the associations of the HLA-E and HLA-G loci with PSS in a southern Chinese Han population group.
Methods: Ninety-seven unrelated patients with PSS and 90 ethnically matched control subjects were recruited from the Shenzhen Eye Hospital in China. The full-length sequences of HLA-E and HLA-G genes were amplified by long-range high-fidelity PCR, and the third exon of the HLA-E gene and the coding region of the HLA-G gene were sequenced.
Results: The allele frequency of HLA-E*01:03 in patients with PSS was significantly higher than that in the control group (P=0.017, corrected P=0.034, OR =1.66). The genotype frequencies of HLA-E*01:01/01:03 and HLA-E*01:03/01:03 in the PSS group were significantly higher than that in the control group (P=0.027, OR =2.62; P=0.011, OR =3.05; respectively). There were no significant differences in the frequency of HLA-G alleles and genotypes between the two groups (all P>0.05). The haplotype frequency of HLA- E*01:03-G*01:01 in the PSS group was significantly higher than that in the control group (P=0.019, OR =1.63), although this association did not survive the Bonferroni correction (corrected P=0.13).
Conclusions: This study proved for the first time that HLA-E*01:03 and HLA-E*01:03-G*01:01 might be risk factors for PSS.