The genetic contribution of and to Posner-Schlossman syndrome in southern Chinese.

Background: The polymorphisms of classical and loci have been associated with Posner-Schlossman syndrome (PSS) in the southern Chinese population. However, the associations of non-classical (e.g., and ) loci with PSS have not been reported for in the southern Chinese population. This study aimed to evaluate the associations of the and 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 and genes were amplified by long-range high-fidelity PCR, and the third exon of the gene and the coding region of the gene were sequenced.

Results: The allele frequency of 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 and 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 alleles and genotypes between the two groups (all P>0.05). The haplotype frequency of 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 and might be risk factors for PSS.