Objective: To investigate the association between distribution of human leucocyte antigen class II DPB1 alleles and pathological myopia (PM) among Chinese.
Methods: The second exons of the HLA-DPB1 genes of 40 patients with PM were amplified by polymerase chain reaction (PCR), individual PCR products were digested by allele specific restriction enzymes: Bsp 1296 I, Fok I, Dde I, BsaJ I, BssH II, Rsa I, Ava II and EcoN I. Genotype of each patient was determined by restriction fragment length polymorphism (RFLP) pattern, then each DPB1 allele frequency of PM was calculated and compared with healthy control.
Results: The frequency of DPB1*0301 allele was significantly decreased in PM (Yates corrected chi 2 = 4.33, Fisher exacted P = 0.032 < 0.05) and no statistically significant difference was observed after P value was corrected by the number of compared alleles. The rate of DPB1*0501/0501 homozygote has a significant difference between PM and healthy controls (u = 2.27, P < 0.05).
Conclusions: No genetic susceptible or resistant allele exists in HLA-DPB1 gene of PM. The significant increase of DPB1*0501/0501 homozygote in PM may be a linkage information.