Objective: To investigate the association of pathologic myopia (PM) with HLA-DQB1 alleles in order to study the pathogenesis of PM.
Methods: The genome DNA of 66 patients with PM was extracted from the blood. The second exon of the HLA-DQB1 gene was amplified by polymerase chain reaction (PCR), and individual PCR products were digested by allele specific restriction enzymes of Hae III, BssH II, Apa I, BsaH I, Hae II, Hpa II, Rsa I, Bsp 1286 I for typing. Genotype was determined by restriction fragment length polymorphism (RFLP) pattern. The frequency of 16 alleles of HLA-DQB1 was detected and compared with that of the healthy control.
Results: The frequencies of HLA-DQB1 * 0301 and * 0303 were significantly higher in the patients with PM (P < 0.0001), while that of HLA-DQB1 * 0601 and * 0602 were significantly lower (P < 0.0001) than that of the control group.
Conclusion: HLA-DQB1 * 0301, * 0303 alleles are susceptible alleles, and possibly they are the pathogenic genes, * 0601, * 0602 are resistant alleles, and may be they possess the protective property.