RUNX2 and IL-15RA Polymorphisms associated with OPLL in the Han and Mongolian population

Objective: This study aimed to find polymorphic loci associated with OPLL in Mongolian and Han population, the relationship of 9 polymorphic loci in Runx2 and IL-15RA with OPLL were identified in Mongolian and Han populations in Inner Mongolia.

Methods: Gene polymorphism of two candidate genes Runx2 and IL-15RA were detected by sequencing in 99 OPLL patients of Han population and 98 patients of Mongolian people. Controls included 102 healthy Han people and 104 healthy Mongolian people. The result of sequencing of patients were compared with control subjects to screen loci with significant difference.

Results: In Han population, results of genotyping showed rs1321075 and rs12333172 in Runx2 and rs2296139 in IL-15RA differed between patients and healthy people (P<0.05); Genotype of rs1321075 and rs16873379 and rs2296139 in IL-15RA have significant difference between patients and controls in Mongolian people (P<0.05); There was no significant difference found in genotype and frequency of other loci (P>0.05).

Conclusions: Polymorphism of rs1321075 and rs2296139 in Runx2 and IL-15RA may be responsible for OPLL in Mongolian and Han population patients. rs12333172 was related to OPLL in Han population and rs16873379 was responsible for OPLL in Mongolian people in Inner Mongolia.