Association between ring finger protein 213 gene polymorphisms and the genetic susceptibility of adult Moyamoya disease in a Han Chinese population

Abstract

Objective To explore the association between rs112735431 and rs138130613 polymorphisms of ring finger protein 213 (RNF213) gene and the genetic susceptibility of adult Moyamoya’s disease (MMD) in a Han Chinese population. Methods Sixty-four consecutive adult patients with MMD diagnosed by digital subtraction angiography were recruited from Nanjing Stroke Registry Program of Jinling Hospital between December 2010 and October 2011.Ninety-six genderand age-matched healthy individuals consisted of the control group.All the subjects were Han Chinese in origin.Polymorphisms of rs112735431 and rs138130613 in RNF213 gene were genotyped by the improved multiple ligase detection reaction.Each genotype and allele frequencies were compared between the MMD group and the control group. Results The genotype frequencies of rs112735431 (GA+ AA, GG) accounted for 10.94% (7/64), 89.06% (57/64), and the allele A and G frequency was 6.25% (8/128), 93.75% (120/128) in MMD group, and 1.04% (1/96), 98.96% (95/96), 0.52% (1/192), 99.48% (191/192) in the control group, respectively.There was significant difference between two groups (OR=11.67, 95% CI 1.40-97.28, P=0.007;OR=12.73, 95% CI 1.57-103.09, P=0.003).The genotype frequencies of rs138130613 and the allele C and T showed no significant difference between MMD group and the control group. Conclusion Polymorphism of rs112735431 in RNF213 might be a genetic marker for MMD in a Han Chinese population. Key words: Moyamoya disease; Ubiquitin-protein ligases; Polymorphism，single nucleotide; Genetic predisposition to disease