Background: In a recent genome wide association study, polymorphisms in the DSCAM and CNTNAP2 genes were reported to be related with susceptibility of AIS. Consequently, further replication studies are warranted in other populations due to ethnic difference in genetic background.
Objective: To explore whether single nucleotide polymorphisms (SNPs) of DSCAM (rs2222973) and CNTNAP2 (rs11770843) genes are associated with the susceptibility and curve severity of AIS in a Chinese Han population.
Methods: A total of 648 AIS patients and 573 age- and sex-matched healthy adolescents in rs2222973 were recruited, and in rs11770843 there were 100 AIS patients and 100 age- and sex-matched healthy adolescents included in present study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was repeatedly carried out to verify the linkage of AIS with SNPs rs2222973 in the DSCAM gene and rs11770843 in the CNTNAP2 gene. Case-control and case-only studies were respectively performed to define the contribution of the DSCAM gene polymorphisms to predisposition and disease severity of AIS.
Results: Association analysis of the DSCAM SNP rs2222973 with AIS revealed no significant differences both in genotype frequency (p= 0.280) and allelic frequency (p= 0.643). The CNTNAP2 SNP rs11770843 (C/T) was not found in either the AIS or control group; all 100 AIS patients and 100 normal controls had the T/T genotype. Among skeletally matured AIS patients, the average maximal Cobb angles were also comparable within different DSCAM genotypes.
Conclusion: Our study did not repeatedly confirm the association of the rs2222973 or the rs11770843 with AIS in a Chinese Han population. We concluded that the associations of rs2222973 with AIS predisposition and curve severity are negative in a Chinese Han population.
Keywords: Adolescent idiopathic scoliosis; DSCAM and CNTNAP2 genes; single nucleotide polymorphism.