Abstract
BackgroundA previous genome-wide association study (GWAS) suggested a strong association between the single nucleotide polymorphism (SNP) rs10510181 in the proximity of the gene encoding a cell adhesion molecule with homology to L1CAM (CHL1) and adolescent idiopathic scoliosis (AIS) in Caucasians. To clarify the role of CHL1 in the etiopathogenesis of AIS, we performed a case-control replication study in a Han Chinese population.MethodsFive hundred female AIS patients between 10 and 18 years of age, as well as 500 age- and sex-matched controls were included. This study was conducted as a 2-stage case-control analysis: initial screening for the association between AIS and SNPs in and around the CHL1 gene (186 cases and 169 controls) followed by a confirmation test (314 cases and 331 controls). rs10510181 and 4 SNPs (rs2055314, rs331894, rs2272522, and rs2272524) in the CHL1 gene were selected for genotyping.ResultsPutative associations were shown between AIS and rs10510181, rs2055314, and rs2272522 in stage I. However, the associations were not confirmed in stage II. For rs10510181, the genotype frequencies were GG 28.8%, GA 46.2%, and AA 25.0% in AIS patients and GG 29.8%, GA 48.8%, and AA 21.4% in controls. No significant difference was found in genotype distribution between cases and controls (P = 0.39). Similarly, the genotype and allele distribution were comparable between case and control for rs2055314 and rs2272522.ConclusionsThere was no statistical association between polymorphisms of the CHL1 gene and idiopathic scoliosis in a Chinese population.
Highlights
A previous genome-wide association study (GWAS) suggested a strong association between the single nucleotide polymorphism (SNP) rs10510181 in the proximity of the gene encoding a cell adhesion molecule with homology to L1CAM (CHL1) and adolescent idiopathic scoliosis (AIS) in Caucasians
CHL1 encodes an axon guidance protein related to Robo3 [16], mutations of which could lead to horizontal gaze palsy with progressive scoliosis (HGPPS), a rare disease marked by severe scoliosis [17]
The results showed that rs10510181 was not associated with AIS in a Han Chinese population
Summary
A previous genome-wide association study (GWAS) suggested a strong association between the single nucleotide polymorphism (SNP) rs10510181 in the proximity of the gene encoding a cell adhesion molecule with homology to L1CAM (CHL1) and adolescent idiopathic scoliosis (AIS) in Caucasians. Sharma et al [15] performed a genomewide association study (GWAS) based on transmissiondisequilibrium tests in 419 AIS families, which identified associated single nucleotide polymorphisms (SNPs) in the proximity of the cell adhesion molecule with homology to the L1CAM (CHL1) gene. They genotyped additional SNPs in chromosome 3p26.3 and tested the association in two follow-up case-control cohorts. To confirm the association between rs10510181 and AIS, and to explore whether the CHL1 gene is associated with the occurrence of AIS, we conducted the present genetic association study in a Han Chinese population
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