Association between polymorphism of Matrilin-1 gene (MATN1) with susceptibility to adolescent idiopathic scoliosis.
- Author:
Zhi-jun CHEN
1
;
Yong QIU
;
Yang YU
;
Bin WANG
;
Ze-zhang ZHU
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Cartilage Oligomeric Matrix Protein; Case-Control Studies; Child; Extracellular Matrix Proteins; genetics; Female; Follow-Up Studies; Genetic Predisposition to Disease; Genotype; Glycoproteins; genetics; Humans; Linkage Disequilibrium; Male; Matrilin Proteins; Polymorphism, Single Nucleotide; Scoliosis; genetics; Young Adult
- From: Chinese Journal of Surgery 2009;47(17):1332-1335
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the association of matrilin-1 gene polymorphisms with adolescent idiopathic scoliosis (AIS) risk.
METHODSThis study population consisted of 419 patients with AIS and 460 healthy controls. The maximum Cobb angle of AIS patients was recorded. For initial screening, the 7 tagSNPs were genotyped in 197 cases and 172 controls. Next, we validated any significant associations in additional sample of 222 cases and 288 controls. Single-marker and haplotype analysis were employed. Genotyping was performed by PCR-RFLP method.
RESULTSWe found that allele G of rs1149048 was a significant predisposition allele of AIS (P = 0.0027, OR = 1.34 within 95% CI = 1.11 approximately 1.62), and individuals with genotype GG had a higher risk for AIS compared to AA + AG (P = 0.0008, OR = 1.61 within 95% CI = 1.22 approximately 2.12). Polymorphism of rs1149048 was also associated with curve severity in AIS patients. And a significantly higher in maximum Cobb angle was found in patients with GG genotype (P = 0.002).
CONCLUSIONSIt is concluded that the tagSNP rs1149048 polymorphism in the MATN1 promoter region is associated with both susceptibility and disease severity in AIS.
