[Association between polymorphism of Matrilin-1 gene (MATN1) with susceptibility to adolescent idiopathic scoliosis].
OBJECTIVE
To investigate the association of matrilin-1 gene polymorphisms with adolescent idiopathic scoliosis (AIS) risk.


METHODS
This 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.


RESULTS
We 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).


CONCLUSIONS
It is concluded that the tagSNP rs1149048 polymorphism in the MATN1 promoter region is associated with both susceptibility and disease severity in AIS.
Chen
Zhi-jun
ZJ
Department of Spine Surgery, Affiliated Drum Tower Hospital of Medical School, Nanjing University, Nanjing 210008, China.
Qiu
Yong
Y
Yu
Yang
Y
Wang
Bin
B
Zhu
Ze-zhang
ZZ
D000293:Adolescent; D064236:Cartilage Oligomeric Matrix Protein; D016022:Case-Control Studies; D002648:Child; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D064235:Matrilin Proteins; D020641:Polymorphism, Single Nucleotide; D012600:Scoliosis / Q000235:genetics*; D055815:Young Adult
D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; C577539:MATN1 protein, human; D064235:Matrilin Proteins; C577553:TSP5 protein, human