Lack of association between the promoter polymorphisms of MMP-3 and IL-6 genes and adolescent idiopathic scoliosis: a case-control study in a Chinese Han population.

Abstract

STUDY DESIGN:

Case-control study.

OBJECTIVE:

This study is to replicate the association between the promoter polymorphisms of matrix metalloproteinase (MMP)-3 (-1171 5A/6A rs3025058) and interleukin (IL)-6 genes (-174G/C rs1800795) and adolescent idiopathic scoliosis (AIS) in a Chinese Han population.

SUMMARY OF BACKGROUND DATA:

Recently, promoter polymorphisms in MMP-3 and IL-6 have been reported to be associated with AIS. Such genetic association, if confirmed by replication in other samples, would point to a primary degenerative defect in the disc or nucleus pulposus and inflammation as the key pathogenic mechanisms of AIS.

METHODS:

A total of 487 Chinese girls with AIS and 494 healthy age-matched adolescent girls were recruited consecutively during a 3-year period. The same genotyping technique as the original report was used to detect promoter polymorphisms of the MMP-3 and IL-6 genes. Statistical analysis of genotype frequencies between AIS patients and normal controls were performed by chi test.

RESULTS:

In this association study of the MMP-3 polymorphism and the risk of scoliosis, no significant difference was found between cases and controls, both in term of allelic association (6A: 81.2% in cases vs. 81.8% in controls, 5A: 18.8% in cases vs. 18.2% in controls, P = 0.745) or genotype association (6A/6A: 65.9% in cases vs. 66.2% in controls, 5A/6A: 30.6% in cases vs. 31.2% in controls, and 5A/5A: 3.5% in cases vs. 2.6% in controls; P = 0.733). Among AIS patients, the maximal Cobb angles were also not different among MMP-3 genotypes (6A/6A: 31.1 degrees +/- 9.7 degrees, 5A/6A: 29.1 degrees +/- 10.5 degrees, and 5A/5A: 29.4 degrees +/- 11.2 degrees; P = 0.392). As for IL-6 polymorphism, -174G/C polymorphism was not found in the Chinese AIS patients, and all 100 AIS patients and 100 normal controls were found to carry the G/G wild type.

CONCLUSION:

This study did not find any significant association of promoter polymorphisms of the MMP-3 (-1171 5A/6A rs3025058) and IL-6 gene (-174G/C rs1800795) with AIS. The results indicate that the MMP-3 promoter polymorphism is not associated with AIS in the Chinese population. Further studies, however, are needed to rule out the potential association with other promoter polymorphisms in IL-6.

• Authors: Zhen Liu, Nelson L S Tang, Xing-Bin Cao, Wen-Jun Liu, Xu-Sheng Qiu, Jack C Y Cheng, Yong Qiu
• Journal: Spine (Spine (Phila Pa 1976)) Vol. 35 Issue 18 Pg. 1701-5 (Aug 15 2010) ISSN: 1528-1159 [Electronic] United States
• PMID: 20436380 (Publication Type: Comparative Study, Journal Article)

Chemical References

• Interleukin-6
• Matrix Metalloproteinase 3

Topics

• Adolescent
• Asian People (genetics)
• Case-Control Studies
• Child
• China (ethnology)
• Female
• Genetic Predisposition to Disease (ethnology, genetics)
• Humans
• Interleukin-6 (genetics)
• Matrix Metalloproteinase 3 (genetics)
• Polymorphism, Genetic (genetics)
• Promoter Regions, Genetic (genetics)
• Scoliosis (enzymology, genetics, metabolism)
• Young Adult