Endothelial Nitric Oxide Synthase Gene Polymorphism Is Associated With Perthes Disease

Objectives:This study aimed to assess the association of 27bp variable number tandem repeat(VNTR) polymorphism in intron 4 and G894T polymorphism in exon 7 of the endothelial nitric oxide synthase (eNOS) gene with Perthes disease in Chinese guangxi children, and to provide a theoretical basis for further research about the inner pathogenic mechanism.Methods:A total of 80 Perthes disease patients and 100 healthy subjects were recruited in this case-control study. Two eNOS gene polymorphisms at 27bp VNTR and G894T were genotyped using PCR-restriction fragment length polymorphism (PCR-RFLP) method followed by agarose gel electrophoresis and DNA sequencing. Allelic and genotypic frequencies were computed in both control & patient groups and appropriate statistical tests were employed.Results:All studied polymorphisms satisfied Hardy-Weinberg equilibrium. Age and sex distributions were similar between the patient and control groups. Compared to the control group, individuals with Perthes disease showed higher frequency of the ab genotype (27.5% vs.14%; OR,2.33; 95%CI,1.10-4.92;P =0.024). Perthes disease case group showed higher frequency of the heterozygous genotype (GT) than the healthy control group (35% vs.17%; OR, 2.67; 95% CI,1.33-5.36; P=0.005). Among the normal subjects, the frequency of these eNOS gene mutation in the Chinese guangxi Han population is significanily lower than the other races of Asian, Middle East and European. There were possibly exists ethic geographic diference in two eNOS gene polymorphisms at 27bp VNTR and G894T. Conclusion:The eNOS gene polymorphisms may be a risk factor for Perthes disease. The 27bp VNTR polymorphism in intron 4, G894T polymorphism in exon 7 may be involved in the etiology of Perthes disease. There are two eNOS gene polymorphisms at 27bp VNTR and G894T in the Chinese guangxi Han population. We found significant differences of these gene polymorphism among Chinese and Asian, Middle East, European. There may be diversity among different races and regions.