ABSTRACT
<p><b>OBJECTIVE</b>To investigate the association between the polymorphisms of [c.-2922(C)2-3 and IVS6+ 18insG] in the NURR1 gene and Parkinson's disease (PD) in a Han population from Sichuan province.</p><p><b>METHODS</b>PCR, allele-specific PCR (AS-PCR) and restriction fragment length polymorphism (RFLP) were used to determine the genotype of each subject.</p><p><b>RESULTS</b>The two polymorphic sites in 241 PD patients and 236 controls with matched age, gender and ethnicity were analyzed. In the IVS6+ 18insG site, the difference of genotype frequencies of 3G/3G, 3G/2G and 2G/2G was not statistically significant. However, the 3G/2G genotype frequency was significantly higher in the PD with age of onset being < 50 years than that in controls (chi (2)= 6.537, P= 0.011; OR= 1.913, 95%CI: 1.159-3.158). No significant differences were found in allele and genotype frequencies of the c.-2922(C)2-3 site in the promoter region between the PD and controls (P= 0.766).</p><p><b>CONCLUSION</b>This study suggested that the IVS6+ 18insG polymorphism may be associated with genetic susceptibility of PD with age of onset being < 50 years and the c.-2922(C)2-3 site in the promoter region may not be a risk factor for PD in authors' patient group.</p>