OBJECTIVETo 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.

METHODSPCR, allele-specific PCR (AS-PCR) and restriction fragment length polymorphism (RFLP) were used to determine the genotype of each subject.

RESULTSThe 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).

CONCLUSIONThis 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.

Adult ; Age of Onset ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Case-Control Studies ; DNA-Binding Proteins ; genetics ; Ethnic Groups ; genetics ; Female ; Gene Frequency ; Genotype ; Humans ; Male ; Middle Aged ; Nuclear Receptor Subfamily 4, Group A, Member 2 ; Parkinson Disease ; genetics ; pathology ; Polymorphism, Genetic ; Sex Factors ; Transcription Factors ; genetics