A Study On Association Of Mitochondrial DNA Polymorphism And Haplogroups With The Risk Of Sporadic Parkinson’s Disease In Han Chinese

Objectives:1. Mitochondrial DNA polymorphisms and haplogroups were reported to modify therisk of Parkinson’s disease (PD) among different populations. Here, to explore therelationship between mtDNA and PD, we analysis the distribution of mtDNAA10398G&C10400T in Han population of Fujian province, southern China.2. Analysis the distribution of mtDNA haplogroup A、B、C、D、F、G in Hanpopulation of Fujian province, southern China, aim to probe the role of mtDNA inthe pathogenesis of PD.Methods:1. According to case-control study, mtDNA A10398G&C10400T was detected bypolymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)among PD patients and controls. Simultaneously, nine single-nucleotidepolymorphisms (SNPs) were genotyped to define the major Asian mtDNAhaplogroups (Haplogroup A、B、C、D、F、G) in279patients with sporadic PDand510(age-and gender-) matched control subjects from Han nationality in thesouth of China. Several samples were chosen randomly and sequenced directly toverify the results.2. All statistical analyses were performed using SPSS software, ver.17.0to reveal therelationship between mtDNA A10398G&C10400T, mtDNA haplogroups and therisk of PD. In addition, we probed into the association between mtDNAA10398G&C10400T, haplogroups and the clinic manifestation of PD.Results:1. Overall, the frequency of mtDNA A10398G&C10400T did not have anysignificant differences between PD patients and the controls (46.2%vs.44.7%, χ~2=0.171, P=0.680).2. After stratification by age at onset (AAO), the frequency of mtDNA haplogroup Bwas significantly lower in patients with early-onset Parkinson’s disease (EOPD)comparing to matched controls (7.9%vs.26.3%; χ~2=8.665, P=0.003; OR=0.225,95%CI:0.082-0.619, P=0.004).3. In addition, among subjects younger than50years old, mtDNA haplogroup B alsoshowed a lower frequency in PD cases (6.3%vs.25.4%; χ~2=5.066, P=0.024;OR=0.146,95%CI:0.030-0.715, P=0.018) while haplogroup D presented a higherrisk for PD (28.1%vs.9.5%; χ~2=5.522, P=0.019; OR=3.579,95%CI:1.112-11.523, P=0.033).4. The distribution of mtDNA haplogroups A、C、F and G in PD group did not differfrom controls.5. No difference was found among carreries of mtDNA A10398G&C10400T or anyhaplogoups in the onset age, disease course, UPDRS or H-Y staging.Conclusions：1. Overall, we failed to find any association between mtDNA A10398G&C10400Tand the risk of PD in southern Han Chinese.2. Our study suggests that mtDNA haplogroup B confers a protective effect fromEOPD in southern Han Chinese.3. MtDNA haplogroup D relates to a higher risk of developing PD in southern HanChinese younger than50years old.4. In our data, mtDNA haplogroups A、C、F and G appear no relationship with therisk of PD among southern Han Chinese.5. MtDNA A10398G&C10400T and haplogourps A、B、C、D、F、G do not relateto the clinic phenotype of PD.