The association of gene promoter polymorphisms with Alzheimer's disease risk in Chinese Han population.

AIM

The objective of this study was to explore the genetic association of myeloperoxidase () gene polymorphisms with risk of Alzheimer's disease (AD).

METHODS

Blood samples were collected from 116 AD patients and 134 age and gender matched healthy individuals. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was utilized to confirm polymorphisms in promoter region. Plasma concentration of MPO was detected by enzyme-linked immuno sorbent assay. Genotype distributions of polymorphisms were compared by χ test between the two groups. The status of linkage disequilibrium between two polymorphisms was detected using Haploview. MPO concentrations were analyzed by non-parametric test.

RESULTS

rs2333227 polymorphism was positively associated with AD risk, especially under the AA+GA vs. GG and A vs. G genetic models (=0.042, OR=1.719, 95%CI=1.017-2.906; =0.041, OR=1.582, 95%CI=1.016-2.463). While, rs34097845 polymorphism significantly decreased the risk of AD, particularly GA and AA+GA genotypes (=0.048, OR=0.555, 95%CI=0.308-0.998; =0.042, OR=0.552, 95%CI=0.310-0.983). In addition, rs2333227 genotypes affected the plasma concentration of MPO. But for rs34097845 polymorphism, only GA genotype exhibited significant association with MPO concentration.

CONCLUSION

Polymorphisms in the promoter region of distinctly contribute to AD risk possibly through regulating MPO concentration. Present results should be confirmed by further studies.