Association of DNMT3b gene variants with sporadic Parkinson's disease in a Chinese Han population

Abstract

The results of the present study strongly suggest that DNMT3b variants are associated with PD in the Chinese Han people, especially females.

DNMT3B Functions: Novel Insights From Human Disease

“…The non-coding polymorphism rs2424913 (the T allele) was also associated with Parkinson’s Disease (PD) ( Chen et al, 2017 ; Pezzi et al, 2017 ) and with a decreased risk of developing colon cancer in Asian population ( Duan et al, 2015 ). Epidemiological studies ( Driver, 2014 ) suggest an inverse correlation between neurodegenerative disorders and cancer risk.…”

“…Genetic mutations in DNMT3B locus are observed with low frequency also in cancer. Cancer risk predisposing polymorphisms in regulatory and coding regions have been observed in a large number of studies ( Chen et al, 2017 ; Feng et al, 2018 ). For example, polymorphisms determining upregulation of gene transcription have been associated with an increased risk of developing lung cancer and head and neck carcinoma ( Shen et al, 2002 ; Liu et al, 2008 ).…”

Lack of Association Between DNMT3B Polymorphisms and Sporadic Parkinson’s Disease in a Han Chinese Population

“…In this study, we did not find any significant association between rs2424913 (DNMT3B) and PD risk in a Han Chinese population, although rs2424913 was first reported to be associated with PD risk by Pezzi et al in a Brazilian population of European ancestry [3]. As the sample size of our cohort was small, a meta-analysis was further performed by including the recently published study of Chen et al [4] in a Han Chinese population, together with our study, and no significant risk of PD was found for rs2424913 DNMT3B. The difference in results between Brazilian and Chinese cohorts may be attributable to ethnic diversity.…”

“…The difference in results between Brazilian and Chinese cohorts may be attributable to ethnic diversity. However, two other SNPs, rs2424932 and rs998382 on DNMT3B, have been reported to be significantly associated with PD in a Han Chinese population [4], particularly in the female PD subgroup. As our study did not investigate these two SNPs, we cannot exclude the possibility of an association between DNMT3B and the risk of PD.…”

“…Two studies [3,4] have investigated the association between rs2424913 and PD risk in a Brazilian population of European ancestry and a South Chinese Han population. The latter was included in our meta-analysis.…”