Association study between SNP rs150689919 in the DNA demethylation gene, TET1, and Parkinson's disease in Chinese Han population

作者：Liao, Xin-xin; Zhan, Zi-xiong; Luo, Ying-ying; Li, Kai; Wang, Jun-ling; Guo, Ji-feng; Yan, Xin-xiang; Xia, Kun; Tang, Bei-sha; Shen, Lu^*

来源：BMC Neurology, 2013, 13: 196.

DOI：10.1186/1471-2377-13-196

• TET1
• Parkinson's disease
• Epigenetics
• Chinese

Background: Recent studies suggest that epigenetic factors may play an important role in the pathogenesis of Parkinson's disease (PD). In our previous work, we sequenced the exomes of sixteen patients from eight Chinese PD families using whole exome sequencing technology, consequently three patients from different pedigrees were found sharing the variant c. 1460C > T (rs150689919) in the coding region of the Tet methyl cytosine dioxygenase 1 (TET1) gene. @@@ Methods: In order to evaluate the possible association between sporadic PD and the single nucleotide polymorphism (SNP) rs150689919 in TET1, a case-control cohort study was conducted in 514 sporadic PD patients and 529 normal controls. Genotyping was determined by PCR and direct sequencing. Statistical significance was analyzed by the Chi-squared test. @@@ Results: There was no statistical significance in TET1 rs150689919 genotype or allele frequencies between the PD cases and healthy controls, even after being stratified by gender and age at onset. @@@ Conclusions: Our findings suggest that rs150689919 in TET1 may not be associated with PD in Chinese population. However, due to the limited data in this study, replication studies in larger sample and other populations are required.

• 出版日期2013-12-11
• 单位中南大学