Abstract
Recently, five novel single nucleotide polymorphisms (SNPs), rs10937625 in STK32B (serine/threonine kinase 32B), rs17590046 in PPARGC1A (peroxisome proliferator-activated receptor gamma coactivator 1-alpha), and rs12764057, rs10822974, and rs7903491 in CTNNA3 (catenin alpha 3), were found to be associated with increased risk of essential tremor (ET) in a genome-wide association study (GWAS)in individuals of Caucasian ancestry. Considering the overlap between ET and Parkinson's disease (PD) in pathological features and clinical manifestations, a case-control study comprising 546 PD patients and 550 control subjects was carried out to examine whether the same variants were also associated with PD in Chinese Han population. However, the above variants did not show an association with PD. Our results suggested that these variants do not play a major role in PD in the Chinese population, Actually, the clinical overlap between PD and ET is under debate. In our Chinese Han cohort, we did not verify potential genetic pleiotropy between two diseases, which may indicated that etiology and pathobiology of PD and ET are distinct. Thus, a more comprehensive study such as a multi-center study may be helpful to evaluate the relationship between the five new susceptible loci and PD in Chinese Han population in the future.
Highlights
Parkinson’s disease (PD) is the second most common neurodegenerative disorder, and affects approximately 1.7 million individuals in China [1]
PD patients with onset age younger than 50 years old were classified into early-onset PD (EOPD) and those with onset age older than or equal to 50 years were lateonset PD (LOPD)
We found no associations between tremor dominant PD (TD) and PIGD when stratified in terms of clinical subtypes (Table S1)
Summary
Parkinson’s disease (PD) is the second most common neurodegenerative disorder, and affects approximately 1.7 million individuals (aged ≥ 65 years) in China [1]. Genome-wide association study (GWAS) is a powerful tool for genetic association studies, many GWAS-related polymorphic loci, such as single nucleotide polymorphisms (SNPs) in SNCA, GBA, and LRRK2 have been reported to be associated with the risk of PD [4,5,6,7,8]. The underline mechanisms between these two disorders are distinct [10], the overlapping clinical features suggest that PD and ET may share common risk causes such as genetic factor. The GWAS LINGO1 variant has been implicated in etiologic links between ET and PD [13]. It would be meaningful to explore whether the ET-related genetic variants are associated with PD
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