Rare SV2C coding variants in Parkinson's disease risk DOI Creative Commons

Chu Hua Chang,

Elaine Guo Yan Chew, Michelle Mulan Lian

et al.

Journal of Parkinson s Disease, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 23, 2025

Genome-wide association studies have identified SV2C as a Parkinson's disease (PD) risk locus, with common missense variant p.Asp543Asn in the synaptic vesicle glycoprotein 2C (SV2C) protein significantly associated PD. We examined if other rare variants also influence PD risk. analyzed sequencing data of 9810 East Asian individuals comprising 4298 patients and 5512 controls 55 nonsynonymous variants. There was no significant or loss-of-function Our findings show that besides p.Asp543Asn, coding do not play major role susceptibility Asia.

Language: Английский

The epidemiological risk and prevention and interventions in Parkinson's disease: from a nutrition-based perspective DOI
Fan Zhang, Yuxian Liu, Yun Zhu

et al.

Journal of Nutrition, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 1, 2025

Language: Английский

Citations

1
Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant DOI Creative Commons
Shen‐Yang Lim, Tzi Shin Toh, Jia Wei Hor

et al.

npj Parkinson s Disease, Journal Year: 2025, Volume and Issue: 11(1)

Published: Feb. 23, 2025

Language: Английский

Citations

1
Rare SV2C coding variants in Parkinson's disease risk DOI Creative Commons

Chu Hua Chang,

Elaine Guo Yan Chew, Michelle Mulan Lian

et al.

Journal of Parkinson s Disease, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 23, 2025

Genome-wide association studies have identified SV2C as a Parkinson's disease (PD) risk locus, with common missense variant p.Asp543Asn in the synaptic vesicle glycoprotein 2C (SV2C) protein significantly associated PD. We examined if other rare variants also influence PD risk. analyzed sequencing data of 9810 East Asian individuals comprising 4298 patients and 5512 controls 55 nonsynonymous variants. There was no significant or loss-of-function Our findings show that besides p.Asp543Asn, coding do not play major role susceptibility Asia.

Language: Английский

Citations

0