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Войти в исследования GCH1 p.Ser80Asn Confers Risk for Parkinson's Disease in East Asian Populations.
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Tay Yi Wen, Lee Andrew Leslie, Schee Jie Ping, Lin Chin-Hsien, Tan Eng King, Shin Jung Hwan, Chen Pin-Shiuan, Fan Sung-Pin, Li Cheng-Hsuan, Ng Ebonne Yu Lin, Kim Han Joon, Jeon Beomseok, Koks Sulev, Vu Huyen Thi Thanh, Mok Kin Ying, Lim Yi Ting, Kamaruddin Mohd Salahuddin, Toh Tzi Shin, Ding Hans Xing, Anuar Anis Nadhirah Khairul, Ramli Norlisah, Keller Sarmiento Ignacio J, Periñan Maria Teresa, Fang Zih-Hua, Lange Lara M, Kumar Kishore R, Bardien Soraya, Trinh Joanne, Valente Enza Maria, SG10K_Health Consortium, the Global Parkinson's Genetics Program (GP2), Heutink Peter, Lohmann Katja, Klein Christine, Mencacci Niccolò E, Lim Shen-Yang, Ahmad-Annuar Azlina, Tan Ai Huey
Аннотация
OBJECTIVES: Our goal was to investigate the clinical relevance and PD risk associated with the GCH1 p.Ser80Asn variant.
METHODS: We first identified a segregating GCH1 p.Ser80Asn variant in a Malaysian Chinese PD family via whole genome sequencing (WGS). We assessed its risk association using multi-ancestry WGS data from the Global Parkinson's Genetics Program (GP2) (n = 22,372PD vs. n = 8,826Controls) and meta-analysis of East Asian (EAS) cohorts (n = 4,712PD vs. 38,733Controls). Haplotype analyses were performed and clinico-demographic details of affected variant carriers were collated.
RESULTS: The GCH1 p.Ser80Asn variant was enriched in GP2 EAS PD populations (n = 9/2,757; 0.33%), but not detected in other ancestries. Meta-analysis revealed increased PD risk in EAS populations (odds ratio = 5.1; 95% confidence intervals [CI] = 2.3-10.7; P = 2.89 × 10-5). A shared haplotype (~330 kbp) was identified among variant carriers. Affected carriers (mean age at onset: 56.3 ± 12.5 years) had additional occurrence of dystonia, whereas dementia was rare.
CONCLUSIONS: The GCH1 p.Ser80Asn variant is a rare, EAS-enriched risk variant for PD. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.