BACKGROUND: Genetic variation in the glucocerebrosidase (GBA) gene is strongly associated with Parkinson's disease (PD). Transport of glucocerebrosidase to the lysosome involves the protein encoded by the SCARB2 gene. An association between the common SNP rs6812193, upstream of SCARB2, and PD has been reported previously. The role of exonic variants in the SCARB2 gene in PD has not been examined. METHODS: We studied the role of exonic variants in SCARB2 and tried to replicate the association between the SNP rs6812193 and PD in a German and Austrian sample. Screening of all SCARB2 exons by high-resolution melting curve analysis was performed in 376 German PD patients. The SNP rs6812193 was analyzed in 984 PD patients and 1014 general population controls. RESULTS: We identified no novel exonic variants in SCARB2 but confirmed the association between SNP rs6812193 and PD (OR, 0.86; P=.02).
BACKGROUND: Genetic variation in the glucocerebrosidase (GBA) gene is strongly associated with Parkinson's disease (PD). Transport of glucocerebrosidase to the lysosome involves the protein encoded by the SCARB2 gene. An association between the common SNP rs6812193, upstream of SCARB2, and PD has been reported previously. The role of exonic variants in the SCARB2 gene in PD has not been examined. METHODS: We studied the role of exonic variants in SCARB2 and tried to replicate the association between the SNP rs6812193 and PD in a German and Austrian sample. Screening of all SCARB2 exons by high-resolution melting curve analysis was performed in 376 German PDpatients. The SNP rs6812193 was analyzed in 984 PDpatients and 1014 general population controls. RESULTS: We identified no novel exonic variants in SCARB2 but confirmed the association between SNP rs6812193 and PD (OR, 0.86; P=.02).
Authors: Michelle Rothaug; Friederike Zunke; Joseph R Mazzulli; Michaela Schweizer; Hermann Altmeppen; Renate Lüllmann-Rauch; Wouter W Kallemeijn; Paulo Gaspar; Johannes M Aerts; Markus Glatzel; Paul Saftig; Dimitri Krainc; Michael Schwake; Judith Blanz Journal: Proc Natl Acad Sci U S A Date: 2014-10-14 Impact factor: 11.205
Authors: Yvette C Wong; Kelvin Luk; Kerry Purtell; Samuel Burke Nanni; A Jon Stoessl; Louis-Eric Trudeau; Zhenyu Yue; Dimitri Krainc; Wolfgang Oertel; Jose A Obeso; Laura A Volpicelli-Daley Journal: Mov Disord Date: 2019-09-04 Impact factor: 10.338