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6. Generalized epilepsy with febrile seizures plus: Clinical and genetic analysis of three Serbian families

Author

Ristić Aleksandar J., Janković Slavko, Annesi Grazzia, Carrideo Sara, Annesi Ferdinanda, Gambardella Antonio, Maksimović Goran, Gnjatović Brankica, Petrović Igor, Vojvodić Nikola, and Sokić Dragoslav

Subjects
genetics, inherited epilepsy, generalized epilepsy with febrile seizures plus (GEFS+), Serbian population, Medicine
Abstract

The results of clinical and genetic analysis of three Serbian families (pedigrees) with autosomal dominant inheritance, incomplete penetrance and phenotypic features of GEFS+ are presented in this study. Mutation analysis of the SCN1A, SCN1B and GABRG2 genes was performed in all affected and some unaffected members of these three families. Twentysix exons of SCN1A, five exons of SCN1B and nine exons of GABRG2 were individually amplified using primers based on intronic sequence. PCR products were sequenced in both forward and reverse directions. Subsequently, the samples were run and analyzed using 377 DNA automated sequencer. No consanguinity was noticed. The MM and OM family members live in Republic of Srpska while KS family originates from the central Serbia. No mutations of the exons of SCN1A, SCN1B and GABRG2 genes were found in tested subjects. Obligate carriers in MM family (III-1, III-2, and III-4) exhibit variable expressivity or incomplete penetrance rather than proof of polygenetic inheritance. OM pedigree follows autosomal dominant pattern despite reduced penetrance. Bilinear transmission may assume the possibility of multigenetic mode of inheritance in KS family. The fact that all affected members in three Serbian families were negative for mutations in SCN1A, SCN1B and GABRG2 genes strongly supports the hypothesis of significant genetic heterogeneity of GEFS+. Recognizing GEFS+ on clinical grounds contributes to more precise integration of this syndrome into already existing classification of epileptic syndromes.

Published
2005
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7. Thermal Liquid Biopsy (TLB) of Blood Plasma as a Potential Tool to Help in the Early Diagnosis of Multiple Sclerosis

Author

Annesi, Ferdinanda, primary, Hermoso-Durán, Sonia, additional, Rizzuti, Bruno, additional, Bruno, Rosalinda, additional, Pirritano, Domenico, additional, Petrone, Alfredo, additional, Del Giudice, Francesco, additional, Ojeda, Jorge, additional, Vega, Sonia, additional, Sanchez-Gracia, Oscar, additional, Velazquez-Campoy, Adrian, additional, Abian, Olga, additional, and Guzzi, Rita, additional

Published
2021
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8. Identification of an [Na.sub.v]1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures

Author

Mantegazza, Massimo, Gambardella, Antonio, Rusconi, Raffaella, Schiavon, Emanuele, Annesi, Ferdinanda, Cassulini, Rita Restano, Labate, Angelo, Carrideo, Sara, Chifari, Rosanna, Canevini, Maria Paola, Canger, Raffaele, Franceschetti, Silvana, Annesi, Grazia, Wanke, Enzo, and Quattrone, Aldo

Subjects
Febrile convulsions -- Health aspects, Children -- Health aspects, Children -- Research, Science and technology
Abstract

Febrile seizures (FS) affect 5-12% of infants and children up to 6 years of age. There is now epidemiological evidence that FS are associated with subsequent afebrile and unprovoked seizures in [approximately equal to] 7% of patients, which is 10 times more than in the general population. Extensive genetic studies have demonstrated that various loci are responsible for familial FS, and the FEB3 autosomal-dominant locus has been identified on chromosome 2q23-24, where the SCN1A gene is mapped. However, gene mutations causing simple FS have not been found yet. Here we show that the M145T mutation of a well conserved amino acid in the first transmembrane segment of domain I of the human [Na.sub.v]1.1 channel s-subunit cosegregates in all 12 individuals of a large Italian family affected by simple FS. Functional studies in mammalian cells demonstrate that the mutation causes a 60% reduction of current density and a 10-mV positive shift of the activation curve. Thus, M145T is a loss-of-function mutant. These results show that monogenic FS should also be considered a channelopathy. channelopathy | FEB3 locus | convulsions | epilepsy | neuronal excitability

Published
2005

10. Mutational Analysis of EFHC1 Gene in Italian Families with Juvenile Myoclonic Epilepsy

Author

Annesi, Ferdinanda, Gambardella, Antonio, Michelucci, Roberto, Bianchi, Amedeo, Marini, Carla, Canevini, Maria Paola, Capovilla, Giuseppe, Elia, Maurizio, Buti, Daniela, Chifari, Rosanna, Striano, Pasquale, Rocca, Francesca E., Castellotti, Barbara, Cali, Francesco, Labate, Angelo, LePiane, Emilio, Besana, Dante, Sofia, Vito, Tabiadon, Giulietta, Tortorella, Gaetano, Vigliano, Piernanda, Vignoli, Aglaia, Beccaria, Francesca, Annesi, Grazia, Striano, Salvatore, Aguglia, Umberto, Guerrini, Renzo, and Quattrone, Aldo

Published
2007

12. Two Novel SCN1A Missense Mutations in Generalized Epilepsy with Febrile Seizures Plus

Author

Annesi, Grazia, Gambardella, Antonio, Carrideo, Sara, Incorpora, Gemma, Labate, Angelo, Pasqua, Angela Aurora, Civitelli, Donatella, Polizzi, Agata, Annesi, Ferdinanda, Spadafora, Patrizia, Tarantino, Patrizia, Candiano, Innocenza C. Cirò, Romeo, Nelide, De Marco, Elvira Valeria, Ventura, Patrizia, LePiane, Emilio, Zappia, Mario, Aguglia, Umberto, Pavone, Lorenzo, and Quattrone, Aldo

Published
2003

13. Thermo-Plasmonic Killing of Escherichia coli TG1 Bacteria

Author

Annesi, Ferdinanda, primary, Pane, Alfredo, additional, Losso, Maria Adele, additional, Guglielmelli, Alexa, additional, Lucente, Fabrizio, additional, Petronella, Francesca, additional, Placido, Tiziana, additional, Comparelli, Roberto, additional, Guzzo, Maria Grazia, additional, Curri, Maria Lucia, additional, Bartolino, Roberto, additional, and De Sio, Luciano, additional

Published
2019
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16. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study

Author

Ross, Owen A, Soto-Ortolaza, Alexandra I, Brighina, Laura, Riess, Olaf, Klein, Christine, Djarmati, Ana, Hagenah, Johann, Lohmann, Katja, van de Loo, Simone, Abahuni, Nadine, Gispert-Sánchez, Suzana, Hilker, Rüdiger, Auburger, Georg, Van Broeckhoven, Christine, Xiromerisiou, Georgia, Tsimourtou, Vaia, Ralli, Styliani, Kountra, Persa, Markou, Katerina, Patramani, Gianna, Vogiatzi, Christina, Lynch, Tim, Gibson, J Mark, Craig, Dr David, Carr, Jonathan, Valente, Enza Maria, Ferraris, Alessandro, Bentivoglio, Anna Rita, Ialongo, Tamara, Guidubaldi, Arianna, Piano, Carla, Ferrarese, Carlo, Tarantino, Patrizia, Annesi, Ferdinanda, Chartier-Harlin, Marie-Christine, Annesi, Grazia, Quattrone, Aldo, Hattori, Nobutaka, Tomiyama, Hiroyuki, Funayama, Manabu, Yoshino, Hiroyo, Li, Yuanzhe, Imamichi, Yoko, Toda, Tatsushi, Satake, Wataru, Dardiotis, Efthimios, Aasly, J., Opala, Grzegorz, Jasinska-Myga, Barbara, Boczarska-Jedynak, Magdalena, Tan, Eng King, Bardien, Soraya, Jeon, Beom Seok, Park, Sung Sup, Kim, Yun Joong, Dickson, Dennis W, Sohn, Young Ho, Belin, Andrea Carmine, Olson, Lars, Galter, Dagmar, Westerlund, Marie, Sydow, Olof, Pedersen, Nancy L, Wirdefeldt, Karin, Nilsson, Christer, Puschmann, Andreas, Diehl, Nancy N, Wu, Ruey-Meei, Maraganore, Demetrius M, Ahlskog, Eric, de Andrade, Mariza, Lesnick, Timothy G, Rocca, Walter A, Checkoway, Harvey, Farrer, M., Elbaz, Alexis, Heckman, Michael G, Fiske, Brian, Gibson, Rachel, Hadjigeorgiou, Georgios M, Ioannidis, John P A, Jeon, Beom S, Aasly, Jan O, Kruger, Rejko, Kyratzi, Elli, Lesage, Suzanne, Lin, Chin-Hsien, Lynch, Timothy, Mellick, George D, Mutez, Eugénie, Sharma, Manu, Silburn, Peter A, Stefanis, Leonidas, Tadic, Vera, Theuns, Jessie, Uitti, Ryan J, Vassilatis, Demetrios K, Vilariño-Güell, Carles, White, Linda R, Wszolek, Zbigniew K, Farrer, Matthew J, Bacon, Justin A, Disease, Genetic Epidemiology Of Parkinson's, Sutherland, G. T., Siebert, G. A., Nuytemans, Karen, Meeus, Bram, Crosiers, David, Pickut, Barbara, Engelborghs, Sebastiaan, De Deyn, Peter P, Cras, Patrick, Rogaeve, Ekaterina, Destée, A., Agid, Y., Anheim, M., Bonnet, A-M, Borg, M., Bozi, Maria, Brice, A., Broussolle, E., Corvol, J. C., Damier, P., Dürr, A., Durif, F., Lesage, S., Lohmann, E., Pollak, P., Brice, Alexis, Rascol, O., Tison, F., Tranchant, C., Viallet, F., Vidailhet, M., Gasser, Thomas, Krüger, Rejko, Berg, Daniela, Schulte, Claudia, Ross, O, Soto Ortolaza, A, Heckman, M, Aasly, J, Abahuni, N, Annesi, G, Bacon, J, Bardien, S, Bozi, M, Brice, A, Brighina, L, Van Broeckhoven, C, Carr, J, Chartier Harlin, M, Dardiotis, E, Dickson, D, Diehl, N, Elbaz, A, Ferrarese, C, Ferraris, A, Fiske, B, Gibson, J, Gibson, R, Hadjigeorgiou, G, Hattori, N, Ioannidis, J, Jasinska Myga, B, Jeon, B, Kim, Y, Klein, C, Kruger, R, Kyratzi, E, Lesage, S, Lin, C, Lynch, T, Maraganore, D, Mellick, G, Mutez, E, Nilsson, C, Opala, G, Park, S, Puschmann, A, Quattrone, A, Sharma, M, Silburn, P, Sohn, Y, Stefanis, L, Tadic, V, Theuns, J, Tomiyama, H, Uitti, R, Valente, E, van de Loo, S, Vassilatis, D, Vilariño Güell, C, White, L, Wirdefeldt, K, Wszolek, Z, Wu, R, Farrer, M, Engelborghs, Sebastiaan, De Deyn, Peter Paul, Cras, Patrick, Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium, Pathologic Biochemistry and Physiology, and Pollak, Pierre

Subjects
Male, Polymorphism, Single Nucleotide/*genetics, International Cooperation, Ethnic Groups/genetics, Ethnic Group, Genome-wide association study, Protein-Serine-Threonine Kinase, methods [Genome-Wide Association Study], genetics [Ethnic Groups], 0302 clinical medicine, Gene Frequency, genetics [Parkinson Disease], Risk Factors, Exons/genetics, Ethnicity, Parkinson Disease/genetics, Medicine(all), Genetics, Aged, 80 and over, 0303 health sciences, Parkinson Disease, Exons, genetics [Exons], Middle Aged, Polymorphism, Single Nucleotide/genetics, Protein-Serine-Threonine Kinases, LRRK2, 3. Good health, genetics [Polymorphism, Single Nucleotide], Genome-Wide Association Study/methods, Female, Case-Control Studie, Human, Adult, Parkinson Disease/*genetics, Genotype, Adolescent, Protein-Serine-Threonine Kinases/*genetics, Protein-Serine-Threonine Kinases/genetics, Exon, Protein Serine-Threonine Kinases, Biology, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, genetics [Protein-Serine-Threonine Kinases], Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, Humans, Genetic Predisposition to Disease, ddc:610, LRRK2 protein, human, Risk factor, Allele frequency, 030304 developmental biology, Aged, Risk Factor, Case-control study, Exons/*genetics, Odds ratio, nervous system diseases, ddc:616.8, Minor allele frequency, Genetic epidemiology, Case-Control Studies, Neurology (clinical), Human medicine, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

BACKGROUND: Background The leucine-rich repeat kinase 2 gene (LRRK2) harbours highly penetrant mutations that are linked to familial parkinsonism. However, the extent of its polymorphic variability in relation to risk of Parkinson's disease (PD) has not been assessed systematically. We therefore assessed the frequency of LRRK2 exonic variants in individuals with and without PD, to investigate the role of the variants in PD susceptibility. METHODS: LRRK2 was genotyped in patients with PD and controls from three series (white, Asian, and Arab-Berber) from sites participating in the Genetic Epidemiology of Parkinson's Disease Consortium. Genotyping was done for exonic variants of LRRK2 that were identified through searches of literature and the personal communications of consortium members. Associations with PD were assessed by use of logistic regression models. For variants that had a minor allele frequency of 0.5% or greater, single variant associations were assessed, whereas for rarer variants information was collapsed across variants. FINDINGS: 121 exonic LRRK2 variants were assessed in 15 540 individuals: 6995 white patients with PD and 5595 controls, 1376 Asian patients and 962 controls, and 240 Arab-Berber patients and 372 controls. After exclusion of carriers of known pathogenic mutations, new independent risk associations were identified for polymorphic variants in white individuals (M1646T, odds ratio 1.43, 95% CI 1.15-1.78; p=0.0012) and Asian individuals (A419V, 2.27, 1.35-3.83; p=0.0011). A protective haplotype (N551K-R1398H-K1423K) was noted at a frequency greater than 5% in the white and Asian series, with a similar finding in the Arab-Berber series (combined odds ratio 0.82, 0.72-0.94; p=0.0043). Of the two previously reported Asian risk variants, G2385R was associated with disease (1.73, 1.20-2.49; p=0.0026), but no association was noted for R1628P (0.62, 0.36-1.07; p=0.087). In the Arab-Berber series, Y2189C showed potential evidence of risk association with PD (4.48, 1.33-15.09; p=0.012). INTERPRETATION: The results for LRRK2 show that several rare and common genetic variants in the same gene can have independent effects on disease risk. LRRK2, and the pathway in which it functions, is important in the cause and pathogenesis of PD in a greater proportion of patients with this disease than previously believed. These results will help discriminate those patients who will benefit most from therapies targeted at LRRK2 pathogenic activity. FUNDING: Michael J Fox Foundation and National Institutes of Health. Lancet Neurol

Published
2011

17. Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

Author

Elbaz, Alexis, Ross, Owen A, Destée, Alain, Ferrarese, Carlo, Ferraris, Alessandro, Gibson, J Mark, Gispert, Suzana, Hadjigeorgiou, Georgios M, Jasinska-Myga, Barbara, Klein, Christine, Krüger, Rejko, Lambert, Jean-Charles, Ioannidis, John P A, Lohmann, Katja, van de Loo, Simone, Loriot, Marie-Anne, Lynch, Timothy, Mellick, George D, Mutez, Eugénie, Nilsson, Christer, Opala, Grzegorz, Puschmann, Andreas, Quattrone, Aldo, Soto-Ortolaza, Alexandra I, Sharma, Manu, Silburn, Peter A, Stefanis, Leonidas, Uitti, Ryan J, Valente, Enza Maria, Vilariño-Güell, Carles, Wirdefeldt, Karin, Wszolek, Zbigniew K, Xiromerisiou, Georgia, Maraganore, Demetrius M, Moisan, Frédéric, Farrer, Matthew J, Disease, Genetic Epidemiology of Parkinson's, Amouyel, Philippe, Tzourio, Christophe, Mulot, Claire, Bacon, Justin A, Cobb, Stephanie A, Sutherland, Greg T, Siebert, Gerhard A, Dissanayaka, Nadeeka, Aasly, Jan, O'Sullivan, John D, Boyle, Richard S, Pasquier, Florence, Bordet, Régis, Legendre, Jean-Philippe, Auburger, Georg, Hilker, Rüdiger, Abahuni, Nadine, Geisen, Christof, Winkler, Susen, Annesi, Grazia, Gasser, Thomas, Riess, Olaf, Berg, Daniela, Schulte, Claudia, Vassilatis, Demitris, Stamboulis, Eleftherios, Dardiotis, Efthimios, Patramani, Ioanna, Kountra, Persa-Maria, Vogiatzi, Christina, Bozi, Maria, Markou, Katerina, Tarantino, Patrizia, Annesi, Ferdinanda, Bentivoglio, Anna Rita, Guidubaldi, Arianna, Caccialupi, Matilde, De Nigris, Francesca, Riva, Chiara, Pedersen, Nancy L, Nilsson, Karin, Brighina, Laura, Reimer, Jan, Van Gerpen, Jay, Lash, Jennifer, Searcy, Jill, Strongosky, Audrey, Chartier-Harlin, Marie-Christine, Elbaz, A, Ross, O, Ioannidis, J, Soto Ortolaza, A, Moisan, F, Aasly, J, Annesi, G, Bozi, M, Brighina, L, Chartier Harlin, M, Destée, A, Ferrarese, C, Ferraris, A, Gibson, J, Gispert, S, Hadjigeorgiou, G, Jasinska Myga, B, Klein, C, Krüger, R, Lambert, J, Lohmann, K, van de Loo, S, Loriot, M, Lynch, T, Mellick, G, Mutez, E, Nilsson, C, Opala, G, Puschmann, A, Quattrone, A, Sharma, M, Silburn, P, Stefanis, L, Uitti, R, Valente, E, Vilariño Güell, C, Wirdefeldt, K, Wszolek, Z, Xiromerisiou, G, Maraganore, D, and Farrer, M

Subjects
Adult, Male, Parkinson Disease/*genetics, Logistic Model, Polymorphism, Single Nucleotide/*genetics, Single-nucleotide polymorphism, Genome-wide association study, MAPT protein, human, tau Proteins, Biology, alpha-Synuclein/*genetics, Polymorphism, Single Nucleotide, Article, Gene interaction, genetics [Parkinson Disease], Retrospective Studie, Genotype, Odds Ratio, SNP, Humans, genetics, Genetic Predisposition to Disease, ddc:610, SNCA protein, human, Age of Onset, Retrospective Studies, Aged, Genetics, Aged, 80 and over, Haplotype, tau Protein, Parkinson Disease, Middle Aged, genetics [tau Proteins], Settore MED/26 - NEUROLOGIA, Logistic Models, Neurology, Genetic epidemiology, Case-Control Studies, Multiple comparisons problem, genetics [Polymorphism, Single Nucleotide], genetics [alpha-Synuclein], alpha-Synuclein, Female, Neurology (clinical), tau Proteins/*genetics, Case-Control Studie, Human
Abstract

Objective: We studied the independent and joint effects of the genes encoding alpha-synuclein (SNCA) and microtubule-associated protein tau (MAPT) in Parkinson disease (PD) as part of a large meta-analysis of individual data from case-control studies participating in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) consortium. Methods: Participants of Caucasian ancestry were genotyped for a total of 4 SNCA (rs2583988, rs181489, rs356219, rs11931074) and 2 MAPT (rs1052553, rs242557) single nucleotide polymorphism (SNPs). Individual and joint effects of SNCA and MAPT SNPs were investigated using fixed- and random-effects logistic regression models. Interactions were studied on both a multiplicative and an additive scale, and using a case-control and case-only approach. Results: Fifteen GEO-PD sites contributed a total of 5,302 cases and 4,161 controls. All 4 SNCA SNPs and the MAPT H1-haplotype-defining SNP (rs1052553) displayed a highly significant marginal association with PD at the significance level adjusted for multiple comparisons. For SNCA, the strongest associations were observed for SNPs located at the 30 end of the gene. There was no evidence of statistical interaction between any of the 4 SNCA SNPs and rs1052553 or rs242557, neither on the multiplicative nor on the additive scale. Interpretation: This study confirms the association between PD and both SNCA SNPs and the H1 MAPT haplotype. It shows, based on a variety of approaches, that the joint action of variants in these 2 loci is consistent with independent effects of the genes without additional interacting effects. ANN NEUROL 2011; 69: 778-792

Published
2011

18. Plasmonics Meets Biology through Optics

Author

De Sio, Luciano, primary, Caracciolo, Giulio, additional, Annesi, Ferdinanda, additional, Placido, Tiziana, additional, Pozzi, Daniela, additional, Comparelli, Roberto, additional, Pane, Alfredo, additional, Curri, Maria, additional, Agostiano, Angela, additional, and Bartolino, Roberto, additional

Published
2015
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20. Identification of an Na v 1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures

Author

Mantegazza, Massimo, primary, Gambardella, Antonio, additional, Rusconi, Raffaella, additional, Schiavon, Emanuele, additional, Annesi, Ferdinanda, additional, Cassulini, Rita Restano, additional, Labate, Angelo, additional, Carrideo, Sara, additional, Chifari, Rosanna, additional, Canevini, Maria Paola, additional, Canger, Raffaele, additional, Franceschetti, Silvana, additional, Annesi, Grazia, additional, Wanke, Enzo, additional, and Quattrone, Aldo, additional

Published
2005
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21. Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.

Author

Mantegazza, Massimo, Gambardella, Antonio, Rusconi, Raffaella, Schiavon, Emanuele, Annesi, Ferdinanda, Cassulini, Rita Restano, Labate, Angelo, Carrideo, Sara, Chifari, Rosanna, Canevini, Maria Paola, Canger, Raffaele, Franceschetti, Silvana, Annesi, Grazia, Wanke, Enzo, and Quattrone, Aldo

Subjects
FEBRILE seizures, CELL nuclei, ION channels, SODIUM channels, AMINO acids, ORGANIC acids
Abstract

Febrile seizures (FS) affect 5-12% of infants and children up to 6 years of age. There is now epidemiological evidence that FS are associated with subsequent afebrile and unprovoked seizures in ≈7% of patients, which is 10 times more than in the general population. Extensive genetic studies have demonstrated that various loci are responsible for familial FL and the FEB3 autosomal-dominant locus has been identified on chromosome 2q23-24, where the SCN1A gene is mapped. However, gene mutations causing simple FS have not been found yet Here we show that the M145T mutation of a well conserved amino acid in the first transmembrane segment of domain I of the human Nav1.1 channel a-subunit cosegregates in all 12 individuals of a large italian family affected by simple FS. Functional studies in mammalian cells demonstrate that the mutation causes a 60% reduction of current density and a 10-mV positive shift of the activation curve. Thus, M145T is a loss-of-function mutant. These results show that monogenic FS should also be considered a channelopathy. [ABSTRACT FROM AUTHOR]

Published
2005
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22. Large-scale replication and heterogeneity in Parkinson disease genetic loci

Author

Sharma, Manu, Ioannidis, John P A, Facheris, Maurizio, Klein, Christine, Djarmati, Ana, Hagenah, Johann, Lohmann, Katja, Auburger, Georg, Hilker, Rüdiger, van de Loo, Simone, Dardiotis, Efthimios, Tsimourtou, Vaia, Ralli, Styliani, Farrer, Matthew, Kountra, Persa, Patramani, Gianna, Vogiatzi, Cristina, Hattori, Nobutaka, Tomiyama, Hiroyuki, Funayama, Manabu, Yoshino, Hiroyo, Li, Yuanzhe, Imamichi, Yoko, Toda, Tatsushi, Garraux, Gaetan, Satake, Wataru, Lynch, Tim, Gibson, J Mark, Valente, Enza Maria, Ferraris, Alessandro, Dallapiccola, Bruno, Ialongo, Tamara, Brighina, Laura, Corradi, Barbara, Piolti, Roberto, Gispert, Suzana, Tarantino, Patrizia, Annesi, Ferdinanda, Jeon, Beom S, Park, Sung-Sup, Aasly, J., Opala, Grzegorz, Jasinska-Myga, Barbara, Klodowska-Duda, Gabriela, Boczarska-Jedynak, Magdalena, Tan, Eng King, Belin, Andrea Carmine, Olson, Lars, Galter, Dagmar, Westerlund, Marie, Sydow, Olof, Nilsson, Christer, Puschmann, Andreas, Lin, J. J., Maraganore, Demetrius M, Ahlskog, J Eric, Vilariño-Güell, Carles, de Andrade, Mariza, Lesnick, Timothy G, Rocca, Walter A, Checkoway, Harvey, Ross, Owen A, Wszolek, Zbigniew K, Uitti, Ryan J, Hadjigeorgiou, Georgios M, Hicks, Andrew A, Jeon, Beom, Aasly, Jan O, Lesage, Suzanne, Lill, Christina M, Lin, Juei-Jueng, Lynch, Timothy, Lichtner, Peter, Lang, Anthony E, Mok, Vincent, Mellick, George D, Morrison, Karen E, Annesi, Grazia, Pramstaller, Peter P, Pichler, Irene, Park, Sung Sup, Quattrone, Aldo, Rogaeva, Ekaterina, Stefanis, Leonidas, Stockton, Joanne D, Brice, Alexis, Silburn, Peter A, Theuns, Jessie, Tan, Eng-King, Wirdefeldt, Karin, Wszolek, Zbigniew, Xiromerisiou, Georgia, Yueh, Kuo-Chu, Van Broeckhoven, Christine, Zhao, Yi, Gasser, Thomas, Maraganore, Demetrius, Krüger, Rejko, Consortium, GEO-PD, Boyle, R. S., Sellbach, A., O'Sullivan, J. D., Sutherland, G. T., Siebert, G. A., Bertram, Lars, Dissanayaka, N. N. W., Crosiers, David, Pickut, Barbara, Engelborghs, Sebastiaan, Meeus, Bram, De Deyn, Peter P, Cras, Patrick, Bozi, Maria, Agid, Y., Anheim, M., Bonnet, A-M, Borg, M., Brice, A., Broussolle, E., Corvol, J. C., Damier, P., Destée, A., Dürr, A., Durif, F., Lesage, S., Lohmann, E., Pollak, P., Rascol, O., Tison, F., Tranchant, C., Viallet, F., Vidailhet, M., Clarke, Carl, Tzourio, Christophe, Amouyel, Philippe, Loriot, Marie-Anne, Mutez, Eugénie, Duflot, Aurélie, Legendre, Jean-Philippe, Waucquier, Nawal, Riess, Olaf, Berg, Daniela, Schulte, Claudia, Pathologic Biochemistry and Physiology, Pollak, Pierre, De Deyn, Peter Paul, and GEO-PD Consortium

Subjects
Male, Genotype, Single-nucleotide polymorphism, Genome-wide association study, Case-control studies, Biology, Polymorphism, Single Nucleotide, Gene Frequency, genetics [Parkinson Disease], Humans, Genetic Predisposition to Disease, ddc:610, Allele, Parkinson Disease/genetics, Allele frequency, Alleles, Genetic association, Aged, Genetics, Medicine(all), Case-control study, Parkinson Disease, Odds ratio, Middle Aged, ddc:616.8, Genetic epidemiology, Genetic Loci, Case-Control Studies, Female, Neurology (clinical), Human medicine, Genome-Wide Association Study
Abstract

Objective: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which these genetic effects are consistent across different populations is unknown. Methods: Investigators from the Genetic Epidemiology of Parkinson9s Disease Consortium were invited to participate in the study. A total of 11 SNPs were genotyped in 8,750 cases and 8,955 controls. Fixed as well as random effects models were used to provide the summary risk estimates for these variants. We evaluated between-study heterogeneity and heterogeneity between populations of different ancestry. Results: In the overall analysis, single nucleotide polymorphisms (SNPs) in 9 loci showed significant associations with protective per-allele odds ratios of 0.78–0.87 ( LAMP3 , BST1 , and MAPT ) and susceptibility per-allele odds ratios of 1.14–1.43 ( STK39 , GAK , SNCA , LRRK2 , SYT11 , and HIP1R ). For 5 of the 9 replicated SNPs there was nominally significant between-site heterogeneity in the effect sizes ( I 2 estimates ranged from 39% to 48%). Subgroup analysis by ethnicity showed significantly stronger effects for the BST1 (rs11724635) in Asian vs Caucasian populations and similar effects for SNCA , LRRK2 , LAMP3 , HIP1R , and STK39 in Asian and Caucasian populations, while MAPT rs2942168 and SYT11 rs34372695 were monomorphic in the Asian population, highlighting the role of population-specific heterogeneity in PD. Conclusion: Our study allows insight to understand the distribution of newly identified genetic factors contributing to PD and shows that large-scale evaluation in diverse populations is important to understand the role of population-specific heterogeneity. Neurology ® 2012;79:659–667

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