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@ARTICLE{Rizig:265764,
author = {Rizig, Mie and Bandres-Ciga, Sara and Makarious, Mary B and
Ojo, Oluwadamilola Omolara and Crea, Peter Wild and Abiodun,
Oladunni Victoria and Levine, Kristin S and Abubakar, Sani
Atta and Achoru, Charles Obiora and Vitale, Dan and Adeniji,
Olaleye Akinmola and Agabi, Osigwe Paul and Koretsky, Mathew
J and Agulanna, Uchechi and Hall, Deborah A and Akinyemi,
Rufus Olusola and Xie, Tao and Ali, Mohammed Wulgo and
Shamim, Ejaz A and Ani-Osheku, Ifeyinwa and Padmanaban,
Mahesh and Arigbodi, Ohwotemu Michael and Standaert, David G
and Bello, Abiodun Hamzat and Dean, Marissa N and Erameh,
Cyril Oshomah and Elsayed, Inas and Farombi, Temitope Hannah
and Okunoye, Olaitan and Fawale, Michael Bimbola and
Billingsley, Kimberley J and Imarhiagbe, Frank Aiwansoba and
Jerez, Pilar Alvarez and Iwuozo, Emmanuel Uzodinma and
Baker, Breeana and Komolafe, Morenikeji Adeyoyin and Malik,
Laksh and Nwani, Paul Osemeke and Daida, Kensuke and Nwazor,
Ernest Okwundu and Miano-Burkhardt, Abigail and Nyandaiti,
Yakub Wilberforce and Fang, Zih-Hua and Obiabo, Yahaya
Olugbo and Kluss, Jillian H and Odeniyi, Olanike Adedoyin
and Hernandez, Dena G and Odiase, Francis Ehidiamen and
Tayebi, Nahid and Ojini, Francis Ibe and Sidranksy, Ellen
and Onwuegbuzie, Gerald Awele and D'Souza, Andrea M and
Osaigbovo, Godwin Osawaru and Berhe, Bahafta and Osemwegie,
Nosakhare and Reed, Xylena and Oshinaike, Olajumoke Olufemi
and Leonard, Hampton L and Otubogun, Folajimi Morenikeji and
Alvarado, Chelsea X and Oyakhire, Shyngle Imiewan and
Ozomma, Simon Izuchukwu and Samuel, Sarah Chabiri and Taiwo,
Funmilola Tolulope and Wahab, Kolawole Wasiu and Zubair,
Yusuf Agboola and Iwaki, Hirotaka and Kim, Jonggeol Jeffrey
and Morris, Huw R and Hardy, John and Nalls, Mike A and
Heilbron, Karl and Norcliffe-Kaufmann, Lucy and Black and
Blauwendraat, Cornelis and Houlden, Henry and Singleton,
Andrew and Okubadejo, Njideka Ulunma},
collaboration = {Network, Nigeria Parkinson Disease Research and Africa,
International Parkinson's Disease Genomics Consortium and
Group, African American Connections to Parkinson's Disease
Study and Team, 23andMe Research and Program, Global
Parkinson's Genetics},
othercontributors = {Okubadejo, Njideka and Ojo, Oluwadamilola and Abiodun,
Oladunni and Achoru, Charles and Agabi, Osigwe and Agulanna,
Uchechi and Akinyemi, Rufus and Ali, Mohammed and
Ani-Osheku, Ifeyinwa and Arigbodi, Ohwotemu and Bello,
Abiodun and Erameh, Cyril and Farombi, Temitope and Fawale,
Michael and Imarhiagbe, Frank and Iwuozo, Emmanuel and
Komolafe, Morenikeji and Nwani, Paul and Nwazor, Ernest and
Nyandaiti, Yakub and Obiabo, Yahaya and Odeniyi, Olanike and
Odiase, Francis and Ojini, Francis and Onwuegbuzie, Gerald
and Osaigbovo, Godwin and Osemwegie, Nosakhare and
Oshinaike, Olajumoke and Otubogun, Folajimi and Oyakhire,
Shyngle and Ozomma, Simon and Samuel, Sarah and Taiwo,
Funmilola and Wahab, Kolawole and Zubair, Yusuf and Gams
Massi, Daniel and Gueumekane Bila Lamou, Eric and Njamnshi
Nfor, Leonard and Magnerou, Mélanie Annick and Fogang
Fogoum, Yannick and Shalash, Ali and El-FawaI, Hassan and
Khedr, Eman and Fawi, Gharib and A Eltantawi, Mohamed and
Salama, Mohamed and El-Jaafary, Shaimaa and Hamed, Sharifa
and Tafesse Mengesha, Abenet and Alemayehu Ayele, Biniyam
and Melka Oda, Dereje and Zenebe Zewde, Yared and Debebe
Gelan, Yohanesse and AkpaIu, Albert and Charway-Felli,
Augustina and Stephen Sarfo, Fred and Adjei, Patrick and
Obese, Vida and Bocoum, Abdoulaye and Koita, Abdou and Oumar
Guinto, Cheick and Coulibaly, Toumany and Maiga, Youssoufa
and Kone, Zaynab and Bell, Abiodun and Agabi, Osigwe and
Adebowale, Akintunde A and Akpekpe, John and Lyagba, Alagoma
and Wulgo, Ali Mohammed and Ani-Osheku, Ifeyinwa and
Arabambi, Babawale and Achoru, Charles and Agu, Christian
and Erameh, Cyril and Iwuozo, Emmanuel and Nwazor, Ernest
and Fawale, Michael and Otubogun, Folajimi and Odiase,
Francis and Dike, Franklin and Ishola, Ismail and Wahab,
Kolawole and Abiodun, Kehinde and Komolafe, Morenikeji and
Okubadejo, Njideka and Obiabo, Yahaya and Arigbodi, Ohwotemu
and Oshinaike, Olajumoke and Osemwegie, Nosakhare and
Ekenze, Oluchi and Ojo, Oluwadamilola and Agabi Osigwe, Paul
and Nwani, Paul and Balarabe, Salisu and Abubakar, Sani and
Williams, Uduak and Abiodun, Oladunni and Zubair, Yusuf and
Fall, Maouly and Mamadou Diop, Alassane and Hilaire
Dominique, Ewodo Touna and Mochan, Andre and Modi, Girish
and Dindayal, Saiesha and Ali Awadelkareem, Eman and
Elsayed, Inas and Dahawi, Maha and Awadelkareem, Mosab Ali
and Misbah, Sarah and Mushengez, Brighton and Kimambo,
Henrika and Msango, Leonard and Adebayo, Philip and OKeng,
Kigocha and Diekker, Marieke and URassa, Sarah and Gouider,
Riadh and Ben Djebara, Mouna and Gargouri, Amina and Kacem,
Imen and Nasri, Amina and Mrabet, Saloua and Sghaier, Ikram
and Mkada, Imen and Atadzhanov, Masharip and Chishimba,
Lorraine and Rizig, Mie and Jama, Fatumah and Okunoye,
Olaitan and Hardy, John and Houlden, Henry and Singleton,
Andrew and Nalls, Mike and Shamim, Ejaz and Jonas, Cabell
and Williamson, Jared and Hall, Deborah A and Rosenbaum,
Marc and Davis, Staci and Dean, Marissa and Cromer, Candace
and Smith, Jenna and Ruffrage, Lauren and Richardson, Joseph
and Sipma, Rebeka and Xie, Tao and Padmanaban, Manesh and
Warren, Natalie and Mercado, Tomas and Disbrow, Elizabeth
and Chauppeta, Brian and Thomas-Dean, Fermine and Toms,
Jamie and Lofton, Katelyn and Rawls, Ashley and Rizer, Kyle
and Black, Nieci and Solle, Justin and O'Grady, Alyssa and
Sherer, Todd and Fiske, Brian and Başak, A Nazlı and Tan,
Ai Huey and Noyce, Alastair and Akpalu, Albert and Espay,
Alberto and Martínez-Carrasco, Alejandro and Medina, Alex
and Zimprich, Alexander and Brice, Alexis and Karimova,
Altynay and Hernandez, Alvaro and O'Grady, Alyssa and
Illarionova, Anastasia and Quattrone, Andrea and Singleton,
Andrew B and Sobering, Andrew K and Vinuela, Angel and
Sanyaolu, Arinola and Schumacher-Schuh, Artur F and Kishore,
Asha and Ahmad-Annuar, Azlina and Al Mubarak, Bashayer and
Tang, Beisha and Pizarro Galleguillos, Benjamin and Jeon,
Beomseok and Siddiqi, Bernadette and Casey, Bradford and
Fiske, Brian and Mollenhauer, Brit and Jonas, Cabell and
Carroll, Camille and Rieder, Carlos and Pantazis, Caroline B
and Comart, Charisse and Lin, Chin-Hsien and Klein,
Christine and Bale, Claire and Shepherd, Claire E and Wegel,
Claire and Blauwendraat, Cornelis and Vitale, Dan and
Martinez-Ramirez, Daniel and Hall, Deborah and Hernandez,
Dena and Kp, Divya and Nguyen, Duan and Fon, Edward A and
Dadiotis, Efthymios and Shamim, Ejaz and Riley, Ekemini and
Iakovenko, Elena and Stafford, Ellie and Gatto, Emilia M and
Valente, Enza Maria and Vollstedt, Eva-Juliane and Faghri,
Faraz and Genc, Gencer and Xiromerisiou, Georgia and
Hadjigorgiou, Georgios and Hiu-Fai Chan, Germaine and
Arboleda, Gonzalo and Kaishibayeva, Gulnaz and Höglinger,
Günter and Leonard, Hampton and Madoev, Harutyun and
Houlden, Henry and Iwaki, Hirotaka and Chen, Honglei and Wu,
Hsiu-Chuan and Shang, Huifang and Morris, Huw R and F Mata,
Ignacio and Keller Sarmiento, Ignacio Juan and Dagklis,
Ioannis and Tarnanas, Ioannis and Aasly, Jan O and Hoenicka,
Janet and Williamson, Jared and Corvol, Jean-Christophe and
Foo, Jia Nee and Guo, Jifeng and Junker, Johanna and Hardy,
John and Carr, Jonathan and Kim, Jonggeol Jeff and Orozco,
Jorge and Jankovic, Joseph and Shulman, Joshua and Hunter,
Julie and Solle, Justin C and Murphy, Kaileigh and
Nuytemans, Karen and Kieburtz, Karl and Lohmann, Katja and
Marek, Kenneth and Mok, Kin Ying and Kumar, Kishore and
Levine, Kristin and Chahine, Lana M and Lange, Lara M and
Pihlstrøm, Lasse and Screven, Laurel and Stefanis, Leonidas
and Shulman, Lisa and Marsili, Luca and Parnetti, Lucilla
and Kuhl, Maggie and Funayama, Manabu and Sharma, Manu and
Tan, Manuela and Kauffman, Marcelo and Miranda, Marcelo and
Bustamante, Maria Leonor and Stamelou, Maria and Periñan
Tocino, Maria Teresa and Cornejo-Olivas, Mario and Dean,
Marissa and Jimenez Del Rio, Marlene and Makarious, Mary B
and Atadzhanov, Masharip and Koretsky, Mathew and
Rodriguez-Violante, Mayela and Ellis, Melina and Avenali,
Micol and Rizig, Mie and Rentería, Miguel E and
Inca-Martines, Miguel Z and Nalls, Mike A and Ibrahim
Norlinah, Mohamed and Salama, Mohamed and Umair, Muhammad
and Ip, Nancy and Louie, Naomi and Cheung, Nelson Yuk-Fai
and Mencacci, Niccolò Emanuele and Wood, Nicholas and
Williams, Nigel and Okubadejo, Njideka and Hattori, Nobutaka
and Abdul Murad, Nor Azian and Ibrahim, Norlinah Mohamed and
Okunoye, Olaitan and Ojo, Oluwadamilola and Monchi, Oury and
Öztop Çakmak, Özgür and Öztop Çakmak, Patricio Öztop
Çakmak and Lewis, Patrick Alfryn and Pastor, Pau and
Reyes-Pérez, Paula and Saffie Awad, Paula and Chana, Pedro
and Chan, Phillip and Kung, Pin-Jui and Chan, Piu and Pal,
Pramod and Lingappa Kukkle, Prashanth and Ojha, Rajeev and
Kaiyrzhanov, Rauan and Krüger, Rejko and Amouri, Rim and
Weil, Rimona and Rajan, Roopa and Alcalay, Roy and Wu,
Ruey-Meei and Borgohain, Rupam and Sassi, Samia Ben and
Khachatryan, Samson and Bandres-Ciga, Sara and El-Sadig,
Sarah and Wu, Serena and Groppa, Sergio and Azmin, Shahrul
and Lim, Shen-Yang and Ur-Rehman, Shoaib and Ertan, Sibel
and Stott, Simon and Jasaitye, Simona and Chowdhury, Sohini
and Dumanis, Sonya and Bardien, Soraya and Lubbe, Steven and
Koks, Sulev and Dey, Sumit and Xie, Tao and Foroud, Tatiana
and Fon, Ted and Beach, Thomas and Gasser, Thomas and
Anderson, Tim and Nguyen, Toan and Sherer, Todd and
Schirinzi, Tommaso and Shiraishi, Tomotaka and Pitcher, Toni
and Obese, Vida and Tumas, Vitor and Mohamed, Wael and
Kamel, Walaa A and Luo, Wei and Zhou, Xiaopu and Zewde,
Yared Z and Song, Yeajin and Wen, Yi and Wu, Yihru and Joong
Kim, Yun and Tavadyan, Zaruhi and Fang, Zih-Hua},
title = {{I}dentification of genetic risk loci and causal insights
associated with {P}arkinson's disease in {A}frican and
{A}frican admixed populations: a genome-wide association
study.},
journal = {The lancet},
volume = {22},
number = {11},
issn = {1474-4422},
address = {London},
publisher = {Lancet Publ. Group},
reportid = {DZNE-2023-01035},
pages = {1015 - 1025},
year = {2023},
abstract = {An understanding of the genetic mechanisms underlying
diseases in ancestrally diverse populations is an important
step towards development of targeted treatments. Research in
African and African admixed populations can enable mapping
of complex traits, because of their genetic diversity,
extensive population substructure, and distinct linkage
disequilibrium patterns. We aimed to do a comprehensive
genome-wide assessment in African and African admixed
individuals to better understand the genetic architecture of
Parkinson's disease in these underserved populations.We
performed a genome-wide association study (GWAS) in people
of African and African admixed ancestry with and without
Parkinson's disease. Individuals were included from several
cohorts that were available as a part of the Global
Parkinson's Genetics Program, the International Parkinson's
Disease Genomics Consortium Africa, and 23andMe. A diagnosis
of Parkinson's disease was confirmed clinically by a
movement disorder specialist for every individual in each
cohort, except for 23andMe, in which it was self-reported
based on clinical diagnosis. We characterised
ancestry-specific risk, differential haplotype structure and
admixture, coding and structural genetic variation, and
enzymatic activity.We included 197 918 individuals (1488
cases and 196 430 controls) in our genome-wide analysis. We
identified a novel common risk factor for Parkinson's
disease (overall meta-analysis odds ratio for risk of
Parkinson's disease 1·58 $[95\%$ CI 1·37-1·80], p=2·397
× 10-14) and age at onset at the GBA1 locus, rs3115534-G
(age at onset β=-2·00 [SE=0·57], p=0·0005, for African
ancestry; and β=-4·15 [0·58], p=0·015, for African
admixed ancestry), which was rare in non-African or
non-African admixed populations. Downstream short-read and
long-read whole-genome sequencing analyses did not reveal
any coding or structural variant underlying the GWAS signal.
The identified signal seems to be associated with decreased
glucocerebrosidase activity.Our study identified a novel
genetic risk factor in GBA1 in people of African ancestry,
which has not been seen in European populations, and it
could be a major mechanistic basis of Parkinson's disease in
African populations. This population-specific variant exerts
substantial risk on Parkinson's disease as compared with
common variation identified through GWAS and it was found to
be present in $39\%$ of the cases assessed in this study.
This finding highlights the importance of understanding
ancestry-specific genetic risk in complex diseases, a
particularly crucial point as the Parkinson's disease field
moves towards targeted treatments in clinical trials. The
distinctive genetics of African populations highlights the
need for equitable inclusion of ancestrally diverse groups
in future trials, which will be a valuable step towards
gaining insights into novel genetic determinants underlying
the causes of Parkinson's disease. This finding opens new
avenues towards RNA-based and other therapeutic strategies
aimed at reducing lifetime risk of Parkinson's disease.The
Global Parkinson's Genetics Program, which is funded by the
Aligning Science Across Parkinson's initiative, and The
Michael J Fox Foundation for Parkinson's Research.},
keywords = {Parkinson Disease: ethnology / Humans / Parkinson Disease:
genetics / Genome-Wide Association Study / Genetic Loci /
Linkage Disequilibrium / Black People: genetics /
Polymorphism, Single Nucleotide: genetics / Genetic
Predisposition to Disease: genetics / African People:
genetics / GBA protein, human (NLM Chemicals)},
cin = {AG Heutink},
ddc = {610},
cid = {I:(DE-2719)1210002},
pnm = {354 - Disease Prevention and Healthy Aging (POF4-354)},
pid = {G:(DE-HGF)POF4-354},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:37633302},
pmc = {pmc:PMC10593199},
doi = {10.1016/S1474-4422(23)00283-1},
url = {https://pub.dzne.de/record/265764},
}
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