A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.

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Fältnamn	Indikatorer	Metadata
000		08096naa a2201657 4500
001		oai:gup.ub.gu.se/337791
003		SwePub
008		240613s2024 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:155392572
024	7	a https://gup.ub.gu.se/publication/3377912 URI
024	7	a https://doi.org/10.1186/s13195-024-01420-z2 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1553925722 URI
040		a (SwePub)gud (SwePub)ki
041		a eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Swift, Imogen J4 aut
245	1 0	a A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.
264	1	c 2024
520		a Pathogenic heterozygous mutations in the progranulin gene (GRN) are a key cause of frontotemporal dementia (FTD), leading to significantly reduced biofluid concentrations of the progranulin protein (PGRN). This has led to a number of ongoing therapeutic trials aiming to treat this form of FTD by increasing PGRN levels in mutation carriers. However, we currently lack a complete understanding of factors that affect PGRN levels and potential variation in measurement methods. Here, we aimed to address this gap in knowledge by systematically reviewing published literature on biofluid PGRN concentrations.Published data including biofluid PGRN concentration, age, sex, diagnosis and GRN mutation were collected for 7071 individuals from 75 publications. The majority of analyses (72%) had focused on plasma PGRN concentrations, with many of these (56%) measured with a single assay type (Adipogen) and so the influence of mutation type, age at onset, sex, and diagnosis were investigated in this subset of the data.We established a plasma PGRN concentration cut-off between pathogenic mutation carriers and non-carriers of 74.8ng/mL using the Adipogen assay based on 3301 individuals, with a CSF concentration cut-off of 3.43ng/mL. Plasma PGRN concentration varied by GRN mutation type as well as by clinical diagnosis in those without a GRN mutation. Plasma PGRN concentration was significantly higher in women than men in GRN mutation carriers (p=0.007) with a trend in non-carriers (p=0.062), and there was a significant but weak positive correlation with age in both GRN mutation carriers and non-carriers. No significant association was seen with weight or with TMEM106B rs1990622 genotype. However, higher plasma PGRN levels were seen in those with the GRN rs5848 CC genotype in both GRN mutation carriers and non-carriers.These results further support the usefulness of PGRN concentration for the identification of the large majority of pathogenic mutations in the GRN gene. Furthermore, these results highlight the importance of considering additional factors, such as mutation type, sex and age when interpreting PGRN concentrations. This will be particularly important as we enter the era of trials for progranulin-associated FTD.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng
653		a Male
653		a Humans
653		a Female
653		a Progranulins
653		a genetics
653		a Frontotemporal Dementia
653		a genetics
653		a pathology
653		a Intercellular Signaling Peptides and Proteins
653		a genetics
653		a Virulence
653		a Mutation
653		a genetics
653		a Membrane Proteins
653		a genetics
653		a Nerve Tissue Proteins
653		a genetics
700	1	a Rademakers, Rosa4 aut
700	1	a Finch, NiCole4 aut
700	1	a Baker, Matt4 aut
700	1	a Ghidoni, Roberta4 aut
700	1	a Benussi, Luisa4 aut
700	1	a Binetti, Giuliano4 aut
700	1	a Rossi, Giacomina4 aut
700	1	a Synofzik, Matthis4 aut
700	1	a Wilke, Carlo4 aut
700	1	a Mengel, David4 aut
700	1	a Graff, Carolineu Karolinska Institutet4 aut
700	1	a Takada, Leonel T4 aut
700	1	a Sánchez-Valle, Raquel4 aut
700	1	a Antonell, Anna4 aut
700	1	a Galimberti, Daniela4 aut
700	1	a Fenoglio, Chiara4 aut
700	1	a Serpente, Maria4 aut
700	1	a Arcaro, Marina4 aut
700	1	a Schreiber, Stefanie4 aut
700	1	a Vielhaber, Stefan4 aut
700	1	a Arndt, Philipp4 aut
700	1	a Santana, Isabel4 aut
700	1	a Almeida, Maria Rosario4 aut
700	1	a Moreno, Fermín4 aut
700	1	a Barandiaran, Myriam4 aut
700	1	a Gabilondo, Alazne4 aut
700	1	a Stubert, Johannes4 aut
700	1	a Gómez-Tortosa, Estrella4 aut
700	1	a Agüero, Pablo4 aut
700	1	a Sainz, M José4 aut
700	1	a Gohda, Tomohito4 aut
700	1	a Murakoshi, Maki4 aut
700	1	a Kamei, Nozomu4 aut
700	1	a Kittel-Schneider, Sarah4 aut
700	1	a Reif, Andreas4 aut
700	1	a Weigl, Johannes4 aut
700	1	a Jian, Jinlong4 aut
700	1	a Liu, Chuanju4 aut
700	1	a Serrero, Ginette4 aut
700	1	a Greither, Thomas4 aut
700	1	a Theil, Gerit4 aut
700	1	a Lohmann, Ebba4 aut
700	1	a Gazzina, Stefano4 aut
700	1	a Bagnoli, Silvia4 aut
700	1	a Coppola, Giovanni4 aut
700	1	a Bruni, Amalia4 aut
700	1	a Quante, Mirja4 aut
700	1	a Kiess, Wieland4 aut
700	1	a Hiemisch, Andreas4 aut
700	1	a Jurkutat, Anne4 aut
700	1	a Block, Matthew S4 aut
700	1	a Carlson, Aaron M4 aut
700	1	a Bråthen, Geir4 aut
700	1	a Sando, Sigrid Botne4 aut
700	1	a Grøntvedt, Gøril Rolfseng4 aut
700	1	a Lauridsen, Camilla4 aut
700	1	a Heslegrave, Amanda4 aut
700	1	a Heller, Carolin4 aut
700	1	a Abel, Emily4 aut
700	1	a Gómez-Núñez, Alba4 aut
700	1	a Puey, Roger4 aut
700	1	a Arighi, Andrea4 aut
700	1	a Rotondo, Enmanuela4 aut
700	1	a Jiskoot, Lize C4 aut
700	1	a Meeter, Lieke H H4 aut
700	1	a Durães, João4 aut
700	1	a Lima, Marisa4 aut
700	1	a Tábuas-Pereira, Miguel4 aut
700	1	a Lemos, João4 aut
700	1	a Boeve, Bradley4 aut
700	1	a Petersen, Ronald C4 aut
700	1	a Dickson, Dennis W4 aut
700	1	a Graff-Radford, Neill R4 aut
700	1	a LeBer, Isabelle4 aut
700	1	a Sellami, Leila4 aut
700	1	a Lamari, Foudil4 aut
700	1	a Clot, Fabienne4 aut
700	1	a Borroni, Barbara4 aut
700	1	a Cantoni, Valentina4 aut
700	1	a Rivolta, Jasmine4 aut
700	1	a Lleó, Alberto4 aut
700	1	a Fortea, Juan4 aut
700	1	a Alcolea, Daniel4 aut
700	1	a Illán-Gala, Ignacio4 aut
700	1	a Andres-Cerezo, Lucie4 aut
700	1	a Van Damme, Philip4 aut
700	1	a Clarimon, Jordi4 aut
700	1	a Steinacker, Petra4 aut
700	1	a Feneberg, Emily4 aut
700	1	a Otto, Markus4 aut
700	1	a van der Ende, Emma L4 aut
700	1	a van Swieten, John C4 aut
700	1	a Seelaar, Harro4 aut
700	1	a Zetterberg, Henrik,d 1973u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry4 aut0 (Swepub:gu)xzethe
700	1	a Sogorb-Esteve, Aitana4 aut
700	1	a Rohrer, Jonathan D4 aut
710	2	a Karolinska Institutetb Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi4 org
773	0	t Alzheimer's Research & Therapyg 16:1q 16:1x 1758-9193
856	4 8	u https://gup.ub.gu.se/publication/337791
856	4 8	u https://doi.org/10.1186/s13195-024-01420-z
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:155392572

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By the author/editor: Swift, Imogen J; Rademakers, Rosa; Finch, NiCole; Baker, Matt; Ghidoni, Roberta; Benussi, Luisa; show more...; Binetti, Giulian ...; Rossi, Giacomina; Synofzik, Matthi ...; Wilke, Carlo; Mengel, David; Graff, Caroline; Takada, Leonel T; Sánchez-Valle, R ...; Antonell, Anna; Galimberti, Dani ...; Fenoglio, Chiara; Serpente, Maria; Arcaro, Marina; Schreiber, Stefa ...; Vielhaber, Stefa ...; Arndt, Philipp; Santana, Isabel; Almeida, Maria R ...; Moreno, Fermín; Barandiaran, Myr ...; Gabilondo, Alazn ...; Stubert, Johanne ...; Gómez-Tortosa, E ...; Agüero, Pablo; Sainz, M José; Gohda, Tomohito; Murakoshi, Maki; Kamei, Nozomu; Kittel-Schneider ...; Reif, Andreas; Weigl, Johannes; Jian, Jinlong; Liu, Chuanju; Serrero, Ginette; Greither, Thomas; Theil, Gerit; Lohmann, Ebba; Gazzina, Stefano; Bagnoli, Silvia; Coppola, Giovann ...; Bruni, Amalia; Quante, Mirja; Kiess, Wieland; Hiemisch, Andrea ...; Jurkutat, Anne; Block, Matthew S; Carlson, Aaron M; Bråthen, Geir; Sando, Sigrid Bo ...; Grøntvedt, Gøril ...; Lauridsen, Camil ...; Heslegrave, Aman ...; Heller, Carolin; Abel, Emily; Gómez-Núñez, Alb ...; Puey, Roger; Arighi, Andrea; Rotondo, Enmanue ...; Jiskoot, Lize C; Meeter, Lieke H ...; Durães, João; Lima, Marisa; Tábuas-Pereira, ...; Lemos, João; Boeve, Bradley; Petersen, Ronald ...; Dickson, Dennis ...; Graff-Radford, N ...; LeBer, Isabelle; Sellami, Leila; Lamari, Foudil; Clot, Fabienne; Borroni, Barbara; Cantoni, Valenti ...; Rivolta, Jasmine; Lleó, Alberto; Fortea, Juan; Alcolea, Daniel; Illán-Gala, Igna ...; Andres-Cerezo, L ...; Van Damme, Phili ...; Clarimon, Jordi; Steinacker, Petr ...; Feneberg, Emily; Otto, Markus; van der Ende, Em ...; van Swieten, Joh ...; Seelaar, Harro; Zetterberg, Henr ...; Sogorb-Esteve, A ...; Rohrer, Jonathan ...; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Neurosciences

Articles in the publication: Alzheimer's Rese ...

By the university: University of Gothenburg; Karolinska Institutet

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