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Sökning: onr:"20697959" > A genetic associati...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004855caa a22008533a 4500
00120697959
003SE-LIBR
00520221107094043.0
007cr ||| |||||
008170419s2017 sw |||||o|||||000 ||eng|c
0247 a http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1337002 uri
0247 a urn:nbn:se:umu:diva-1337002 urn
0247 a 10.1016/ibbi.2016.11.0262 doi
040 a Se a
041 a eng
042 9 EPLK
1001 a Athanasiu, Lavinia4 aut
2451 0a A genetic association study of CSMD1 and CSMD2 with cognitive functionh [Elektronisk resurs]
264 1c 2017
500 a Published
5060 a gratis
520 a The complement cascade plays a role in synaptic pruning and synaptic plasticity, which seem to be involved in cognitive functions and psychiatric disorders. Genetic variants in the closely related CSMD1 and CSMD2 genes, which are implicated in complement regulation, are associated with schizophrenia. Since patients with schizophrenia often show cognitive impairments, we tested whether variants in CSMD1 and CSMD2 are also associated with cognitive functions per se. We took a discovery-replication approach, using well-characterized Scandinavian cohorts. A total of 1637 SNPs in CSMD1 and 206 SNPs in CSMD2 were tested for association with cognitive functions in the NCNG sample (Norwegian Cognitive NeuroGenetics; n = 670). Replication testing of SNPs with p-value < 0.001 (7 in CSMD1 and 3 in CSMD2) was carried out in the TOP sample (Thematically Organized Psychosis; n =1025) and the BETULA sample (Betula Longitudinal Study on aging, memory and dementia; n = 1742). Finally, we conducted a meta-analysis of these SNPs using all three samples. The previously identified schizophrenia marker in CSMD1 (SNP rs10503253) was also included. The strongest association was observed between the CSMDI SNP rs2740931 and performance in immediate episodic memory (p-value = 5 Chi 10(-6), minor allele A, MAF 0.48-0.49, negative direction of effect). This association reached the study-wide significance level (p <= 1.2 Chi 10(-5)). SNP rs10503253 was not significantly associated with cognitive functions in our samples. In conclusion, we studied n = 3437 individuals and found evidence that a variant in CSMD1 is associated with cognitive function. Additional studies of larger samples with cognitive phenotypes will be needed to further clarify the role of CSMD1 in cognitive phenotypes in health and disease.
650 7a Medical and Health Sciences2 ssif
650 7a Clinical Medicine2 ssif
650 7a Psychiatry2 ssif
650 7a Medicin och hälsovetenskap2 ssif
650 7a Klinisk medicin2 ssif
650 7a Psykiatri2 ssif
650 7a Basic Medicine2 ssif
650 7a Neurosciences2 ssif
650 7a Medicinska och farmaceutiska grundvetenskaper2 ssif
650 7a Neurovetenskaper2 ssif
653 a Complement
653 a Immunity
653 a CSMD1
653 a CSMD2
653 a Schizophrenia
653 a Cognition
653 a Psychiatry
653 a Memory
653 a GWAS
655 7a government publication2 marcgt
7001 a Giddaluru, Sudheer4 aut
7001 a Fernandes, Carla4 aut
7001 a Christoforou, Andrea4 aut
7001 a Reinvang, Ivar4 aut
7001 a Lundervold, Astri J.4 aut
7001 a Nilsson, Lars Göran,d 1944-4 aut0 https://libris.kb.se/dbqsvnpx42hdglq#it
7001 a Kauppi, Karolina4 aut
7001 a Adolfsson, Rolf4 aut
7001 a Eriksson, Elias4 aut
7001 a Sundet, Kjetil4 aut
7001 a Djurovic, Srdjan4 aut
7001 a Espeseth, Thomas4 aut
7001 a Nyberg, Lars4 aut
7001 a Steen, Vidar M.4 aut
7001 a Andreassen, Ole A.4 aut
7001 a Le Hellard, Stephanie4 aut
7101 a Umeå universitetb Medicinska fakulteten4 pbl
7101 a Umeå universitetb Medicinska fakulteten4 pbl
7101 a Umeå universitetb Medicinska fakulteten4 pbl
7101 a Umeå universitetb Medicinska fakulteten4 pbl
7720 8i channel recordw 18813935
7730 t Brain, behavior, and immunityg 61, 209-216x 0889-1591
8564 0u http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-133700
8564 0u http://dx.doi.org/10.1016/ibbi.2016.11.026
8564 0u http://umu.diva-portal.org/smash/get/diva2:1088993/FULLTEXT01
8564 2u http://www.umu.se/z web site
887 a {"@id":"m5zc5jnz1zj2z3z","modified":"2022-11-07T09:40:43.808+01:00"}2 librisxl
841 5 APISa x ab 170419||0000|||||001||||||000000e u
0247 5 APISa urn:nbn:se:umu:diva-1337002 urn
852 5 APISb APIS
8564 05 APISu http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-133700
887 5 APISa {"@id":"59jrljwb119whc9","modified":"2017-04-19T20:34:16+02:00"}2 librisxl

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