DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Hippocampal volume. The EFO term hippocampal volume was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: hippocampal volume

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

JC Bis, C DeCarli, AV Smith, F van der Lijn, F Crivello, M Fornage, S Debette, JM Shulman, H Schmidt, V Srikanth, M Schuur, L Yu, SH Choi, S Sigurdsson, BF Verhaaren, AL DeStefano, JC Lambert, CR Jack, M Struchalin, J Stankovich, CA Ibrahim-Verbaas, D Fleischman, A Zijdenbos, T den Heijer, B Mazoyer, LH Coker, C Enzinger, P Danoy, N Amin, K Arfanakis, MA van Buchem, RF de Bruijn, A Beiser, C Dufouil, J Huang, M Cavalieri, R Thomson, WJ Niessen, LB Chibnik, GK Gislason, A Hofman, A Pikula, P Amouyel, KB Freeman, TG Phan, BA Oostra, JL Stein, SE Medland, AA Vasquez, DP Hibar, MJ Wright, B Franke, NG Martin, PM Thompson, MA Nalls, AG Uitterlinden, R Au, A Elbaz, RJ Beare, JC van Swieten, OL Lopez, TB Harris, V Chouraki, MM Breteler, PL De Jager, JT Becker, MW Vernooij, D Knopman, F Fazekas, PA Wolf, A van der Lugt, V Gudnason, WT Longstreth, MA Brown, DA Bennett, CM van Duijn, TH Mosley, R Schmidt, C Tzourio, LJ Launer, MA Ikram, S Seshadri

TITLE:

Common variants at 12q14 and 12q24 are associated with hippocampal volume.

JOURNAL:

Nature genetics Apr 2012, Vol 44, pp. 545-51

ABSTRACT:

Aging is associated with reductions in hippocampal volume that are accelerated by Alzheimer's disease and vascular risk factors. Our genome-wide association study (GWAS) of dementia-free persons (n = 9,232) identified 46 SNPs at four loci with P values of <4.0 × 10(-7). In two additional samples (n = 2,318), associations were replicated at 12q14 within MSRB3-WIF1 (discovery and replication; rs17178006; P = 5.3 × 10(-11)) and at 12q24 near HRK-FBXW8 (rs7294919; P = 2.9 × 10(-11)). Remaining associations included one SNP at 2q24 within DPP4 (rs6741949; P = 2.9 × 10(-7)) and nine SNPs at 9p33 within ASTN2 (rs7852872; P = 1.0 × 10(-7)); along with the chromosome 12 associations, these loci were also associated with hippocampal volume (P < 0.05) in a third younger, more heterogeneous sample (n = 7,794). The SNP in ASTN2 also showed suggestive association with decline in cognition in a largely independent sample (n = 1,563). These associations implicate genes related to apoptosis (HRK), development (WIF1), oxidative stress (MSR3B), ubiquitination (FBXW8) and neuronal migration (ASTN2), as well as enzymes targeted by new diabetes medications (DPP4), indicating new genetic influences on hippocampal size and possibly the risk of cognitive decline and dementia. PUBMED: 22504421
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