Title | A genome-wide association study identifies genetic loci associated with specific lobar brain volumes. |
Publication Type | Journal Article |
Year of Publication | 2019 |
Authors | van der Lee SJ, Knol MJ, Chauhan G, Satizabal CL, Smith AVernon, Hofer E, Bis JC, Hibar DP, Hilal S, van den Akker EB, Arfanakis K, Bernard M, Yanek LR, Amin N, Crivello F, Cheung JW, Harris TB, Saba Y, Lopez OL, Li S, van der Grond J, Yu L, Paus T, Roshchupkin GV, Amouyel P, Jahanshad N, Taylor KD, Yang Q, Mathias RA, Boehringer S, Mazoyer B, Rice K, Cheng CYu, Maillard P, van Heemst D, Wong TYin, Niessen WJ, Beiser AS, Beekman M, Zhao W, Nyquist PA, Chen C, Launer LJ, Psaty BM, M Ikram K, Vernooij MW, Schmidt H, Pausova Z, Becker DM, De Jager PL, Thompson PM, van Duijn CM, Bennett DA, P Slagboom E, Schmidt R, Longstreth WT, M Ikram A, Seshadri S, Debette S, Gudnason V, Adams HHH, DeCarli C |
Journal | Commun Biol |
Volume | 2 |
Pagination | 285 |
Date Published | 2019 |
ISSN | 2399-3642 |
Abstract | Brain lobar volumes are heritable but genetic studies are limited. We performed genome-wide association studies of frontal, occipital, parietal and temporal lobe volumes in 16,016 individuals, and replicated our findings in 8,789 individuals. We identified six genetic loci associated with specific lobar volumes independent of intracranial volume. Two loci, associated with occipital (6q22.32) and temporal lobe volume (12q14.3), were previously reported to associate with intracranial and hippocampal volume, respectively. We identified four loci previously unknown to affect brain volumes: 3q24 for parietal lobe volume, and 1q22, 4p16.3 and 14q23.1 for occipital lobe volume. The associated variants were located in regions enriched for histone modifications ( and ), or close to genes causing Mendelian brain-related diseases ( and ). No genetic overlap between lobar volumes and neurological or psychiatric diseases was observed. Our findings reveal part of the complex genetics underlying brain development and suggest a role for regulatory regions in determining brain volumes. |
DOI | 10.1038/s42003-019-0537-9 |
Pubmed Link | https://www.ncbi.nlm.nih.gov/pubmed/31396565?dopt=Abstract |
page_expo | External |
Alternate Journal | Commun Biol |
PubMed ID | 31396565 |
PubMed Central ID | PMC6677735 |
Grant List | HHSN268201100008C / HL / NHLBI NIH HHS / United States R01 NS017950 / NS / NINDS NIH HHS / United States R01 HL086694 / HL / NHLBI NIH HHS / United States TMH109788 / / CIHR / Canada HHSN268201200036C / HL / NHLBI NIH HHS / United States R01 NS062059 / NS / NINDS NIH HHS / United States U01 AG024904 / AG / NIA NIH HHS / United States HHSN268201100012C / HL / NHLBI NIH HHS / United States N01HC25195 / HL / NHLBI NIH HHS / United States HHSN268200800007C / HL / NHLBI NIH HHS / United States N01HC85081 / HL / NHLBI NIH HHS / United States N01HC85080 / HL / NHLBI NIH HHS / United States UL1 TR000124 / TR / NCATS NIH HHS / United States R01 NS087541 / NS / NINDS NIH HHS / United States HHSN268201100011C / HL / NHLBI NIH HHS / United States N01HC85082 / HL / NHLBI NIH HHS / United States NET54015 / / CIHR / Canada UL1 RR025005 / RR / NCRR NIH HHS / United States HHSN268201500001I / HL / NHLBI NIH HHS / United States N01AG12100 / AG / NIA NIH HHS / United States N01HC55222 / HL / NHLBI NIH HHS / United States N01HC85079 / HL / NHLBI NIH HHS / United States R01 HL084099 / HL / NHLBI NIH HHS / United States N01HC85083 / HL / NHLBI NIH HHS / United States U01 HG004402 / HG / NHGRI NIH HHS / United States N01HC85086 / HL / NHLBI NIH HHS / United States M01 RR000052 / RR / NCRR NIH HHS / United States HHSN268201100005C / HL / NHLBI NIH HHS / United States R01 HL087641 / HL / NHLBI NIH HHS / United States HHSN268201100009C / HL / NHLBI NIH HHS / United States NRF86678 / / CIHR / Canada HHSN268201100010C / HL / NHLBI NIH HHS / United States |
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