Evidence map›Paper›PMID 33939221›Full record

ArticleHuman brain mapping2021

The morphometry of left cuneus mediating the genetic regulation on working memory.

Xiaoxi He, Xi Li, Jilian Fu, Jiayuan Xu, Huaigui Liu, Peng Zhang, Wei Li, Chunshui Yu, Zhaoxiang Ye, Wen Qin

Abstract read
In one paragraph

Article in Human brain mapping, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed, 2 pooled it
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

27 citing papers in PubMed, 2 syntheses or guidelines pooled it.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Xiaoxi HeDepartment of Radiology, Tianjin Medical University Cancer Institute and Hospital, Tianjin, China.
Xi LiDepartment of Radiology and Tianjin Key Laboratory of Functional Imaging, Tianjin Medical University General Hospital, Tianjin, China.
Jilian FuDepartment of Radiology and Tianjin Key Laboratory of Functional Imaging, Tianjin Medical University General Hospital, Tianjin, China.
Jiayuan XuDepartment of Radiology and Tianjin Key Laboratory of Functional Imaging, Tianjin Medical University General Hospital, Tianjin, China.
Huaigui LiuDepartment of Radiology and Tianjin Key Laboratory of Functional Imaging, Tianjin Medical University General Hospital, Tianjin, China.
Peng ZhangDepartment of Radiology, Tianjin Medical University Cancer Institute and Hospital, Tianjin, China.
Wei LiDepartment of Radiology, Tianjin Medical University Cancer Institute and Hospital, Tianjin, China.
Chunshui YuDepartment of Radiology and Tianjin Key Laboratory of Functional Imaging, Tianjin Medical University General Hospital, Tianjin, China.ORCID 0000-0001-5648-5199
Zhaoxiang YeDepartment of Radiology, Tianjin Medical University Cancer Institute and Hospital, Tianjin, China.
Wen QinDepartment of Radiology and Tianjin Key Laboratory of Functional Imaging, Tianjin Medical University General Hospital, Tianjin, China.ORCID 0000-0002-9121-8296

Funding

Mapping the Human Connectome: Structure, Function, and HeritabilityU54MH091657 · NIMH · WASHINGTON UNIVERSITY · PI UGURBIL, KAMIL, VAN ESSEN, DAVID C · 2010 to 2014
$34.7M
NIMH NIH HHS U54 MH091657
6 · The paper itself

Abstract

Working memory is a basic human cognitive function. However, the genetic signatures and their biological pathway remain poorly understood. In the present study, we tried to clarify this issue by exploring the potential associations and pathways among genetic variants, brain morphometry and working memory performance. We first carried out association analyses between 2-back accuracy and 212 image-derived phenotypes from 1141 Human Connectome Project (HCP) subjects using a linear mixed model (LMM). We found a significantly positive correlation between the left cuneus volume and 2-back accuracy (T = 3.615, p = 3.150e-4, Cohen's d = 0.226, corrected using family-wise error [FWE] method). Based on the LMM-based genome-wide association study (GWAS) on the HCP dataset and UK Biobank 33 k GWAS summary statistics, we identified eight independent single nucleotide polymorphisms (SNPs) that were reliably associated with left cuneus volume in both UKB and HCP dataset. Within the eight SNPs, we found a negative correlation between the rs76119478 polymorphism and 2-back accuracy accuracy (T = -2.045, p = .041, Cohen's d = -0.129). Finally, an LMM-based mediation analysis elucidated a significant effect of left cuneus volume in mediating rs76119478 polymorphism on the 2-back accuracy (indirect effect = -0.007, 95% BCa CI = [-0.045, -0.003]). These results were also replicated in a subgroup of Caucasians in the HCP population. Further fine mapping demonstrated that rs76119478 maps on intergene CTD-2315A10.2 adjacent to protein-encoding gene DAAM1, and is significantly associated with L3HYPDH mRNA expression. Our study suggested this new variant rs76119478 may regulate the working memory through exerting influence on the left cuneus volume.

Indexed as

Genome-Wide Association StudyAdultDatasets as TopicFemaleGene Expression RegulationHumansMagnetic Resonance ImagingMaleMemory, Short-TermOccipital LobePolymorphism, Single NucleotideYoung Adultbrain morphometrycuneusgenome-wide association studyHuman Connectome Projectmediationn-backUK biobankworking memory

Identifiers

PMID33939221
PMCPMC8249898

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LicenceCC BY-NC-ND
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.