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胃食管反流病 GWAS 鉴定出与后续严重食管疾病相关的风险基因座。

Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases.

机构信息

Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.

Cancer Control, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.

出版信息

Nat Commun. 2019 Sep 16;10(1):4219. doi: 10.1038/s41467-019-11968-2.

DOI:10.1038/s41467-019-11968-2
PMID:31527586
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6746768/
Abstract

Gastroesophageal reflux disease (GERD) is caused by gastric acid entering the esophagus. GERD has high prevalence and is the major risk factor for Barrett's esophagus (BE) and esophageal adenocarcinoma (EA). We conduct a large GERD GWAS meta-analysis (80,265 cases, 305,011 controls), identifying 25 independent genome-wide significant loci for GERD. Several of the implicated genes are existing or putative drug targets. Loci discovery is greatest with a broad GERD definition (including cases defined by self-report or medication data). Further, 91% of the GERD risk-increasing alleles also increase BE and/or EA risk, greatly expanding gene discovery for these traits. Our results map genes for GERD and related traits and uncover potential new drug targets for these conditions.

摘要

胃食管反流病（GERD）是由胃酸进入食管引起的。GERD 的患病率很高，是 Barrett 食管（BE）和食管腺癌（EA）的主要危险因素。我们进行了一项大规模的 GERD GWAS 荟萃分析（80265 例病例，305011 例对照），确定了 25 个与 GERD 相关的独立全基因组显著位点。一些涉及的基因是现有的或假定的药物靶点。采用广泛的 GERD 定义（包括通过自我报告或药物数据定义的病例）时，发现的基因座最多。此外，91%的 GERD 风险增加等位基因也会增加 BE 和/或 EA 的风险，极大地扩展了这些疾病的基因发现。我们的研究结果为 GERD 及其相关疾病的基因图谱，并为这些疾病发现了潜在的新药物靶点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e76/6746768/7f409f933840/41467_2019_11968_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e76/6746768/ceed033eadd7/41467_2019_11968_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e76/6746768/7271788373ba/41467_2019_11968_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e76/6746768/7f409f933840/41467_2019_11968_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e76/6746768/ceed033eadd7/41467_2019_11968_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e76/6746768/7271788373ba/41467_2019_11968_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e76/6746768/7f409f933840/41467_2019_11968_Fig3_HTML.jpg

相似文献

[1]
Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases.

Nat Commun. 2019-9-16

[2]
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[3]
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[4]
Multitrait genetic association analysis identifies 50 new risk loci for gastro-oesophageal reflux, seven new loci for Barrett's oesophagus and provides insights into clinical heterogeneity in reflux diagnosis.

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[5]
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Gastroenterology. 2020-12

[6]
Germline genetic contributions to risk for esophageal adenocarcinoma, Barrett's esophagus, and gastroesophageal reflux.

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[7]
Chronic gastroesophageal reflux disease shares genetic background with esophageal adenocarcinoma and Barrett's esophagus.

Hum Mol Genet. 2016-2-15

[8]
MiRNA-Related SNPs and Risk of Esophageal Adenocarcinoma and Barrett's Esophagus: Post Genome-Wide Association Analysis in the BEACON Consortium.

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[9]
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Clin Gastroenterol Hepatol. 2018-3-15

[10]
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[2]
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[3]
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[4]
Interstitial Cystitis: a phenotype and rare variant exome sequencing study: Interstitial Cystitis: a phenotype and exome sequencing study.

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[5]
Novel risk loci encompassing genes influencing STAT3, GPCR, and oxidative stress signaling are associated with co-morbid GERD and COPD.

PLoS Genet. 2025-2-7

[6]
Integrating genetics and transcriptomics to characterize shared mechanisms in digestive diseases and psychiatric disorders.

Commun Biol. 2025-1-14

[7]
Shared Genetics of Migraine and Gastrointestinal Disorders Implicates Underlying Neurologic Mechanisms Yet Heterogeneous Etiologies.

Neurol Genet. 2024-12-10

[8]
Gastroesophageal reflux disease and risk of incident lung cancer: A large prospective cohort study in UK Biobank.

PLoS One. 2024

[9]
A population-based study of familial coaggregation and shared genetic etiology of psychiatric and gastrointestinal disorders.

Commun Med (Lond). 2024-9-19

[10]
Shared genetic architecture between gastro-esophageal reflux disease, asthma, and allergic diseases.

Commun Biol. 2024-9-2

本文引用的文献

[1]
Long noncoding RNA LINC00261 induces chemosensitization to 5-fluorouracil by mediating methylation-dependent repression of DPYD in human esophageal cancer.

FASEB J. 2018-9-18

[2]
Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry.

Hum Mol Genet. 2018-10-15

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Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.

Nat Genet. 2018-7-27

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Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

Nat Genet. 2018-7-23

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Nat Genet. 2018-6-28

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Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.

Nat Genet. 2018-4-26

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Overlap of Dyspepsia in Patients with Gastroesophageal Reflux Disease: Impact of Clinical, Metabolic, and Psychosocial Characteristics.

Dig Dis Sci. 2017-4

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