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BMP2/BMP4 结直肠癌易感性位点在北欧和南欧人群中的分布。

BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations.

机构信息

Fundación Pública Galega de Medicina Xenómica-Grupo de Medicina Xenómica-Centro de Investigación Biomédica en Red de Enfermedades Raras-IDIS, Santiago de Compostela 15706, Spain.

出版信息

Carcinogenesis. 2013 Feb;34(2):314-8. doi: 10.1093/carcin/bgs357. Epub 2012 Nov 16.


DOI:10.1093/carcin/bgs357
PMID:23161572
Abstract

Genome-wide association studies have successfully identified 20 colorectal cancer susceptibility loci. Amongst these, four of the signals are defined by tagging single nucleotide polymorphisms (SNPs) on regions 14q22.2 (rs4444235 and rs1957636) and 20p12.3 (rs961253 and rs4813802). These markers are located close to two of the genes involved in bone morphogenetic protein (BMP) signaling (BMP4 and BMP2, respectively). By investigating these four SNPs in an initial cohort of Spanish origin, we found substantial evidence that minor allele frequencies (MAFs) may be different in northern and southern European populations. Therefore, we genotyped three additional southern European cohorts comprising a total of 2028 cases and 4273 controls. The meta-analysis results show that only one of the association signals (rs961253) is effectively replicated in the southern European populations, despite adequate power to detect all four. The other three SNPs (rs4444235, rs1957636 and rs4813802) presented discordant results in MAFs and linkage disequilibrium patterns between northern and southern European cohorts. We hypothesize that this lack of replication could be the result of differential tagging of the functional variant in both sets of populations. Were this true, it would have complex consequences in both our ability to understand the nature of the real causative variants, as well as for further study designs.

摘要

全基因组关联研究已成功确定了 20 个结直肠癌易感性位点。在这些信号中,有 4 个信号由标记在 14q22.2 区域(rs4444235 和 rs1957636)和 20p12.3(rs961253 和 rs4813802)上的单核苷酸多态性(SNPs)定义。这些标记物位于参与骨形态发生蛋白(BMP)信号通路的两个基因附近(BMP4 和 BMP2)。在最初的西班牙人群队列中对这四个 SNP 进行研究后,我们发现有充分的证据表明,北欧和南欧人群的次要等位基因频率(MAF)可能存在差异。因此,我们对另外三个包括 2028 例病例和 4273 例对照的南欧人群进行了基因分型。荟萃分析结果表明,尽管有足够的检测所有四个关联信号的能力,但在南欧人群中只有一个关联信号(rs961253)得到了有效复制。另外三个 SNP(rs4444235、rs1957636 和 rs4813802)在 MAF 和北欧和南欧人群之间的连锁不平衡模式方面呈现出不一致的结果。我们假设这种复制缺失可能是由于两个人群中功能性变体的不同标记所致。如果这是真的,这将对我们理解真正致病变体的性质以及进一步的研究设计能力产生复杂的影响。

相似文献

[1]
BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations.

Carcinogenesis. 2012-11-16

[2]
Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer.

PLoS Genet. 2011-6-2

[3]
Common genetic variant on BMP4 contributes to colorectal adenoma and cancer: A meta-analysis based on 15 studies.

Cytokine. 2015-4

[4]
Evaluation of the Genetic Association and mRNA Expression of the , , and Genes in the Development of Otosclerosis.

Genet Test Mol Biomarkers. 2020-6

[5]
Relationship between 16 susceptibility loci and colorectal cancer phenotype in 3146 patients.

Carcinogenesis. 2011-10-31

[6]
Shared and independent colorectal cancer risk alleles in TGFβ-related genes in African and European Americans.

Carcinogenesis. 2014-4-21

[7]
Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.

Nat Genet. 2008-12

[8]
The 14q22.2 colorectal cancer variant rs4444235 shows cis-acting regulation of BMP4.

Oncogene. 2011-12-12

[9]
Effects of interactions between common genetic variants and smoking on colorectal cancer.

BMC Cancer. 2017-12-19

[10]
Meta-analysis of new genome-wide association studies of colorectal cancer risk.

Hum Genet. 2011-7-15

引用本文的文献

[1]
In Silico Gene Prioritization Highlights the Significance of Bone Morphogenetic Protein 4 () Promoter Methylation across All Methylation Clusters in Colorectal Cancer.

Int J Mol Sci. 2023-8-11

[2]
The role of miR-370 and miR-138 in the regulation of BMP2 suppressor gene expression in colorectal cancer: preliminary studies.

J Cancer Res Clin Oncol. 2022-7

[3]
A geographically matched control population efficiently limits the number of candidate disease-causing variants in an unbiased whole-genome analysis.

PLoS One. 2019-3-27

[4]
Evaluation of genetic variants in association with colorectal cancer risk and survival in Asians.

Int J Cancer. 2017-9-15

[5]
The common variant rs4444235 near BMP4 confers genetic susceptibility of colorectal cancer: an updated meta-analysis based on a comprehensive statistical strategy.

PLoS One. 2014-6-16

[6]
Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal cancer risk: results from a multi-centric study.

PLoS One. 2014-1-21

[7]
BMP4, a strong better prognosis predictor, has a subtype preference and cell development association in gliomas.

J Transl Med. 2013-4-16

[8]
A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12.

BMC Genomics. 2013-1-26

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