Reprimo 824 G&gt;C and p53R2 4696 C&gt;G single nucleotide polymorphisms and colorectal cancer: a case–control disease association study

Beasley, William D.; Beynon, J.; Jenkins, Gareth; Parry, J.M.

doi:10.1007/s00384-007-0435-3

Cited by 11 publications

(7 citation statements)

References 159 publications

(238 reference statements)

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“…Few sequence variants have previously been reported to associate with diverticular disease, diverticulitis or diverticular disease -related diseases in small candidate gene studies30313233. We show no evidence for association of these variants with the disease in the Icelandic data (Supplementary Table 7).…”

Section: Resultscontrasting

confidence: 53%

Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis

et al. 2017

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Diverticular disease is characterized by pouches (that is, diverticulae) due to weakness in the bowel wall, which can become infected and inflamed causing diverticulitis, with potentially severe complications. Here, we test 32.4 million sequence variants identified through whole-genome sequencing (WGS) of 15,220 Icelanders for association with diverticular disease (5,426 cases) and its more severe form diverticulitis (2,764 cases). Subsequently, 16 sequence variants are followed up in a diverticular disease sample from Denmark (5,970 cases, 3,020 controls). In the combined Icelandic and Danish data sets we observe significant association of intronic variants in ARHGAP15 (Rho GTPase-activating protein 15; rs4662344-T: P=1.9 × 10−18, odds ratio (OR)=1.23) and COLQ (collagen-like tail subunit of asymmetric acetylcholinesterase; rs7609897-T: P=1.5 × 10−10, OR=0.87) with diverticular disease and in FAM155A (family with sequence similarity 155A; rs67153654-A: P=3.0 × 10−11, OR=0.82) with diverticulitis. These are the first loci shown to associate with diverticular disease in a genome-wide study.

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Section: Resultscontrasting

confidence: 53%

Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis

et al. 2017

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“…Clinical studies have shown that the loss of RPRM expression is as common event in gastric cancer [ 3 , 31 , 32 , 36 ] as in other tumors of the gastrointestinal tract including Barrett’s-associated esophageal adenocarcinoma, pancreatic and colorectal carcinoma [ 37 , 38 , 39 , 40 , 41 ]. Loss of expression of RPRM has been also reported in non-digestive tumors including breast, renal cell carcinoma, adrenocortical and pituitary tumors [ 33 , 34 , 35 , 42 , 43 ].…”

Section: Role Of the Rprm Gene Family In Human mentioning

confidence: 99%

The Reprimo Gene Family: A Novel Gene Lineage in Gastric Cancer with Tumor Suppressive Properties

Amigo

Opazo

Jorquera

et al. 2018

IJMS

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The reprimo (RPRM) gene family is a group of single exon genes present exclusively within the vertebrate lineage. Two out of three members of this family are present in humans: RPRM and RPRM-Like (RPRML). RPRM induces cell cycle arrest at G2/M in response to p53 expression. Loss-of-expression of RPRM is related to increased cell proliferation and growth in gastric cancer. This evidence suggests that RPRM has tumor suppressive properties. However, the molecular mechanisms and signaling partners by which RPRM exerts its functions remain unknown. Moreover, scarce studies have attempted to characterize RPRML, and its functionality is unclear. Herein, we highlight the role of the RPRM gene family in gastric carcinogenesis, as well as its potential applications in clinical settings. In addition, we summarize the current knowledge on the phylogeny and expression patterns of this family of genes in embryonic zebrafish and adult humans. Strikingly, in both species, RPRM is expressed primarily in the digestive tract, blood vessels and central nervous system, supporting the use of zebrafish for further functional characterization of RPRM. Finally, drawing on embryonic and adult expression patterns, we address the potential relevance of RPRM and RPRML in cancer. Active investigation or analytical research in the coming years should contribute to novel translational applications of this poorly understood gene family as potential biomarkers and development of novel cancer therapies.

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“…A logistic regression model was used to calculate odds ratios (ORs) and their 95% confidence intervals; with both, the Thomas F. Wienker algorithm of Finetti software version 3.05-2008 (http://ihg.gsf.de/cgi-bin/hw/hwa1.pl) (Elston and Forthofer, 1977;Beasley et al, 2008), and SNPStats version 3.1 (http://bioinfo.iconcologia.net/SNPstats) were used for the association analysis that included the Armitage's trend test, following the guidelines given by Sasieni (Sasieni, 1997;Sole et al, 2006;Ban et al, 2009).…”

Section: Statistical Analysesmentioning

confidence: 99%

Exploring epistasis in candidate genes for antisocial personality disorder

Arias¹,

Acosta²,

Valencia³

et al. 2011

Psychiatric Genetics

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Reprimo 824 G>C and p53R2 4696 C>G single nucleotide polymorphisms and colorectal cancer: a case–control disease association study

Abstract: No association between p53R2 4696C>G and Reprimo 824G>C with CRC was shown by this study. An association between the Reprimo 824G>C heterozygote and diverticular disease may exist on the basis of deviation from Hardy-Weinberg equilibrium.

Cited by 11 publications

References 159 publications

Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis

Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis

The Reprimo Gene Family: A Novel Gene Lineage in Gastric Cancer with Tumor Suppressive Properties

Exploring epistasis in candidate genes for antisocial personality disorder

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