Effects of the lactase 13910 C/T and calcium-sensor receptor A986S G/T gene polymorphisms on the incidence and recurrence of colorectal cancer in Hungarian population

Bácsi, Krisztián; Hitre, Erika; Kósa, János P.; Horváth, Hajnalka; Lazáry, Áron; Balla, Bernadett; Budai, Barna; Lakatos, Péter L.; Szabó, Gábor

doi:10.1186/1471-2407-8-317

Cited by 29 publications

(42 citation statements)

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“…Accordingly, these data support the hypothesis that the CaSR gene A986S variant might have a role in pathogenesis of CRC. Studies of the effect of CaSR gene A986S variant on colorectal, colon, or rectal cancer have been inconclusive (Speer et al, 2002;Fuszek et al, 2004;Bacsi et al, 2008;Dong et al, 2008;Jenab et al, 2009). Consistent with our findings, most previous studies found no association between this variant and CRC.…”

Section: Discussionsupporting

confidence: 83%

“…Another small study (Fuszek et al, 2004) that investigated the association between the A986S variant and CRC in 70 cases with CRC and 201 controls could not detect any association between the variant and CRC. In contrast, Bacsi et al (2008) showed that the CaSR A986S "SS" genotype compared with "AA+AS" genotypes was more frequent in 278 cases with CRC than in 260 controls. However, in a large study of 1600 cases with colon cancer and 1949 controls which was conducted by Dong et al (2008) there was no significant association between the A986S variant and colon cancer overall.…”

Section: Discussionmentioning

confidence: 85%

“…CaSR appears to play a tumor suppressor role in CRC and has a critical role in the maintenance of calcium homeostasis (Sarkar and Kumar, 2012;Ward et al, 2012) by modulating parathyroid hormone (PTH) secretion from the parathyroid glands (Saidak et al, 2009). In recent years, the relationship between CaSR gene polymorphisms and CRC risk has garnered a great deal of attention and association studies of CaSR gene rs1801725 (A986S) variant have been performed to investigate its implication with CRC risk, but despite the biological plausibility the results are inconsistent (Speer et al, 2002;Fuszek et al, 2004;Bacsi et al, 2008;Dong et al, 2008;Jenab et al, 2009) and the role of this gene in the etiology of CRC is still equivocal. Some studies (Speer et al, 2002;Fuszek et al, 2004;Dong et al, 2008;Jenab et al, 2009) have found no association, other investigations (Bacsi et al, 2008) have reported significant associations between the A986S variant and the risk of CRC.…”

Section: Introductionmentioning

confidence: 99%

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Parathyroid Hormone Gene rs6256 and Calcium Sensing Receptor Gene rs1801725 Variants are not Associated with Susceptibility to Colorectal Cancer in Iran

Mahmoudi¹,

Karimi²,

Arkani³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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Background: Substantial evidence from epidemiological studies has suggested that increased levels of calcium may play a protective role against colorectal cancer (CRC). Given the vital role of calcium sensing receptor (CaSR) and parathyroid hormone (PTH) in the maintenance of calcium homeostasis, we explored whether the rs1801725 (A986S) variant located in exon 7 of the CaSR gene and the rs6256 variant located in exon 3 of PTH gene might be associated with CRC risk. Materials and Methods: In this study 860 subjects including 350 cases with CRC and 510 controls were enrolled and genotyped using PCR-RFLP methods. Results: We observed no significant difference in genotype or allele frequencies between the cases with CRC and controls for both CaSR and PTH genes either before or after adjustment for confounding factors including age, BMI, sex, smoking status, and family history of CRC. Furthermore, no evidence for effect modification of any association of rs1801725 and rs6256 variants and CRC by BMI, sex, or tumor site was observed. In addition, there was no significant difference in genotype and allele frequencies between the normal weight (BMI <25 kg/m 2 ) cases and overweight/ obese (BMI ≥25 kg/m 2 ) cases for the two SNPs. Conclusions: These data indicated that the CaSR gene A986S variant is not a genetic contributor to CRC risk in the Iranian population. Furthermore, our results suggest for the first time that PTH gene variant does not affect CRC risk. Nonetheless, further studies with larger sample size are needed to validate these findings.

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Section: Discussionsupporting

confidence: 83%

Section: Discussionmentioning

confidence: 85%

Section: Introductionmentioning

confidence: 99%

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Parathyroid Hormone Gene rs6256 and Calcium Sensing Receptor Gene rs1801725 Variants are not Associated with Susceptibility to Colorectal Cancer in Iran

Mahmoudi¹,

Karimi²,

Arkani³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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“…This reinforces the observation by Chakrabarty and colleagues who provided clear evidence that interfering with the CaSR-E-cadherin-catenin axis results in abnormal differentiation and/or malignant progression of colon epithelial cells [63]. In addition, several CaSR SNPs have been found to correlate with susceptibility to colon cancer and/or disease progression [95,[103][104][105].…”

Section: Cancersupporting

confidence: 72%

The Calcium-Sensing Receptor as a Regulator of Cellular Fate in Normal and Pathological Conditions

Diez-Fraile¹,

Lammens²,

Benoit³

et al. 2013

Current Molecular Medicine

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Abstract:The calcium-sensing receptor (CaSR) belongs to the evolutionarily conserved family of plasma membrane G protein-coupled receptors (GPCRs). Early studies identified an essential role for the CaSR in systemic calcium homeostasis through its ability to sense small changes in circulating calcium concentration and to couple this information to intracellular signaling pathways that influence parathyroid hormone secretion. However, the presence of CaSR protein in tissues is not directly involved in regulating mineral ion homeostasis points to a role for the CaSR in other cellular functions including the control of cellular proliferation, differentiation and apoptosis. This position at the crossroads of cellular fate designates the CaSR as an interesting study subject is likely to be involved in a variety of previously unconsidered human pathologies, including cancer, atherosclerosis and Alzheimer's disease. Here, we will review the recent discoveries regarding the relevance of CaSR signaling in development and disease. Furthermore, we will discuss the rational for developing and using CaSR-based therapeutics.

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“…A genetikai vizsgálatba minden beteg írásos beleegyezést adott. A C/T-13910-polimorfizmust irodalmi leírás adaptációjával, TaqMan valós idejű PCR-mód-szerrel határoztuk meg [4]. A módszer a Taq polimeráz 5'-3' exonukleáz aktivitásán alapul, amelynek révén a két végén jelölt próba hibridizációja után a próbát megemészti, ezzel a gátló jelzést eltávolítja a fluoreszkáló festéktől, így téve lehetővé a PCR-ciklusok során a végter-mék mennyiségi mérését.…”

Section: Táblázatunclassified

Laktózintolerancia: a laktázgén C/T-13910 polimorfizmusának és a hidrogénkilégzési teszt pontosságának retrospektív kiértékelése gasztroenterológiai szakrendelésen

2016

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Bevezetés: A felnőtt típusú hypolactasia a leggyakoribb szénhidrát-felszívódási zavar. Célkitűzés: A laktázgén C/T-13910-polimorfizmus eloszlásának és a H 2 -kilégzési teszt pontosságának, valamint a genetikai és kilégzési teszt konkordanciájának kiértékelése. Módszer: A retrospektív tanulmányba 496, tejcukor-érzékenység tüneteivel jelentkező beteget válogattak be. A szerzők a C/T-13910 genotípust TaqMan polimeráz láncreakcióval, a laktózintoleranciát H 2 -kilégzési teszttel vizsgálták. Eredmények: A C/T-19310 genotípusok eloszlása az alábbi volt: CC: 48,1%, TC: 40,5%, TT: 11,4%. A genetikai tesztet viszonyítási alapnak véve, a kilégzési teszt érzékenysége 84,3%, fajlagossága 95,7%, pozitív prediktív értéke 96,7%, negatív prediktív értéke 80,4% volt. A kilégzési tesztet viszonyítási alapul véve, a genetikai teszt érzékenysége 96,6%, fajlagossága 80,4%, pozitív prediktív értéke 84,3%, negatív prediktív értéke 95,7% volt. A két vizsgálat konkordanciája (kappa-index) 0,78 volt. Az esetek 11,1%-ában volt a két vizsgálat eredménye diszkordáns. Következtetések: Laktózérzékenység panaszaival jelentkező betegekben a hypolactasiára jellemző CC genotípus az esetek majdnem felében kimutatható. A genetikai és kilégzési teszt pontossága hasonló, mindkettő használható a diagnózis alapjául, egymást kiegészítik. A két teszt konkordanciája jó. A diszkordáns esetekben a jelenség okát meg kell keresni. Orv. Hetil., 2016, 157(25), 1007-1112.Kulcsszavak: genetikai teszt, hidrogénkilégzési teszt, hypolactasia, laktózintolerancia, polimorfizmus Accuracy of lactase gene C/T-13910 polymorphism and hydrogen breath test in a gastroenterology outpatient clinic: a retrospective studyIntroduction: Adult type hypolactasia is the most prevalent carbohydrate malabsorption. Aim: To assess the distribution of lactase gene C/T-13910 polymorphism and the accuracy and concordance of a genetic test and H 2 breath test in the diagnosis of adult type hypolactasia. Method: 496 patients with symptoms of lactose intolerance were enrolled in a retrospective study who underwent genetic test using TaqMan polymerase chain reaction and H 2 breath test. Results: The prevalence of C/T-13910 genotypes was: CC 48.1%, TC: 40.5%, and TT: 11.4%. When the genetic test was taken as reference, the sensitivity of the breath test was 84.3%, with a specificity of 95.7%, a positive predictive value of 96.7% and negative predictive value of 80.4%. Conversely, the accuracy of genetic test was: sensitivity 96.6%, specificity 80.4%, positive predictive value 84.3% and negative predictive value 95.7%. The concordance value between the two tests (kappa index) was 0.78. The results were discordant in 11.1% of the cases. Conclusions: In symptomatic patients, the lactase non-persistence genotype CC occurred in almost half of the patients. Both the genetic and the breath tests are sufficiently accurate, with good predictive value and they can be used to set up the diagnosis. Discordant results should be carefully interpreted.

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Effects of the lactase 13910 C/T and calcium-sensor receptor A986S G/T gene polymorphisms on the incidence and recurrence of colorectal cancer in Hungarian population

Cited by 29 publications

References 29 publications

Parathyroid Hormone Gene rs6256 and Calcium Sensing Receptor Gene rs1801725 Variants are not Associated with Susceptibility to Colorectal Cancer in Iran

Parathyroid Hormone Gene rs6256 and Calcium Sensing Receptor Gene rs1801725 Variants are not Associated with Susceptibility to Colorectal Cancer in Iran

The Calcium-Sensing Receptor as a Regulator of Cellular Fate in Normal and Pathological Conditions

Laktózintolerancia: a laktázgén C/T-13910 polimorfizmusának és a hidrogénkilégzési teszt pontosságának retrospektív kiértékelése gasztroenterológiai szakrendelésen

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