Riesgos competitivos de muerte y equilibrio de Hardy-Weinberg en estudios de casos y controles sobre asociación entre genes y enfermedades

Llorca, Javier; Prieto-Salceda, Dolores; Combarros, Onofre; Dierssen-Sotos, Trinidad; Berciano, José

doi:10.1157/13078032

Cited by 13 publications

(8 citation statements)

References 6 publications

(1 reference statement)

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“…Meanwhile, Galbiatti et al also reported that polymorphism of CBS gene was not in Hardy-Weinberg equilibrium [26] . The departure from the Hardy-Weinberg equilibrium may result from selection bias, disease model adopted, and evolutionary factors which may influence changes in the genotype frequencies [35] , [36] . On the other hand, this disequilibrium should be expected, in the case that it reflected biological and genetic characteristics in complex disease models [37] .…”

Section: Discussionmentioning

confidence: 99%

One-Carbon Metabolism Pathway Gene Variants and Risk of Clear Cell Renal Cell Carcinoma in a Chinese Population

Zhang

Meng

et al. 2013

PLoS ONE

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BackgroundOne-carbon metabolism is the basement of nucleotide synthesis and the methylation of DNA linked to cancer risk. Variations in one-carbon metabolism genes are reported to affect the risk of many cancers, including renal cancer, but little knowledge about this mechanism is known in Chinese population.MethodsEach subject donated 5 mL venous blood after signing the agreement. The study was approved by the Institutional Review Board of the Nanjing Medical University, Nanjing, China. 18 SNPs in six one-carbon metabolism-related genes (CBS, MTHFR, MTR, MTRR, SHMT1, and TYMS) were genotyped in 859 clear cell renal cell carcinoma (ccRCC) patients and 1005 cancer-free controls by the Snapshot.ResultsStrong associations with ccRCC risk were observed for rs706209 (P = 0.006) in CBS and rs9332 (P = 0.027) in MTRR. Compared with those carrying none variant allele, individuals carrying one or more variant alleles in these two genes had a statistically significantly decreased risk of ccRCC [P = 0.001, adjusted odds ratio (OR) = 0.73, 95% confidence interval (CI) = 0.06–0.90]. In addition, patients carrying one or more variant alleles were more likely to develop localized stage disease (P = 0.002, adjusted OR = 1.37, 95%CI = 1.11–1.69) and well-differentiated ccRCC (P<0.001, adjusted OR = 1.42, 95%CI = 0.87–1.68). In the subgroup analysis, individuals carrying none variant allele in older group (P = 0.007, adjusted OR = 0.67, 95%CI = 0.49–0.91), male group (P = 0.007, adjusted OR = 0.71, 95%CI = 0.55–0.92), never smoking group (P = 0.002, adjusted OR = 0.68, 95%CI = 0.53–0.88) and never drinking group (P<0.001, adjusted OR = 0.68, 95%CI = 0.53–0.88) had an increased ccRCC risk.ConclusionsOur results suggest that the polymorphisms of the one-carbon metabolism-related genes are associated with ccRCC risk in Chinese population. Future population-based prospective studies are required to confirm the results.

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Section: Discussionmentioning

confidence: 99%

One-Carbon Metabolism Pathway Gene Variants and Risk of Clear Cell Renal Cell Carcinoma in a Chinese Population

Zhang

Meng

et al. 2013

PLoS ONE

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“…The departure from the HWE may result from the random selection of the studied individuals, the disease model adopted, and evolutionary factors which can influence changes in the genotype frequencies [34, 35]. On the other hand, this disequilibrium should be expected, considering that it reflects biological and genetic characteristics in complex disease models [36].…”

Section: Discussionmentioning

confidence: 99%

The association between CBS 844ins68 polymorphism and head and neck squamous cell carcinoma risk – a case-control analysis

Galbiatti¹,

Ruiz²,

Raposo³

et al. 2010

aoms

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IntroductionSusceptibility to head and neck squamous cell carcinoma may be modified by functional polymorphisms in genes involved in the folate pathway, such as cystathionine beta-synthase (CBS). The CBS 844ins68 polymorphism is associated with DNA methylation changes and cancer development.Material and methodsA case-control retrospective study was conducted in 322 patients with head and neck squamous cell carcinoma and in 531 control subjects without cancer. The polymerase chain reaction-restriction fragment length polymorphism technique was used to genotype the polymorphism. For statistical analysis, χ2 test was conducted to examine whether the genotypic frequency of CBS 844ins68 was in Hardy-Weinberg equilibrium and multiple logistic regression was used for comparisons between groups, and for interactions between the polymorphism and risk factors and clinical histopathological parameters.ResultsNo significant difference in CBS 844ins68 genotypic distribution was observed between the groups. Age > 50 years, male gender and tobacco consumption were predictors of the disease with increased risk of 7.89 (95% CI: 5.56-11.21), 2.49 (95% CI: 1.72-3.62), 6.44 (95% CI: 4.63-8.96) and 2.29 times (95% CI: 1.71-3.06) respectively. There was no association between the distribution of the CBS 844ins68 genotype and risk factors for this disease. According to clinical histopathological parameters, CBS 884ins68 polymorphism presented high frequency in oral cavity (p < 0.05) and patients with the polymorphism presented less survival time (p < 0.05).ConclusionsWe concluded that the CBS 844ins68 polymorphism is not associated with HNSCC risk and there is increased risk of this disease in male gender individuals smokers aged over 50 years. In adittion, the polymorphism is more frequent in patients with oral cavity as primary site and in patients with less survival time.

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“…En cambio, las alteraciones de baja penetrancia necesitan, para manifestarse, la participación de otros procesos, fundamentalmente ambientales. Decimos así que las interacciones con el medio ambiente son intrínsecas al modo de actuación de los genes de baja penetrancia: las alteraciones en estos genes permanecen «silenciosas» o «mudas» hasta que algún factor externo las hace «despertar» y expresarse [1][2][3][4][5][6] .…”

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“…Puesto que son infrecuentes, las alteraciones más penetrantes sólo causan una proporción pequeña de los casos de las enfermedades más prevalentes en nuestras sociedades [1][2][3][4] . La inmensa mayoría de estas enfermedades son el resultado de acumular durante años alteraciones genéticas somáticas, tras complejas interacciones entre múltiples genes, sus productos (sus proteínas) y una diversidad de procesos socioambientales [5][6][7][8] ; entre estos últimos podemos mencionar la exposición crónica, a dosis generalmente bajas, a agentes químicos ambientales (AQA), genotóxicos o no 7-10 .…”

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“…A veces, las interacciones genético-ambientales se restringen erróneamente a las alteraciones heredadas en genes de baja penetrancia (un ejemplo típico son los polimorfismos en genes que participan en la metabolización de xenobióticos) [1][2][3][4][5][6][7][8] . De modo que, en contra de lo que es lógico -biológico-se elude analizar cómo ciertos procesos ambientales interaccionan biológicamente con el material genético y causan mutaciones [1][2][3][4]7,8 .…”

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La acumulación de alteraciones genéticas y epigenéticas: un proceso causal clave entre el medio ambiente y las enfermedades de etiología compleja

Porta

Crous

2005

Gaceta Sanitaria

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Riesgos competitivos de muerte y equilibrio de Hardy-Weinberg en estudios de casos y controles sobre asociación entre genes y enfermedades

Abstract: Although the main causes of Hardy-Weinberg disequilibrium in controls are selection bias or genotyping error, a competing risk of death associated with the mutant gene would also result in Hardy-Weinberg disequilibrium among controls.

Cited by 13 publications

References 6 publications

One-Carbon Metabolism Pathway Gene Variants and Risk of Clear Cell Renal Cell Carcinoma in a Chinese Population

One-Carbon Metabolism Pathway Gene Variants and Risk of Clear Cell Renal Cell Carcinoma in a Chinese Population

The association between CBS 844ins68 polymorphism and head and neck squamous cell carcinoma risk – a case-control analysis

La acumulación de alteraciones genéticas y epigenéticas: un proceso causal clave entre el medio ambiente y las enfermedades de etiología compleja

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