TP53 gene polymorphism: Importance to cancer, ethnicity and birth weight in a Brazilian cohort

Thurow, Helena Strelow; Haack, Ricardo Lanzetta; Hartwig, Fernando Pires; Oliveira, Isabel; Dellagostin, Odir A.; Gigante, Denise P.; Horta, Bernardo Lessa; Collares, Tiago; Seixas, Fabiana Kömmling

doi:10.1007/s12038-011-9147-5

Cited by 16 publications

(12 citation statements)

References 38 publications

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“…A careful review of the available literature strengthens the prioritization of TP53 over HES7 . In addition to relevant mouse mutant phenotypes (see Additional file 2) and [51–54], TP53 polymorphisms are associated with human birth weight [55], with mature size in sheep [13] and with human height [56]. …”

Section: Discussionmentioning

confidence: 99%

Combined GWAS and ‘guilt by association’-based prioritization analysis identifies functional candidate genes for body size in sheep

et al. 2017

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BackgroundBody size in sheep is an important indicator of productivity, growth and health as well as of environmental adaptation. It is a composite quantitative trait that has been studied with high-throughput genomic methods, i.e. genome-wide association studies (GWAS) in various mammalian species. Several genomic markers have been associated with body size traits and genes have been identified as causative candidates in humans, dog and cattle. A limited number of related GWAS have been performed in various sheep breeds and have identified genomic regions and candidate genes that partly account for body size variability. Here, we conducted a GWAS in Frizarta dairy sheep with phenotypic data from 10 body size measurements and genotypic data (from Illumina ovineSNP50 BeadChip) for 459 ewes.ResultsThe 10 body size measurements were subjected to principal component analysis and three independent principal components (PC) were constructed, interpretable as width, height and length dimensions, respectively. The GWAS performed for each PC identified 11 significant SNPs, at the chromosome level, one on each of the chromosomes 3, 8, 9, 10, 11, 12, 19, 20, 23 and two on chromosome 25. Nine out of the 11 SNPs were located on previously identified quantitative trait loci for sheep meat, production or reproduction. One hundred and ninety-seven positional candidate genes within a 1-Mb distance from each significant SNP were found. A guilt-by-association-based (GBA) prioritization analysis (PA) was performed to identify the most plausible functional candidate genes. GBA-based PA identified 39 genes that were significantly associated with gene networks relevant to body size traits. Prioritized genes were identified in the vicinity of all significant SNPs except for those on chromosomes 10 and 12. The top five ranking genes were TP53, BMPR1A, PIK3R5, RPL26 and PRKDC.ConclusionsThe results of this GWAS provide evidence for 39 causative candidate genes across nine chromosomal regions for body size traits, some of which are novel and some are previously identified candidates from other studies (e.g. TP53, NTN1 and ZNF521). GBA-based PA has proved to be a useful tool to identify genes with increased biological relevance but it is subjected to certain limitations.Electronic supplementary materialThe online version of this article (doi:10.1186/s12711-017-0316-3) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Combined GWAS and ‘guilt by association’-based prioritization analysis identifies functional candidate genes for body size in sheep

et al. 2017

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“…DNA extracted from formalin-fixed tissues increased the OR but its quality is poor and thus, can inhibit PCR amplification (Jee et al, 2004). Both variants have non conservative change (Thurow et al, 2011). The proportions of the Arg/Arg, Arg/Pro and Pro/Pro genotypes showed varying Kappa coefficients ranging from 0.49-0.63.…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms in TP53 (rs1042522), p16 (rs11515 and rs3088440) and NQO1 (rs1800566) Genes in Thai Cervical Cancer Patients with HPV 16 Infection

Chansaenroj

Theamboonlers²,

Junyangdikul³

et al. 2013

Asian Pacific Journal of Cancer Prevention

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The risk of cervical cancer development in women infected with HPV varies in relation to the individual host's genetic makeup. Many studies on polymorphisms as genetic factors have been aimed at analyzing associations with cervical cancer. In this study, single nucleotide polymorphisms (SNPs) in 3 genes were investigated in relation to cervical cancer progression in HPV16 infected women with lesions. Two thousand cervical specimens were typed by PCR sequencing methods for TP53 (rs1042522), p16 (rs11515 and rs3088440) and NQO1 (rs1800566). Ninety two HPV16 positive cases and thirty two normal cases were randomly selected. Analysis of TP53 (rs1042522

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“…As control for extracted DNA quality, the human TP53 gene PCR was performed, using the primers previously described (Lin et al , 2008). PCR were performed in a final reaction volume of 12 μL, and was carried out with one cycle 94 °C for 3 min, followed by 40 cycles at 94 °C for 30 s, 57 °C for 30, 72 °C for 30 s and a final extension for 3 min at 72 °C (Thurow et al , 2011). …”

Section: Methodsmentioning

confidence: 99%

High incidence of oncogenic HPV genotypes found in women from Southern Brazil

Entiauspe¹,

Silveira²,

Nunes³

et al. 2014

Braz. J. Microbiol.

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Oncogenic HPV genotypes are strongly associated with premalignant and malignant cervical lesion. The purpose was to determine human papillomavirus (HPV) prevalence and genotypes, and to estimate cervical cancer risk factor associations. Cervical samples were obtained from 251 women seeking gynecological care at the Pelotas School of Medicine Clinic. This is a cross-sectional study. HPV-DNA was amplified by nested-PCR using MY09/11 and GP5/6 primers, and the sequencing was used for genotyping. Sociodemographic and behavioral risk factors were obtained by closed questionnaire, and its relationship to HPV infection prevalence were analyzed. Statistical analyses were performed using SPSS 16.0 software, and differences were considered significant at p < 0.05. As results, the prevalence of HPV infection was 29.9%. The most frequent genotype was HPV-16 (41.3%), followed by HPV-18 (17.3%), and HPV-33 (9.3%). Others nine HPV genotypes were also found. On this population, prevalence of oncogenic HPV genotypes was high, but does not seem to confer relationship with the risk factors investigated. Future investigations in larger populations are necessary, for the proposition of more appropriated monitoring strategies and treatment according to the Brazilian health service reality, as well as patients.

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TP53 gene polymorphism: Importance to cancer, ethnicity and birth weight in a Brazilian cohort

Cited by 16 publications

References 38 publications

Combined GWAS and ‘guilt by association’-based prioritization analysis identifies functional candidate genes for body size in sheep

Combined GWAS and ‘guilt by association’-based prioritization analysis identifies functional candidate genes for body size in sheep

Polymorphisms in TP53 (rs1042522), p16 (rs11515 and rs3088440) and NQO1 (rs1800566) Genes in Thai Cervical Cancer Patients with HPV 16 Infection

High incidence of oncogenic HPV genotypes found in women from Southern Brazil

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