Distribution of GSTM1, GSTT1, GSTP1 and TP53 disease-associated gene variants in native and urban Venezuelan populations
The contemporary Venezuelan population is the product of major admixture process across various historical events, which has provided it a particular genetic background. The aim of this study concerns the analysis of glutathione S-transferase (GST) GSTM1, GSTP1 and GSTT1 genetic variants and five po...
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Published in | Gene Vol. 531; no. 1; pp. 106 - 111 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
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Elsevier B.V
15.11.2013
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Abstract | The contemporary Venezuelan population is the product of major admixture process across various historical events, which has provided it a particular genetic background. The aim of this study concerns the analysis of glutathione S-transferase (GST) GSTM1, GSTP1 and GSTT1 genetic variants and five polymorphisms at the TP53 gene, which are related to cancer susceptibility, in an urban/admixed population and five Amerindian tribes (Bari, Panare, Pemon, Warao and Wayuu) from Venezuela. Genotyping was carried out in 120 individuals from an urban sample and 188 Amerindians. The analysis performed on TP53 haplotype and GST allele distribution showed a close correlation for Pemon and Warao populations, while Bari group appears isolated from the other populations. GSTT1 null variant frequency in our admixed (11%) and native samples (0.0–11.4%) was lower when compared with Caucasians, Africans and Asians. Frequency of the GSTP1*Val cancer-associated allele found in Bari (88.6%) and Panare (63.0%) is of the highest so far reported. Fourteen TP53 haplotypes were observed in the admixed populations, whereas only 3 to 5 in Amerindians. To our knowledge this is the first report of GST polymorphisms and TP53 haplotype distribution in Venezuelans. The distribution of most of analyzed polymorphisms in the urban sample is consistent with the admixed origin of the present-day population of Venezuela. While, the inter-ethnic variations in genetic polymorphisms found in Native American tribes seem to be the result of the influence of demographic factors. These results provide additional data for undertaking ethnographic and disease association studies in Venezuela.
•First report of the distribution of GST and TP53 variants in Venezuelan populations.•The data may provide a basic database for the future clinical and genetic studies.•Results are consistent with the admixed origin of the population of Venezuela.•Frequency of the GSTP1*Val risk-associated allele are of the highest so far reported.•SMTNL2 is highly expressed in skeletal muscle and several other tissues. |
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AbstractList | The contemporary Venezuelan population is the product of major admixture process across various historical events, which has provided it a particular genetic background. The aim of this study concerns the analysis of glutathione S-transferase (GST) GSTM1, GSTP1 and GSTT1 genetic variants and five polymorphisms at the TP53 gene, which are related to cancer susceptibility, in an urban/admixed population and five Amerindian tribes (Bari, Panare, Pemon, Warao and Wayuu) from Venezuela. Genotyping was carried out in 120 individuals from an urban sample and 188 Amerindians. The analysis performed on TP53 haplotype and GST allele distribution showed a close correlation for Pemon and Warao populations, while Bari group appears isolated from the other populations. GSTT1 null variant frequency in our admixed (11%) and native samples (0.0–11.4%) was lower when compared with Caucasians, Africans and Asians. Frequency of the GSTP1*Val cancer-associated allele found in Bari (88.6%) and Panare (63.0%) is of the highest so far reported. Fourteen TP53 haplotypes were observed in the admixed populations, whereas only 3 to 5 in Amerindians. To our knowledge this is the first report of GST polymorphisms and TP53 haplotype distribution in Venezuelans. The distribution of most of analyzed polymorphisms in the urban sample is consistent with the admixed origin of the present-day population of Venezuela. While, the inter-ethnic variations in genetic polymorphisms found in Native American tribes seem to be the result of the influence of demographic factors. These results provide additional data for undertaking ethnographic and disease association studies in Venezuela.
•First report of the distribution of GST and TP53 variants in Venezuelan populations.•The data may provide a basic database for the future clinical and genetic studies.•Results are consistent with the admixed origin of the population of Venezuela.•Frequency of the GSTP1*Val risk-associated allele are of the highest so far reported.•SMTNL2 is highly expressed in skeletal muscle and several other tissues. The contemporary Venezuelan population is the product of major admixture process across various historical events, which has provided it a particular genetic background. The aim of this study concerns the analysis of glutathione S-transferase (GST) GSTM1, GSTP1 and GSTT1 genetic variants and five polymorphisms at the TP53 gene, which are related to cancer susceptibility, in an urban/admixed population and five Amerindian tribes (Bari, Panare, Pemon, Warao and Wayuu) from Venezuela. Genotyping was carried out in 120 individuals from an urban sample and 188 Amerindians. The analysis performed on TP53 haplotype and GST allele distribution showed a close correlation for Pemon and Warao populations, while Bari group appears isolated from the other populations. GSTT1 null variant frequency in our admixed (11%) and native samples (0.0-11.4%) was lower when compared with Caucasians, Africans and Asians. Frequency of the GSTP1*Val cancer-associated allele found in Bari (88.6%) and Panare (63.0%) is of the highest so far reported. Fourteen TP53 haplotypes were observed in the admixed populations, whereas only 3 to 5 in Amerindians. To our knowledge this is the first report of GST polymorphisms and TP53 haplotype distribution in Venezuelans. The distribution of most of analyzed polymorphisms in the urban sample is consistent with the admixed origin of the present-day population of Venezuela. While, the inter-ethnic variations in genetic polymorphisms found in Native American tribes seem to be the result of the influence of demographic factors. These results provide additional data for undertaking ethnographic and disease association studies in Venezuela. |
Author | Santiago, Laskhmi Borjas, Lisbeth Torres, Keila Chiurillo, Miguel Angel Moran, Yeinmy Griman, Pedro |
Author_xml | – sequence: 1 givenname: Miguel Angel surname: Chiurillo fullname: Chiurillo, Miguel Angel email: mchiurillo@ucla.edu.ve organization: Laboratorio de Genetica Molecular, Decanato de Ciencias de la Salud, Universidad Centroccidental Lisandro Alvarado, Barquisimeto, Venezuela – sequence: 2 givenname: Pedro surname: Griman fullname: Griman, Pedro organization: Laboratorio de Genetica Molecular, Decanato de Ciencias de la Salud, Universidad Centroccidental Lisandro Alvarado, Barquisimeto, Venezuela – sequence: 3 givenname: Laskhmi surname: Santiago fullname: Santiago, Laskhmi organization: Laboratorio de Genetica Molecular, Decanato de Ciencias de la Salud, Universidad Centroccidental Lisandro Alvarado, Barquisimeto, Venezuela – sequence: 4 givenname: Keila surname: Torres fullname: Torres, Keila organization: Laboratorio de Genetica Molecular, Decanato de Ciencias de la Salud, Universidad Centroccidental Lisandro Alvarado, Barquisimeto, Venezuela – sequence: 5 givenname: Yeinmy surname: Moran fullname: Moran, Yeinmy organization: Laboratorio de Genetica Molecular, Decanato de Ciencias de la Salud, Universidad Centroccidental Lisandro Alvarado, Barquisimeto, Venezuela – sequence: 6 givenname: Lisbeth surname: Borjas fullname: Borjas, Lisbeth organization: Laboratorio de Genética Molecular, Universidad del Zulia, Maracaibo, Venezuela |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/23994684$$D View this record in MEDLINE/PubMed |
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CitedBy_id | crossref_primary_10_2147_PGPM_S274741 crossref_primary_10_1590_1678_4685_gmb_2016_0142 crossref_primary_10_1016_j_heliyon_2019_e02815 crossref_primary_10_1155_2014_867069 |
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Keywords | GSTM1 GSTP1 GSTs GSTT1 Venezuelan population Amerindians SNP DNA HWE LD TP53 PCR RFLP glutathione S-transferase T1 glutathione S-transferase P1 glutathione S-transferase M1 restriction fragment length polymorphism Hardy–Weinberg equilibrium deoxyribonucleic acid single-nucleotide polymorphism polymerase chain reaction glutathione S-transferases linkage disequilibrium |
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SubjectTerms | Alleles Amerindians Gene Frequency Genetic Variation Genotype Glutathione S-Transferase pi - genetics Glutathione Transferase - genetics GSTM1 GSTP1 GSTT1 Humans Mutation Neoplasms - genetics TP53 Tumor Suppressor Protein p53 - genetics Venezuela - ethnology Venezuelan population |
Title | Distribution of GSTM1, GSTT1, GSTP1 and TP53 disease-associated gene variants in native and urban Venezuelan populations |
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