Population, Epidemiological, and Functional Genetics of Gastric Cancer Candidate Genes in Peruvians with Predominant Amerindian Ancestry

Zamudio, Roxana; Pereira, Leandro de Mattos; Rocha, Cleonice; Berg, Douglas E.; Muniz-Queiroz, Thaís; Anna, Hanaisa P. Sant; Cabrera, Lilia; Combe, J; Herrera, Phabiola; Jahuira, Martha; Leão, Felipe B.; Lyon, Fernanda; Prado, Wiliam A.; Rodrigues, Maíra R.; Rodrigues‐Soares, Fernanda; Santolalla, Meddly L.; Zolini, Camila; Silva, Aristóbolo M.; Gilman, Robert H.; Tarazona‐Santos, Eduardo; Kehdy, Fernanda S. G.

doi:10.1007/s10620-015-3859-6

Cited by 11 publications

(5 citation statements)

References 45 publications

(52 reference statements)

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“…Despite the absence of epidemiological data, recent studies demonstrate that different forms of cancer are associated with a higher (or lower) contribution from Native American ancestry in admixed populations from South America. The investigations were associated with acute lymphoblastic leukaemia [ 44 ], breast cancer [ 45 ] and gastric cancer [ 45 – 47 ].…”

Section: Discussionmentioning

confidence: 99%

Distribution of allelic and genotypic frequencies of IL1A, IL4, NFKB1 and PAR1 variants in Native American, African, European and Brazilian populations

et al. 2016

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Background The inflammatory response plays a key role at different stages of cancer development. Allelic variants of the interleukin 1A (IL1A), interleukin 4 (IL4), nuclear factor kappa B1 (NFKB1) and protease-activated receptor 1 (PAR1) genes may influence not only the inflammatory response but also susceptibility to cancer development. Among major ethnic or continental groups, these polymorphic variants present different allelic frequencies. In admixed populations, such as the Brazilian population, data on distribution of these polymorphisms are limited. Here, we collected samples of cancer-free individuals from the north, northeast, midwest, south and southeast regions of Brazil and from the three main groups that gave rise to the Brazilian population: Native Americans from the Brazilian Amazon, Africans and Europeans. We describe the allelic distributions of four IL1A (rs3783553), IL4 (rs79071878), NFKB1 (rs28362491) and PAR1 (rs11267092) gene polymorphisms, which the literature describes as polymorphisms with a risk of cancer or worse prognosis for cancer.ResultsThe genotypic distribution of the four polymorphisms was statistically distinct between Native Americans, Africans and Europeans. For the allelic frequency of these polymorphisms, the Native American population was the most distinct among the three parental populations, and it included the greatest number of alleles with a risk of cancer or worse prognosis for cancer. The PAR1 gene polymorphism allelic distribution was similar among all Brazilian regions. For the other three markers, the northern region population was statistically distinct from other Brazilian region populations.ConclusionThe IL1A, IL4, NFKB1 and PAR1 gene polymorphism allelic distributions are homogeneous among the regional Brazilian populations, except for the northern region, which significantly differs from the other four Brazilian regions. Among the parental populations, the Native American population exhibited a higher incidence of alleles with risk of cancer or worse prognosis for cancer, which can indicate greater susceptibility to this disease. These genetic data may be useful for future studies on the association between these polymorphisms and cancer in the investigated populations.

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Section: Discussionmentioning

confidence: 99%

Distribution of allelic and genotypic frequencies of IL1A, IL4, NFKB1 and PAR1 variants in Native American, African, European and Brazilian populations

et al. 2016

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“…Among the 24 included publications (Table 2 [ 27 - 49 ]), 11 were reports on gastric cancer and 13 on colorectal cancer; 14 were studies in Asian populations, 8 in Caucasian populations, and 2 in mixed populations. The HWE examination results of the distribution of genotypes in the control group are shown in Table 2 .…”

Section: Resultsmentioning

confidence: 99%

Association between COX-2 -1195G>A polymorphism and gastrointestinal cancer risk: A meta-analysis

Zhang¹,

Li²,

Jiang³

et al. 2017

WJG

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AIMTo perform a meta-analysis to investigate the association between cyclooxygenase-2 (COX-2) -1195G>A gene polymorphism and gastrointestinal cancers.METHODSPublications related to the COX-2 -1195G>A gene polymorphism and gastrointestinal cancers published before July 2016 were retrieved from PubMed, EMBASE, Web of Science, China Biological Medicine Database, China National Knowledge Infrastructure, and CQVIP Database. Meta-analysis was performed using Stata11.0 software. The strength of the association was evaluated by calculating the combined odds ratios (ORs) and the corresponding 95%CIs. The retrieved publications were excluded or included one by one for sensitivity analysis. In addition, the funnel plot, Begg’s rank correlation test, and Egger’s linear regression method were applied to analyse whether the included publications had publication bias.RESULTSA total of 24 publications related to the COX-2 -1195G>A gene polymorphism were included, including 28 studies involving 11043 cases and 18008 controls. The meta-analysis results showed that the COX-2 -1195G>A gene polymorphism significantly correlated with an increased risk of gastrointestinal cancers, particularly gastric cancer (A vs G: OR = 1.35; AA/AG vs GG: OR = 1.54; AA vs GG/AG: OR = 1.43; AA vs GG: OR = 1.80; AG vs GG: OR = 1.35). Compared to the Caucasian population in America and Europe, the COX-2 -1195G>A gene polymorphism in the Asian population (A vs G: OR = 1.30; AA/AG vs GG: OR = 1.50; AA vs GG/AG: OR = 1.35; AA vs GG: OR = 1.71; AG vs GG: OR = 1.37) significantly increased gastrointestinal cancer risk. The sensitivity analysis (P < 0.05) and the false positive report probability (P < 0.2) confirmed the reliability of the results.CONCLUSIONThe results showed that the COX-2 -1195G>A gene polymorphism might be a potential risk factor for gastrointestinal cancers. Further validation by a large homogeneous study is warranted.

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“…For instance, a large study which included 362 GC patients from Lima, Peru fond that IRF4 (OMIM #601900), ELMO1 (OMIM #606420), CLIP4 (OMIM #605736) and MSC (OMIM #603628) promoter methylation coupled with a GDMI > 4 are useful molecular tools for GC risk stratification in endoscopic biopsies (Pirini et al, ). An interesting study in native Peruvians (Quechuas from the Central Andes) did not found an association between candidate SNPs and GC (Zamudio et al, ).…”

Section: Healthcare Services Of Genetics and Genomicsmentioning

confidence: 99%

Genetics and genomics in Peru: Clinical and research perspective

Guio

Poterico

Levano³

et al. 2018

Molec Gen & Gen Med

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Population, Epidemiological, and Functional Genetics of Gastric Cancer Candidate Genes in Peruvians with Predominant Amerindian Ancestry

Abstract: Our updated meta-analysis reinforces the role of PTGS2-rs689466-A in gastric cancer in Asians, although more studies that control for ancestry are necessary to clarify its role in Latin Americans. Finally, we suggest that IL8RB-rs3890158G>A is a cis-regulatory SNP.

Cited by 11 publications

References 45 publications

Distribution of allelic and genotypic frequencies of IL1A, IL4, NFKB1 and PAR1 variants in Native American, African, European and Brazilian populations

Distribution of allelic and genotypic frequencies of IL1A, IL4, NFKB1 and PAR1 variants in Native American, African, European and Brazilian populations

Association between COX-2 -1195G>A polymorphism and gastrointestinal cancer risk: A meta-analysis

Genetics and genomics in Peru: Clinical and research perspective

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