Single Nucleotide Polymorphism in <i>hsa-mir-196a-2</i> and Breast Cancer Risk: A Case Control Study

Jedlinski, Dominik J.; Gabrovska, Pam; Weinstein, Stephen R.; Smith, Robert A.; Griffiths, Lyn R.

doi:10.1375/twin.14.5.417

Cited by 49 publications

(32 citation statements)

References 18 publications

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“…This was mimicked by another group who found statistically significant association between the T allele and decreased cancer risk (22). However, these results have been disputed by additional studies which found no significant association between the polymorphism and breast cancer risk (23)(24)(25).…”

Section: Polymorphisms Within Mirnasmentioning

confidence: 90%

miRNA Dysregulation in Breast Cancer

et al. 2013

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miRNAs have emerged, in the last decade, as key players in the carcinogenic process, with many candidates identified as playing important roles in many aspects of tumor development, growth, metastasis, and drug resistance. More recently, polymorphisms in miRNAs themselves or in their binding sites in target genes have been identified to incur increased risk of breast cancer in certain populations. In addition, epigenetic regulation and differential expression of processing enzymes has been shown to contribute to the aberrant expression of miRNAs in breast cancer. This review focuses on the area of miRNA dysregulation in breast cancer through both genetic and epigenetic mechanisms, and the impact of this dysregulation on breast cancer risk and resistance to therapies. Cancer Res; 73(22); 6554-62. Ó2013 AACR.

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Section: Polymorphisms Within Mirnasmentioning

confidence: 90%

miRNA Dysregulation in Breast Cancer

et al. 2013

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“…Second, the hsa-mir-196a-2 SNP rs11614913 CC genotype has been significantly associated with increased risk for breast, lung and gastric cancers in Chinese populations; conversely, the homozygous TT genotype has been significantly associated with esophageal cancer in non-smoking European males [48]. Based on these results, recent studies have called for more detailed analysis of the frequency of this allele in different ethnic groups [58]. We observed a significantly higher frequency of the hsa-mir-196a-2 C-allele at SNP rs11614913 in African compared to non-African populations (F ST = 0.41; p < 0.001) (Figure 5D).…”

Section: Discussionmentioning

confidence: 99%

Global population-specific variation in miRNA associated with cancer risk and clinical biomarkers

2014

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BackgroundMiRNA expression profiling is being actively investigated as a clinical biomarker and diagnostic tool to detect multiple cancer types and stages as well as other complex diseases. Initial investigations, however, have not comprehensively taken into account genetic variability affecting miRNA expression and/or function in populations of different ethnic backgrounds. Therefore, more complete surveys of miRNA genetic variability are needed to assess global patterns of miRNA variation within and between diverse human populations and their effect on clinically relevant miRNA genes.MethodsGenetic variation in 1524 miRNA genes was examined using whole genome sequencing (60x coverage) in a panel of 69 unrelated individuals from 14 global populations, including European, Asian and African populations.ResultsWe identified 33 previously undescribed miRNA variants, and 31 miRNA containing variants that are globally population-differentiated in frequency between African and non-African populations (PD-miRNA). The top 1% of PD-miRNA were significantly enriched for regulation of genes involved in glucose/insulin metabolism and cell division (p < 10−7), most significantly the mitosis pathway, which is strongly linked to cancer onset. Overall, we identify 7 PD-miRNAs that are currently implicated as cancer biomarkers or diagnostics: hsa-mir-202, hsa-mir-423, hsa-mir-196a-2, hsa-mir-520h, hsa-mir-647, hsa-mir-943, and hsa-mir-1908. Notably, hsa-mir-202, a potential breast cancer biomarker, was found to show significantly high allele frequency differentiation at SNP rs12355840, which is known to affect miRNA expression levels in vivo and subsequently breast cancer mortality.ConclusionMiRNA expression profiles represent a promising new category of disease biomarkers. However, population specific genetic variation can affect the prevalence and baseline expression of these miRNAs in diverse populations. Consequently, miRNA genetic and expression level variation among ethnic groups may be contributing in part to health disparities observed in multiple forms of cancer, specifically breast cancer, and will be an essential consideration when assessing the utility of miRNA biomarkers for the clinic.

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“…The diamond represents the pooled OR and 95% CI. Begg lung cancer [30][31][32][33][34], breast cancer [35][36][37][38][39][40], gastric cancer [41,42], liver cancer [43][44][45][46], gallbladder cancer [47,48], prostate cancer [47,49], esophageal cancer [50][51][52][53], head and neck cancer [54][55][56], cervical cancer [57], and glioma [58]. But the results remain conflicting and conclusive.…”

Section: Discussionmentioning

confidence: 99%