Mutiul HAQ, Mushtaq AHMAD, Fazal JALIL, Aftab Ali SHAH

Effect of variation in miRNA-binding site (rs8176318) of the BRCA1 gene in breast cancer patients

Background/aim: A variation in the 3 prime untranslated regions (3′-UTRs) affects the binding of microRNA (miRNA) to the breastcancer (BC) susceptibility gene 1 (BRCA1) gene, and thus regulate its expression. In this study, the consequences of a variation in themiRNA-binding site (rs8176318G>T) in the 3′-UTRs of BRCA1 and its association with the risk of BC were investigated.Materials and methods: The selected variation (rs8176318G>T) was genotyped in BC patients (n = 300) and healthy controls (n = 300)using allele-specific polymerase chain reaction (PCR) [tetra-primer amplification refractory mutation system-PCR (T-ARMS-PCR)].The results of the T-ARMS-PCR were further confirmed by Sanger sequencing through a random selection of 10% previously analyzedsamples by T-ARMS-PCR. Association of this variation with BC was tested by calculating the odds ratio (OR) (at 95% CI) and χ2-valueusing 4 different genetic models (codominant, dominant, recessive, and additive models).Results: Using Fisher’s exact test, a significant association between variant rs8176318 (G>T) and BC was found in codominant [χ2-value= 15.68, df: 2 P < 0.0004], dominant [OR = 1.557 (1.082–2.241), P

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