Phosphofructokinase, muscle (PFKM), a key glycolytic regulatory enzyme is a potential target for cancer therapeutic studies accredited to the employed inefficient phenomenon known as Warburg effect. PFKM is encoded by PFKM gene located at chromosome 12q13.11. Single nucleotide polymorphisms (SNPs) are known to profoundly affect gene expression and protein function. Therefore, the first attempt was made to computationally identify putative functional PFKM variants. These SNPs were further explored to find their probable association with different cancer types. A total of 9694 SNPs were retrieved from dbSNP database. Of which, only 85 validated SNPs with ≥10% minor allele frequency (MAF) were subjected to analysis by softwares including Ensembl Genome browser, FuncPred (SNPinfo), regulomeDB (v 2.0), SIFT and PolyPhen-2. The relative analysis of output obtained classified the selected-SNPs into 11 highly prioritized (HP), 20 moderately prioritized and 54 not/poorly prioritized SNPs. The 11 HP-SNPs were found to have the highest likelihood of being functionally important, evidenced by the previous association of rs2269935, rs11168417, rs11609399, and rs2228500 HP-SNPs with cachexia, lung, and breast cancer. The study warrants further experiments to confirm the predictive role of prioritized SNPs in cancer etiology and also provides directions to fellow researchers.

中文翻译：

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在计算机上分析人类磷酸果糖激酶，肌肉（PFKM）基因中的SNP：有氧糖酵解和癌症的明显治疗靶标

肌肉磷酸果糖激酶（PFKM）是一种关键的糖酵解调节酶，是公认的已采用低效现象（称为Warburg效应）的癌症治疗研究的潜在目标。PFKM由位于染色体12q13.11的PFKM基因编码。已知单核苷酸多态性（SNP）会深刻影响基因表达和蛋白质功能。因此，首次尝试以计算方式识别推定的功能性PFKM变体。对这些SNP进行了进一步探索，以发现它们可能与不同类型的癌症相关。从dbSNP数据库中检索到总共9694个SNP。其中，只有85个经过验证的SNP≥10％的次要等位基因频率（MAF）通过包括Ensembl Genome浏览器，FuncPred（SNPinfo），regulomeDB（v 2.0），SIFT和PolyPhen-2的软件进行分析。获得的输出的相对分析将选定的SNP分为11个高度优先（HP），20个中等优先和54个未/较差优先的SNP。发现11种HP-SNP具有重要功能的可能性最高，先前的rs2269935，rs11168417，rs11609399和rs2228500 HP-SNP与恶病质，肺癌和乳腺癌的关联就证明了这一点。这项研究值得进一步的实验，以确认优先SNPs在癌症病因学中的预测作用，并为其他研究人员提供指导。rs2228500 HP-SNPs与恶病质，肺癌和乳腺癌。这项研究值得进一步的实验，以确认优先SNPs在癌症病因学中的预测作用，并为其他研究人员提供指导。和rs2228500 HP-SNPs与恶病质，肺癌和乳腺癌。这项研究值得进一步的实验，以确认优先SNPs在癌症病因学中的预测作用，并为其他研究人员提供指导。