We have prioritised a single nucleotide polymorphism (SNP) rs2645294 as one candidate functional SNP in the TBX15-WARS2 waist-hip-ratio locus using posterior probability analysis. This SNP is located in the 3′ untranslated region of the WARS2 (tryptophanyl tRNA synthetase 2, mitochondrial) gene with which it has an expression quantitative trait in subcutaneous white adipose tissue. We show that transcripts of the WARS2 gene in a human white adipose cell line, heterozygous for the rs2645294 SNP, showed allelic imbalance. We tested whether the rs2645294 SNP altered WARS2 RNA stability using three different methods: actinomycin-D inhibition and RNA decay, mature and nascent RNA analysis and luciferase reporter assays. We found no evidence of a difference in RNA stability between the rs2645294 alleles indicating that the allelic expression imbalance was likely due to transcriptional regulation.

我们使用后验概率分析优先考虑单核苷酸多态性 (SNP) rs2645294 作为TBX15-WARS2腰臀比基因座中的一个候选功能性 SNP。该SNP位于WARS2（色氨酸tRNA合成酶2，线粒体）基因的3'非翻译区，在皮下白色脂肪组织中具有表达数量特征。我们发现，人类白色脂肪细胞系中 rs2645294 SNP 杂合的WARS2基因转录本表现出等位基因不平衡。我们使用三种不同的方法测试了 rs2645294 SNP 是否改变了WARS2 RNA 稳定性：放线菌素-D 抑制和 RNA 衰减、成熟和新生 RNA 分析以及荧光素酶报告基因测定。我们没有发现 rs2645294 等位基因之间 RNA 稳定性存在差异的证据，表明等位基因表达失衡可能是由于转录调控所致。