Azizi Shahryar, Esmaeili Motlagh Parisa, Eslami Solat, Ghafouri-Fard Soudeh
Department of Surgery, Erfan Niayesh Hospital, Tehran, Iran.
Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Biochem Genet. 2025 Apr;63(2):1448-1458. doi: 10.1007/s10528-024-10768-8. Epub 2024 Apr 3.
RORα is a transcription factor encoded by RORA gene. This protein is involved in several metabolic conditions, including obesity. We assessed association between two polymorphisms within this gene (namely rs11639084 and rs4774388) and severe obesity in Iranian population. Both SNPs were associated with obesity in all models (P < 0.0001) except for over-dominant model. T allele of rs11639084 was associated with this trait with OR (95% CI) of 16.85 (13.11-21.67) and was considered as the risk allele. Allelic model best fit the data, since the AIC value for this model was the highest (AIC = 28.82). In the co-dominant model, TT genotype was associated with obesity with OR (95% CI) of 301.6 (137.4-662.1). This genotype was shown to be the risk genotype in the recessive model when compared with TC+CC (OR (95% CI) = 60.54 (30.35-120.7)). The C allele of rs4774388 was shown to be the risk allele with OR (95% CI) of 4.61 (3.72-5.71). In the recessive model, the CC genotype was associated with the mentioned trait with OR (95% CI) of 9.92 (6.62-14.8). This model best fit the data (AIC = 37.08). Cumulatively, the current study suggests contribution of RORα to the pathogenesis of obesity.
RORα是一种由RORA基因编码的转录因子。这种蛋白质参与多种代谢状况，包括肥胖。我们评估了该基因内的两个多态性位点（即rs11639084和rs4774388）与伊朗人群严重肥胖之间的关联。除超显性模型外，在所有模型中这两个单核苷酸多态性均与肥胖相关（P < 0.0001）。rs11639084的T等位基因与该性状相关，其比值比（95%可信区间）为16.85（13.11 - 21.67），被视为风险等位基因。等位基因模型最符合数据，因为该模型的赤池信息准则值最高（AIC = 28.82）。在共显性模型中，TT基因型与肥胖相关，比值比（95%可信区间）为301.6（137.4 - 662.1）。与TC + CC相比，该基因型在隐性模型中显示为风险基因型（比值比（95%可信区间）= 60.54（30.35 - 120.7））。rs4774388的C等位基因显示为风险等位基因，比值比（95%可信区间）为4.61（3.72 - 5.71）。在隐性模型中，CC基因型与上述性状相关，比值比（95%可信区间）为9.92（6.62 - 14.8）。该模型最符合数据（AIC = 37.08）。总体而言，当前研究表明RORα对肥胖发病机制有作用。
