Vafaeie Farzane, Kazemi Toba, Khosravi Saeede, Miri Moghaddam Ebrahim
Genetics, Cardiovascular Diseases Research Center, Birjand University of Medical Sciences, Birjand, IRN.
Cardiology, Cardiovascular Diseases Research Center, Birjand University of Medical Sciences, Birjand, IRN.
Cureus. 2021 Sep 5;13(9):e17730. doi: 10.7759/cureus.17730. eCollection 2021 Sep.
Background Dyslipidemia is a complex trait that is influenced by various genetic and environmental factors. While the exact cause of dyslipidemia is still unknown, some studies have shown that genetic factors such as single nucleotide polymorphisms (SNPs) have been primarily associated with dyslipidemia. Based on the available data, it appears that retinoid X receptor (RXR) genes are jointly or separately associated with lipid homeostasis and that SNPs may affect RXR gene functions in lipid metabolism. Methods To study the possible role of the RXR genes in genetic susceptibility of dyslipidemia, three selected polymorphisms, rs3132294 located in RXRA (RXR-alpha) gene and rs2651860 and rs1128977 located in RXRG (RXR-gamma) gene, were investigated in 391 individuals with the use of tetra-primer amplification refractory mutation system polymerase chain reaction (T-ARMS PCR) method. Results For the rs3132294 SNP, the genotype frequencies in the case group were GG 58.5%, GA 33.2%, and AA 8.3%, and in the control group, they were GG 51.8%, GA 36.3%, and AA 11.9%. The genotype distribution of rs2651860 SNP in the case group were TT 43.2%, TG 52.1%, and GG 4.7%, and in the control group, they were TT 50.8%, TG 46.2%, and GG 3%. Genotype frequencies for the rs1128977 SNP in the case group were CC 34.7%, CT 47.6% and TT 17.7%, compared with CC 37.8%, CT 44.3%, and TT 17.9% in the control group. When the clinical characteristics of the case and control groups were stratified by allele carrier status for each SNP, the rs1128977 SNP was associated with increased levels of HDL-cholesterol, body mass index, waist circumference, and diastolic blood pressure (P< 0.05). In contrast, the alleles of the rs2651860 and rs3132294 SNP were not associated with an increased prevalence of dyslipidemia or clinical characteristics in the case group compared to the control group. Conclusion The present study suggests that rs1128977 SNP in the RXRG gene may affect the clinical characteristics in cases. However, further genetics association studies on large samples are required to validate our findings.
血脂异常是一种复杂的性状，受多种遗传和环境因素影响。虽然血脂异常的确切病因尚不清楚，但一些研究表明，单核苷酸多态性（SNP）等遗传因素主要与血脂异常相关。根据现有数据，视黄酸X受体（RXR）基因似乎与脂质稳态联合或分别相关，且SNP可能影响RXR基因在脂质代谢中的功能。方法：为研究RXR基因在血脂异常遗传易感性中的可能作用，采用四引物扩增阻滞突变系统聚合酶链反应（T-ARMS PCR）方法，对391例个体中位于RXRA（RXR-α）基因的rs3132294以及位于RXRG（RXR-γ）基因的rs2651860和rs1128977这三个选定的多态性进行了研究。结果：对于rs3132294 SNP，病例组的基因型频率为GG 58.5%、GA 33.2%、AA 8.3%，对照组为GG 51.8%、GA 36.3%、AA 11.9%。rs2651860 SNP在病例组的基因型分布为TT 43.2%、TG 52.1%、GG 4.7%，对照组为TT 50.8%、TG 46.2%、GG 3%。rs1128977 SNP在病例组的基因型频率为CC 34.7%、CT 47.6%、TT 17.7%，对照组为CC 37.8%、CT 44.3%、TT 17.9%。当根据每个SNP的等位基因携带状态对病例组和对照组的临床特征进行分层时，rs1128977 SNP与高密度脂蛋白胆固醇水平、体重指数、腰围和舒张压升高相关（P<0.05）。相比之下，与对照组相比，rs2651860和rs3132294 SNP的等位基因与病例组血脂异常患病率增加或临床特征无关。结论：本研究表明，RXRG基因中的rs1128977 SNP可能影响病例的临床特征。然而，需要进一步进行大样本的遗传学关联研究来验证我们的发现。
