Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
Department of Surgical Sciences, Bariatric Surgery Unit, University of Siena, Siena, Italy.
Obes Res Clin Pract. 2021 Jul-Aug;15(4):327-333. doi: 10.1016/j.orcp.2021.06.008. Epub 2021 Jun 25.
This study aimed to analyze 11 single nucleotide polymorphisms (SNPs) belonging to 9 genes involved in metabolic pathways (BDNF rs6265; PNPLA3 rs2294918 and rs2076212; CIDEA rs11545881; NTRK2 rs2289658; ALOX12 rs1126667; ALOX12B rs2304908; LEPR rs1137101; CPT1B rs470117 and rs8142477; rs2305507 CPT1A) in obese patients and controls.
Polymorphisms were analyzed in 300 severe obese patients undergoing bariatric surgery (body mass index >30 kg/m) and 404 control subjects in order to evaluate their association with obesity and clinical variables.
Our findings showed significant differences for the allelic distributions of CPT1B rs470117 and LEPR rs11371010 in obese subjects compared to controls. The BDNF rs6265 correlates with obesity only when associated with the other two SNPs. In particular, for CPT1B rs470117 and LEPR rs1137101, the rare allele was associated with a reduced risk of developing the obese phenotype, whereas the simultaneous presence of the common C allele for rs470117 and A allele for rs1137101 was more frequent in obese patients (p = 0.002, OR = 1.417). A significant association between CPT1B rs470117 and steatosis was found. Moreover, we observed that by associating the rare allele T of the BDNF rs6265 with the most common alleles of the SNPs CPT1B rs470117 and LEPR rs1137101, the combination of T-C-A alleles was associated with a higher risk of developing an obese phenotype (p = 0.001, OR = 1.6679).
Our results suggest that SNPs CPT1B rs470117 and LEPR rs1137101 taken individually and in association with BDNF rs6265 may be involved in an increased risk of developing obese phenotype in an Italian cohort.
本研究旨在分析 9 个代谢途径相关基因中的 11 个单核苷酸多态性（SNP）（BDNF rs6265；PNPLA3 rs2294918 和 rs2076212；CIDEA rs11545881；NTRK2 rs2289658；ALOX12 rs1126667；ALOX12B rs2304908；LEPR rs1137101；CPT1B rs470117 和 rs8142477；rs2305507 CPT1A）在肥胖患者和对照者中的分布。
对 300 例接受减肥手术（体重指数＞30kg/m）的严重肥胖患者和 404 例对照者进行了多态性分析，以评估其与肥胖和临床变量的关系。
与对照组相比，肥胖患者 CPT1B rs470117 和 LEPR rs11371010 的等位基因分布存在显著差异。BDNF rs6265 与肥胖相关，仅当与另外两个 SNP 相关联时才具有相关性。特别是，CPT1B rs470117 和 LEPR rs1137101 的罕见等位基因与肥胖表型的发生风险降低相关，而 rs470117 的常见 C 等位基因和 rs1137101 的 A 等位基因同时存在于肥胖患者中更为常见（p=0.002，OR=1.417）。CPT1B rs470117 与脂肪变性之间存在显著相关性。此外，我们发现，将 BDNF rs6265 的罕见等位基因 T 与 CPT1B rs470117 和 LEPR rs1137101 的最常见等位基因结合，T-C-A 等位基因的组合与肥胖表型发生的风险增加相关（p=0.001，OR=1.6679）。
我们的研究结果表明，CPT1B rs470117 和 LEPR rs1137101 单独以及与 BDNF rs6265 联合，可能与意大利人群中肥胖表型发生风险的增加有关。
