AlAmrani Aishah, AbdelKarim Mouaadh, AlZoghaibi Mohammed
Department of Physiology, Faculty of Medicine, King Saud University, Riyadh 11461, Saudi Arabia.
Faculty of Applied Medical Sciences, Tabuk University, Tabuk 47914, Saudi Arabia.
J Clin Med. 2018 Jun 8;7(6):141. doi: 10.3390/jcm7060141.
The PR domain containing 16 () gene and the Phosphodiesterase 4D () gene are both an essential regulators in the thermogenesis process in the brown adipose tissues (BAT). The influence of polymorphisms in those genes on obesity and blood lipids profile is unknown particularly in the Saudi population, so the current study is aiming to explore that.
A case control format was used that involved 89 obese individual and 84 non-obese (control). The () and () polymorphisms were genotyped using KASP™ (Competitive Allele-Specific PCR) method.
The distributions of the AA, GG, and AG genotypes of () polymorphism were 0.19, 0.26 and 0.54, respectively. While the distribution of the mutated allele A was 0.7 in the obese group comparing to 0.34 in the non-obese group. Participants with the mutated genotypes, AA and AG, of () polymorphism were significantly more likely to be obese as compared to participants with wild type genotype (OR = 21, 95% CI = 5.4190 to 84.4231, value < 0.0001 and OR = 44.6, 95% CI = 11.5984 to 172.0157, value < 0.0001, respectively). The wild type GG genotype of this polymorphism was associated with higher blood cholesterol, HDL and LDL but lower blood triglyceride compared with the mutated genotypes ( = 0.003, = 0.008, = 0.02 and = 0.003, respectively). In contrast, () polymorphism was not associated with risk of obesity and had no effects on blood lipids profile.
We found that the PRDM16 polymorphism () is a risk factor for obesity and influence blood lipids profiles significantly in Saudi population. While the () polymorphism didn’t show significant effect on risk of obesity or blood lipids profiles.
含PR域的16（PRDM16）基因和磷酸二酯酶4D（PDE4D）基因都是棕色脂肪组织（BAT）产热过程中的重要调节因子。这些基因多态性对肥胖和血脂谱的影响尚不清楚，尤其是在沙特人群中，因此本研究旨在对此进行探索。
采用病例对照研究形式，纳入89名肥胖个体和84名非肥胖个体（对照）。使用KASP™（竞争性等位基因特异性PCR）方法对PRDM16和PDE4D多态性进行基因分型。
PRDM16多态性的AA、GG和AG基因型分布分别为0.19、0.26和0.54。肥胖组中突变等位基因A的分布为0.7，而非肥胖组为0.34。与野生型基因型参与者相比，PRDM16多态性的突变基因型AA和AG参与者肥胖的可能性显著更高（OR = 21，95%CI = 5.4190至84.4231，P值<0.0001；OR = 44.6，95%CI = 11.5984至172.0157，P值<0.0001）。与突变基因型相比，该多态性的野生型GG基因型与较高的血胆固醇、高密度脂蛋白和低密度脂蛋白相关，但血甘油三酯较低（P值分别为0.003、0.008、0.02和0.003）。相比之下，PDE4D多态性与肥胖风险无关，对血脂谱也无影响。
我们发现PRDM16多态性（PRDM16）是沙特人群肥胖的危险因素，并显著影响血脂谱。而PDE4D多态性对肥胖风险或血脂谱未显示出显著影响。
