Department of Clinical and Experimental Medicine, Section of Internal Medicine, Gerontology and Clinical Nutrition, University of Ferrara, Ferrara, Italy.
Cardiovasc Diabetol. 2011 Dec 14;10:112. doi: 10.1186/1475-2840-10-112.
Metabolic Syndrome (MetS) results from the combined effect of environmental and genetic factors. We investigated the possible association of peroxisome proliferator-activated receptor-γ2 (PPARγ2) Pro12Ala and Angiotensin Converting Enzyme (ACE) I/D polymorphisms with MetS and interaction between these genetic variants.
Three hundred sixty four unrelated Caucasian subjects were enrolled. Waist circumference, blood pressure, and body mass index (BMI) were recorded. Body composition was estimated by impedance analysis; MetS was diagnosed by the NCEP-ATPIII criteria. A fasting blood sample was obtained for glucose, insulin, lipid profile determination, and DNA isolation for genotyping.
The prevalence of MetS did not differ across PPARγ2 or ACE polymorphisms. Carriers of PPARγ2 Ala allele had higher BMI and fat-mass but lower systolic blood pressure compared with Pro/Pro homozygotes. A significant PPARγ2 gene-gender interaction was observed in the modulation of BMI, fat mass, and blood pressure, with significant associations found in women only. A PPARγ2-ACE risk genotype combination for BMI and fat mass was found, with ACE DD/PPARγ2 Ala subjects having a higher BMI (p = 0.002) and Fat Mass (p = 0.002). Pro12Ala was independently associated with waist circumference independent of BMI and gender.
Carriers of PPARγ2 Ala allele had higher BMI and fat-mass but not a worse metabolic profile, possibly because of a more favorable adipose tissue distribution. A gene interaction exists between Pro12Ala and ACE I/D on BMI and fat mass. Further studies are needed to assess the contribution of Pro12Ala polymorphism in adiposity distribution.
代谢综合征（MetS）是环境和遗传因素共同作用的结果。我们研究了过氧化物酶体增殖物激活受体-γ2（PPARγ2）Pro12Ala 和血管紧张素转化酶（ACE）I/D 多态性与 MetS 的可能关联以及这些遗传变异之间的相互作用。
纳入 364 例无关的白种人受试者。记录腰围、血压和体重指数（BMI）。通过阻抗分析估计身体成分；采用 NCEP-ATPIII 标准诊断 MetS。抽取空腹血样用于血糖、胰岛素、血脂谱测定和 DNA 分离用于基因分型。
PPARγ2 或 ACE 多态性之间的 MetS 患病率无差异。与 Pro/Pro 纯合子相比，PPARγ2 Ala 等位基因携带者的 BMI 和脂肪量更高，但收缩压更低。在 BMI、脂肪量和血压的调节中观察到 PPARγ2 基因-性别相互作用，仅在女性中发现有显著关联。发现了与 BMI 和脂肪量相关的 PPARγ2-ACE 风险基因型组合，ACE DD/PPARγ2 Ala 受试者的 BMI（p=0.002）和脂肪量（p=0.002）更高。Pro12Ala 与 BMI 和性别独立相关，与腰围相关，而与 BMI 无关。
PPARγ2 Ala 等位基因携带者的 BMI 和脂肪量较高，但代谢谱没有恶化，可能是由于脂肪组织分布更有利。Pro12Ala 和 ACE I/D 之间存在基因相互作用，影响 BMI 和脂肪量。需要进一步研究来评估 Pro12Ala 多态性在脂肪分布中的贡献。
