基因多态性与体重调节有关吗？一项横断面研究。
Are gene polymorphisms associated with body mass regulation? A cross-sectional study.
作者信息
Martínez-Barquero Vanesa, Marco Griselda de, Martínez-Hervas Sergio, Adam-Felici Victoria, Pérez-Soriano Cristina, Gonzalez-Albert Verónica, Rojo Gemma, Ascaso Juan Francisco, Real José Tomás, Garcia-Garcia Ana Barbara, Martín-Escudero Juan Carlos, Cortes Raquel, Chaves Felipe Javier
机构信息
Department of Medicine, University of Valencia, Valencia, Spain.
Department of Genomic and Genetic Diagnosis Unit, Hospital Clínico Research Foundation (INCLIVA), Valencia, Spain.
出版信息
BMJ Open. 2017 Nov 15;7(11):e017875. doi: 10.1136/bmjopen-2017-017875.
OBJECTIVES
To investigate the association between and body mass index (BMI) and obesity and to verify the effect of a polymorphism in the microRNA136 (MIR136) binding region.
DESIGN
We analysed samples from two Spanish cross-sectional studies, VALCAR (Spanish Mediterranean coast) and Hortega (Spanish centre). These studies aimed at analysing cardiovascular risk and development of cardiovascular disease in the general population. Both populations correspond to regions with different characteristics.
SETTING
Five single nucleotide polymorphisms were selected using the SYSNPs web tool and analysed by oligonucleotide ligation assay (SNPlex). For the MIR136 functional study, cells were transfected with plasmids containing different rs7559479 polymorphism alleles and analysed by luciferase reporter assays.
PARTICIPANTS
1970 individuals (Caucasian, both genders): VALCAR (468) and Hortega (1502).
RESULTS
rs2293225, rs2272127 and rs7559479 showed the following associations: rs7559479 G allele correlated with a higher obesity risk (P=0.01; OR=1.82; 95% CI 1.15 to 2.87 for the VALCAR group; P=0.033; OR=1.35; 95% CI 1.03 to 1.79 for the Hortega population) and higher body mass index (BMI) values (P=0.0045; P=0.1 for VALCAR and Hortega, respectively); a significant association with obesity (P=0.0024, OR=1.44, 95% CI 1.14 to 1.82) and increased BMI values (P=0.008) was found when considering both populations together. rs2293225 T allele was associated with lower obesity risk (P=0.036; OR=0.60; 95% CI 0.35 to 0.96) and lower BMI values (P=0.0038; OR=1.41) while the rs2272127 G allele was associated with lower obesity risk (P=0.028; OR=0.66; 95% CI 0.44 to 0.97) only in the VALCAR population. A reporter assay showed that the presence of the A allele in rs7559479 was associated with increased MIR136 binding to .
CONCLUSIONS
Our results suggest that polymorphisms in influence susceptibility to obesity. We demonstrated that the A allele in rs7559479 increases MIR136 binding, which regulates IL-18 system activity.
目的
研究[具体内容]与体重指数（BMI）及肥胖之间的关联，并验证微小RNA136（MIR136）结合区域多态性的作用。
设计
我们分析了来自两项西班牙横断面研究的样本，即VALCAR（西班牙地中海沿岸）和奥尔特加（西班牙中部）研究。这些研究旨在分析普通人群中的心血管风险及心血管疾病的发展情况。这两个人群来自具有不同特征的地区。
设置
使用SYSNPs网络工具选择了五个单核苷酸多态性，并通过寡核苷酸连接测定法（SNPlex）进行分析。对于MIR136功能研究，用含有不同rs7559479多态性等位基因的质粒转染细胞，并通过荧光素酶报告基因测定法进行分析。
参与者
1970名个体（白种人，男女皆有）：VALCAR（468名）和奥尔特加（1502名）。
结果
rs2293225、rs2272127和rs7559479显示出以下关联：rs7559479的G等位基因与较高的肥胖风险相关（P = 0.01；OR = 1.82；VALCAR组的95%置信区间为1.15至2.87；奥尔特加人群的P = 0.033；OR = 1.35；95%置信区间为1.03至1.79）以及较高的体重指数（BMI）值（VALCAR和奥尔特加人群的P分别为0.0045和0.1）；当将两个人群一起考虑时，发现与肥胖存在显著关联（P = 0.0024，OR = 1.44，95%置信区间为1.14至1.82）且BMI值升高（P = 0.008）。rs2293225的T等位基因与较低的肥胖风险相关（P = 0.036；OR = 0.60；95%置信区间为0.35至0.96）以及较低的BMI值（P = 0.0038；OR = 1.41），而rs2272127的G等位基因仅在VALCAR人群中与较低的肥胖风险相关（P = 0.028；OR = 0.66；95%置信区间为0.44至0.97）。一项报告基因测定表明，rs7559479中A等位基因的存在与MIR136与[具体内容]的结合增加有关。
结论
我们的结果表明，[具体内容]中的多态性影响肥胖易感性。我们证明rs7559479中的A等位基因增加了MIR136的结合，从而调节IL - 18系统活性。
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