Marcovecchio M Loredana, Capanna Rita, D'Adamo Ebe, Mammarella Sandra, De Lellis Laura, Chiarelli Francesco, Cama Alessandro, Mohn Angelika
Department of Paediatrics, University of Chieti, Chieti, Italy.
Horm Res Paediatr. 2014;82(3):187-93. doi: 10.1159/000365103. Epub 2014 Aug 12.
To assess whether previously identified obesity-susceptibility loci were associated with overweight/obesity risk in a homogeneous population of Caucasian schoolchildren and whether these associations varied with age.
Seven hundred and forty-five schoolchildren (353 boys, mean age: 8.3 ± 1.4 years) underwent anthropometric assessments. A saliva sample was collected for DNA extraction and assessment of 19 single-nucleotide polymorphisms previously associated with obesity.
Only the rs12970134 in the MC4R gene was significantly associated with overweight/obesity risk, with a higher frequency of the AA risk genotype in children with a BMI >85th (8.3%) than in those with a BMI <85th percentile (3.0%), p = 0.001; odds ratio (95% CI) of 1.544 (1.192-1.998), p = 0.001, after adjusting for age, sex and pubertal stage. BMI standard deviation scores (SDS) and waist-to-height ratio (W/Hr) progressively increased across the rs12970134 genotypes (GG vs. AG vs. AA): BMI SDS, p = 0.004; W/Hr, p = 0.009. When dividing the study population into two groups based on the median age of participants (8.3 years), the differences in BMI SDS and W/Hr across the MC4R genotypes persisted only in children older than 8.3 years.
In a population of Caucasian schoolchildren, the rs12970134 MC4R variant was significantly associated with excess body weight, particularly in children older than 8 years of age.
评估先前确定的肥胖易感基因座是否与白种人学龄儿童同质人群中的超重/肥胖风险相关,以及这些关联是否随年龄而变化。
745名学龄儿童(353名男孩,平均年龄:8.3±1.4岁)接受了人体测量评估。收集唾液样本用于DNA提取,并评估先前与肥胖相关的19个单核苷酸多态性。
只有MC4R基因中的rs12970134与超重/肥胖风险显著相关,BMI>第85百分位的儿童中AA风险基因型的频率(8.3%)高于BMI<第85百分位的儿童(3.0%),p = 0.001;在调整年龄、性别和青春期阶段后,优势比(95%CI)为1.544(1.192 - 1.998),p = 0.001。BMI标准差评分(SDS)和腰高比(W/Hr)在rs12970134基因型(GG与AG与AA)之间逐渐增加:BMI SDS,p = 0.004;W/Hr,p = 0.009。当根据参与者的年龄中位数(8.3岁)将研究人群分为两组时,MC4R基因型之间BMI SDS和W/Hr的差异仅在8.3岁以上的儿童中持续存在。
在白种人学龄儿童人群中,rs12970134 MC4R变异与体重超标显著相关,尤其是在8岁以上的儿童中。