Marcovecchio M Loredana, Florio Rosalba, Verginelli Fabio, De Lellis Laura, Capelli Cristian, Verzilli Delfina, Chiarelli Francesco, Mohn Angelika, Cama Alessandro
Department of Paediatrics, University of Chieti, Chieti, Italy.
Clinical Research Centre, Centre of Excellence on Aging, University of Chieti, Chieti, Italy.
PLoS One. 2016 May 5;11(5):e0154961. doi: 10.1371/journal.pone.0154961. eCollection 2016.
Genome-wide association studies have identified more than 60 single nucleotide polymorphisms associated with Body Mass Index (BMI). Additional genetic variants, such as copy number variations (CNV), have also been investigated in relation to BMI. Recently, the highly polymorphic CNV in the salivary amylase (AMY1) gene, encoding an enzyme implicated in the first step of starch digestion, has been associated with obesity in adults and children. We assessed the potential association between AMY1 copy number and a wide range of BMI in a population of Italian school-children.
744 children (354 boys, 390 girls, mean age (±SD): 8.4±1.4years) underwent anthropometric assessments (height, weight) and collection of saliva samples for DNA extraction. AMY1 copies were evaluated by quantitative PCR.
A significant increase of BMI z-score by decreasing AMY1 copy number was observed in boys (β: -0.117, p = 0.033), but not in girls. Similarly, waist circumference (β: -0.155, p = 0.003, adjusted for age) was negatively influenced by AMY1 copy number in boys. Boys with 8 or more AMY1 copy numbers presented a significant lower BMI z-score (p = 0.04) and waist circumference (p = 0.01) when compared to boys with less than 8 copy numbers.
In this pediatric-only, population-based study, a lower AMY1 copy number emerged to be associated with increased BMI in boys. These data confirm previous findings from adult studies and support a potential role of a higher copy number of the salivary AMY1 gene in protecting from excess weight gain.
全基因组关联研究已鉴定出60多个与体重指数（BMI）相关的单核苷酸多态性。其他遗传变异，如拷贝数变异（CNV），也已针对BMI进行了研究。最近，唾液淀粉酶（AMY1）基因中的高度多态性CNV，该基因编码一种参与淀粉消化第一步的酶，已被发现与成人和儿童的肥胖有关。我们评估了意大利学龄儿童群体中AMY1拷贝数与广泛的BMI之间的潜在关联。
744名儿童（354名男孩，390名女孩，平均年龄（±标准差）：8.4±1.4岁）接受了人体测量评估（身高、体重）并采集唾液样本用于DNA提取。通过定量PCR评估AMY1拷贝数。
在男孩中观察到随着AMY1拷贝数减少，BMI z评分显著增加（β：-0.117，p = 0.033），但在女孩中未观察到。同样，男孩的腰围（β：-0.155，p = 0.003，经年龄调整）受到AMY1拷贝数的负面影响。与AMY1拷贝数少于8个的男孩相比，AMY1拷贝数为8个或更多的男孩BMI z评分（p = 0.04）和腰围（p = 0.01）显著更低。
在这项仅针对儿童的基于人群的研究中，较低的AMY1拷贝数与男孩BMI增加有关。这些数据证实了成人研究的先前发现，并支持唾液AMY1基因较高拷贝数在防止体重过度增加方面的潜在作用。
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