摘要
采用基于混合线性模型的关联分析方法,检测了身体质量指数(BMI)的相关基因及其相互作用,分析了吸烟和性别对身体质量指数的影响.研究的基因型和表型数据取自慢性阻塞性肺病研究数据库.结果检测到与身体质量指数有关的20个基因以及2对上位性基因,并发现了受吸烟影响及与性别有关的特定基因及其作用方式.检测到与吸烟无关的9个基因,对BMI有较大影响(遗传率为31.23%),并且影响肥胖、糖尿病等7种疾病.吸烟导致的5个基因都能增加BMI,但并不导致肥胖、糖尿病等疾病.生物信息学分析揭示了与身体质量指数相关的基因存在复杂的遗传网络.研究结果表明,吸烟等生活行为的个性化检测对肥胖等复杂疾病的预防及治疗至关重要.
Obesity has been reported as an increasingly prevalent and highly heritable health problem , resulting in increased risk for several common diseases . Despite the consensus view , that epistasis and gene-environment interactions have a prominent role in its pathogenesis , they are largely ignored in the current genome-wide association study （ GWAS ） . A new approach based on a linear mixed model was conducted for GWAS to detect plausible genes and potential interactions among genes , impacts of smoking and gender on body mass index （BMI） . We conducted analysis based on database of genotype and phenotype （ dbGaP） from chronic obstructive pulmonary disease （ COPD） study , and identified 20 genes and two pairs of epistasis associated with BMI , some of which were smoking-influencing and gender-specific . Bioinformatics analysis revealed a complex gene network among the identified genes connected with BMI and other related diseases . These findings highlight that personalized measures including lifestyle modifications such as smoking is essential for prevention and treatment of obesity .
出处
《浙江大学学报（农业与生命科学版）》
CAS
CSCD
北大核心
2014年第4期421-430,共10页
Journal of Zhejiang University:Agriculture and Life Sciences
基金
Project supported by the National Science Foundation of China(No.31371250)
关键词
慢性阻塞性肺病
全基因组关联分析
混合线性模型
条件分析
数量性状单岳苷酸多态性
身体质量指教
chronic obstructive pulmonary disease （COPD）
genome-wide association study （GWAS）
linearmixed model
conditional analysis
quantitative trait single nucleotide polymorphism （QTS）
bodymass index （BMI）
