PDF(Pubmed)
Abstract：
The increase in the prevalence of overweight, obesity and associated diseases is a serious problem. The aim of the study was to identify rare variants in obesity-associated genes in young adults with abdominal obesity in our population and to analyze information about these variants in other populations. Targeted high-throughput sequencing of obesity-associated genes was performed (203 young adults with an abdominal obesity phenotype). In our study, all of the 203 young adults with abdominal obesity had some rare variant in the genes associated with obesity. The widest range of rare and common variants was presented in ADIPOQ, FTO, GLP1R, GHRL, and INS genes. The use of targeted sequencing and clinical criteria makes it possible to identify carriers of rare clinically significant variants in a wide range of obesity-associated genes and to investigate their influence on phenotypic manifestations of abdominal obesity.
摘要：
超重患病率的增加，肥胖和相关疾病是一个严重的问题。该研究的目的是确定我们人群中患有腹部肥胖的年轻人中肥胖相关基因的罕见变异，并分析其他人群中有关这些变异的信息。对肥胖相关基因进行了靶向高通量测序（203名腹部肥胖表型的年轻人）。在我们的研究中,所有203名患有腹部肥胖的年轻人在与肥胖相关的基因中都有一些罕见的变异。ADIPOQ中提出了最广泛的罕见和常见变体，FTO,GLP1R,GHRL,和INS基因。靶向测序和临床标准的使用使得在广泛的肥胖相关基因中鉴定罕见的临床显著变异的携带者成为可能,并研究它们对腹部肥胖的表型表现的影响。
