دانلود کتاب ژنتیک‌های چاقی بالینی

Genetic studies of obesity have a long history that range from early twin studies to recent gene identification studies that successfully found genetic variants influencing body weight [1] (Fig. 1). Predisposition to develop obesity is often a combination of environmental, behavioural and heritable factors. Twin studies have shown heritability estimates (i.e. variation explained by genetic differences) of 47–90% for BMI [1, 2], suggesting that genetic variation is a major contributor to its aetiology. Advances in DNA technologies, such as genotyping arrays and next-generation sequencing (NGS), have allowed researchers to identify genetic variants that predispose to obesity and molecular mechanisms through which these variants affect body weight regulation. It is now known that genetic predisposition for obesity covers a spectrum that can be subdivided in common genetic variation (e.g. genetic variants with a frequency of >1% in the population) with typical small individual effects on obesity, and rare variants with strong effects on obesity that follow a Mendelian inheritance pattern. These rare monogenic variants play an important role in current genetic diagnostics in the clinic, which can help in individual risk assessment, counselling of family members, improve acceptance by the patient and his or her environment and facilitate personalized treatment options. Research on both ends on this variant frequency spectrum hold promises to better understand the biological factors underlying obesity pathophysiology. With the development of larger genetic datasets and more accurate genetic technologies, it is expected that we will identify even more variants that contribute to obesity, elucidate how genetics and the environment shape obesity, and develop more effective interventions tailored to an individual’s genetic profile.