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Genome-wide association study of human body fatness in the population of the island of Vis

Abstract

Pretilost je jedan od osnovnih faktora rizika za kardiovaskularna oboljenja, dijabetes, i zloćudne tumore. Iako su u pozadini porasta prevalencije pretilosti okolišni čimbenici, postoje značajne interindividualne varijacije u odgovoru na moderan stil života koje su dijelom posljedica razlika u genetičkoj predispoziciji pojedinca. Kako bi se istražili genetički i okolišni čimbenici koji utječu na pojavu pretilosti, provedena je cjelogenomska asocijacijska analiza udjela masti u tijelu, indeksa tjelesne mase i opsega struka u populaciji otočnog izolata Visa. Polimorfizam rs4954723 lociran blizu gena NXPH2 statistički je značajno povezan s indeksom tjelesne mase i opsegom struka. Niti jedan polimorfizam statistički ili nominalno značajan u ovom istraživanju nije potvrđen u replikacijskoj studiji. Među okolišnim čimbenicima kao značajni za udio masti u tijelu pokazali su se spol, način prehrane i pušački status, za indeks tjelesne mase način prehrane i pušački status, a za opseg struka spol, način prehrane, pušenje, tjelesna aktivnost i socioekomomski status.Obesity is one of the main risk factors for cardiovascular diseases, diabetes and cancer. Although the rise in the prevalence of obesity was mainly driven by the environmental factors, there are significant interindividual differences in the response to modern lifestyle, partly due to different genetic predisposition. In order to investigate genetic and environmental factors contributing to the incidence of obesity, genome-wide association analysis of body fatness, body mass index and waist circumference was conducted in the isolated population of Vis. Polymorphism rs4954723 located near NXPH2 gene was statistically significantly associated with body mass index and waist circumference. None of the statistically or nominally associated polymorphisms were confirmed in the replication study. Environmental factors which were significant predictors of body fatness were sex, diet and smoking status, for body mass index only diet and smoking status, while for waist circumference diet, smoking status, physical activity and socioeconomic status were significant

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