In a recent study published in Med , researchers performed a case-control study to compare metabolic changes between individuals homozygous for a loss-of-function (LoF) genetic variation in small integral membrane protein 1 (SMIM1) and the general population. Obesity is an increasingly prevalent condition that causes enormous economic hardship owing to the accompanying non-communicable illnesses. The underlying reason is an imbalance in energy expenditure due to a combination of lifestyle habits, environmental factors, and hereditary variables.
Despite the polygenic architecture of obesity, singular genetic variations with significant effect sizes are responsible for only a small proportion of cases. The polymorphisms facilitated the identification of new genes and biological mechanisms related to weight control, ultimately leading to the creation of innovative, tailored therapies. In the present study, researchers evaluated the impact of SMIM1 absence on human health using phenotypic population biobanks to explore genetic susceptibility to overweight or obesity.
The study comprised 248 SMIM1-/- unrelated Europeans (105 females and 143 men) from four distinct cohorts. The study's cohorts included the United Kingdom Biobank (UKB) cohort, the National Institute for Health and Care Research (NIHR)-NBR cohort, the Danish Blood Donor Study (DBDS) and Copenhagen Hospital Biobank (CHB) cohorts, and the Million Veteran Program (MVP) cohort. The genotype at rs566629828 was validated b.