Affiliation:
1. Department of Endocrinology and Metabolism The First Affiliated Hospital of Nanjing Medical University Nanjing 210029 China
2. Department of General Surgery The First Affiliated Hospital of Nanjing Medical University Nanjing 210029 China
3. The Key Laboratory of Rare Metabolic Diseases The Key Laboratory of Human Functional Genomics of Jiangsu Province Department of Biochemistry and Molecular Biology Key Laboratory of Targeted Intervention of Cardiovascular Disease Collaborative Innovation Center for Cardiovascular Disease Translational Medicine Nanjing Medical University Nanjing 211166 China
4. Shanghai Qi Zhi Institute Shanghai 200232 China
Abstract
AbstractMutations in MC4R are the most common genetic cause of obesity. In the reported Chinese morbid obesity cohort, 10 out of 59 harbor six MC4R variants, including Y35C, T53I, V103I, R165W, G233S, and C277X, among which V103I has a relatively high frequency, while other five variants are rare in the population. The prevalence of MC4R carriers in Chinese morbid obese patients (body mass index ≥ 45 kg m−2) is detected as 16.9% in this study. R165W and C277X are loss‐of‐function variants. The patient with R165W achieves excess weight loss (%EWL) as high as 20.6% and 50.3% at 1 and 8 months after surgery, respectively. G233S is reported for the first time in Asia obese population. The patient harboring G233S has a %EWL as 23.3% one month postsurgery. It is concluded that morbid obese patients with rare MC4R variants can benefit from metabolic surgery. More importantly, the choice of surgery procedure and MC4R variant should be taken into consideration for personalized treatment. In the future, a larger size cohort, accompanied with regular and longer follow‐up, would be helpful.
Funder
National Key Research and Development Program of China
National Natural Science Foundation of China