Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients with Morbid Obesity
Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients with Morbid Obesity
复制标题
DOI：
10.1007/s11695-019-04184-w
复制
发表时间：
2019-10-24
期刊：
影响因子：
2.9
通讯作者：
van Haelst, M. M.
中科院分区：
文献类型：
--
作者：
Cooiman, M. I.;Kleinendorst, L.;van Haelst, M. M.
背景瘦素-黑皮质素途径基因的突变已知可引起单基因肥胖。这些基因突变的患病率及其对减肥手术后体重减轻反应的影响在很大程度上仍然是未知的。目的了解肥胖人群中遗传性肥胖的患病率，评价肥胖手术的效果。方法对52个肥胖相关基因进行突变分析。患者入选标准为BMI > 50 kg/m2，有翻修手术指征或早发性肥胖（< 10岁）。结果共纳入1014例患者，其中30例（3%）被诊断为遗传性肥胖，由MC 4 R、POMC、PCSK 1、SIM 1或PTEN的致病性杂合突变引起。与缺乏分子诊断的患者相比，MC 4 R、POMC和PCSK 1突变的患者在Roux-en-Y胃旁路术（RYGB）后的总体重减轻百分比（%TBWL）无显著差异。在确诊的遗传性肥胖病例中，在2年的随访期间，只有接受袖状胃切除术（SG）的MC 4 R突变患者与缺乏分子诊断的患者相比显示出显著较低的%TBWL。结论：在这组病态肥胖的减肥患者中，据报道单基因肥胖的估计患病率为3%。在这些患者中，POMC和PCSK 1杂合突变的临床效应在随访的前2年内不会干扰最常用的减肥手术的有效性。与SG相比，具有MC 4 R突变的患者在初次RYGB后实现了上级体重减轻。
Background Mutations in the leptin-melanocortin pathway genes are known to cause monogenic obesity. The prevalence of these gene mutations and their effect on weight loss response after bariatric surgery are still largely unknown. Objective To determine the prevalence of genetic obesity in a large bariatric cohort and evaluate their response to bariatric surgery. Methods Mutation analysis of 52 obesity-associated genes. Patient inclusion criteria were a BMI > 50 kg/m(2), an indication for revisional surgery or an early onset of obesity (< 10 years of age). Results A total of 1014 patients were included, of whom 30 (3%) were diagnosed with genetic obesity, caused by pathogenic heterozygous mutations in either MC4R, POMC, PCSK1, SIM1, or PTEN. The percentage total body weight loss (%TBWL) after Roux-en-Y gastric bypass (RYGB) surgery was not significantly different for patients with a mutation in MC4R, POMC, and PCSK1 compared with patients lacking a molecular diagnosis. Of the confirmed genetic obesity cases, only patients with MC4R mutations receiving a sleeve gastrectomy (SG) showed significantly lower %TBWL compared with patients lacking a molecular diagnosis, during 2 years of follow-up. Conclusions In this cohort of morbid obese bariatric patients, an estimated prevalence of monogenic obesity of 3% is reported. Among these patients, the clinical effects of heterozygous mutations in POMC and PCSK1 do not interfere with the effectiveness of most commonly performed bariatric procedures within the first 2 years of follow-up. Patients with MC4R mutations achieved superior weight loss after primary RYGB compared with SG.