Department of Pediatrics, Division of Endocrinology, University of California San Francisco, San Francisco, CA 94143, USA.
Obes Surg. 2011 Jul;21(7):930-4. doi: 10.1007/s11695-010-0295-8.
Heterozygous mutations in melanocortin-4 receptor (MC4R) are the most frequent genetic cause of obesity. Bariatric surgery is a successful treatment for severe obesity. The mechanisms of weight loss after bariatric surgery are not well understood.
Ninety-two patients who had Roux-en-Y gastric bypass (RYGB) surgery were screened for MC4R mutations. We compared percent excess weight loss (%EWL) in the four MC4R mutation carriers with that of two control groups: 8 matched controls and with the remaining 80 patients who underwent RYGB.
Four patients were heterozygous for functionally significant MC4R mutations. In patients with MC4R mutations, the %EWL after RYGB (66% EWL) was not significantly different compared to matched controls (70% EWL) and non-matched controls (60% EWL) after 1 year of follow-up.
This study suggests that patients with heterozygous MC4R mutations also benefit from RYGB and that weight loss may be independent of the presence of such mutations.
黑皮质素 4 受体 (MC4R) 的杂合突变是肥胖症最常见的遗传原因。减重手术是治疗重度肥胖症的有效方法。但减重手术后体重减轻的机制尚不清楚。
对 92 例行 Roux-en-Y 胃旁路术 (RYGB) 的患者进行 MC4R 突变筛查。我们比较了 4 名 MC4R 突变携带者的体重减轻百分比（%EWL）与 2 个对照组的差异：8 名匹配对照组和其余 80 名接受 RYGB 的患者。
4 名患者携带功能性显著的 MC4R 突变。在 MC4R 突变患者中，RYGB 术后 1 年的 %EWL（66%EWL）与匹配对照组（70%EWL）和非匹配对照组（60%EWL）相比无显著差异。
本研究表明，携带杂合 MC4R 突变的患者也从 RYGB 中获益，并且体重减轻可能与这些突变的存在无关。
