Melkersson-Rosenthal syndrome (MRS) is a neuromucocutaneous disease that manifests by the triad of recurrent orofacial edema (frequently as cheilitis granulomatosa), relapsing facial paralysis and plicated tongue. The cause of MRS remains unknown, but genetic predisposal and a relationship with inflammatory bowel disease are suspected. The objective of this research was to compare the frequency of class I and II HLA alleles in patients with a confirmed diagnosis of MRS with those of a healthy control group. We conduct a case-control study and typed of HLA A, B, C, DR, and DQ using molecular techniques.

The study included 36 patients with MRS and 297 patients in the control group. There was an increase in the expression of HLA A*02 (p = 0.0269; OR: 1,79 [1,045–2,973]), HLA DRB1*11 (p < 0,0001; OR: 4,009 [2,214–7,277]), HLA DRB1*13 (not statistically significant) and HLA DQB1*03 (p = 0,0177; OR: 1,829 [1,122–2,978]) and low levels of HLA A*01 (p = 0.0046; OR: 0,097 [0,009–0,538]), HLA DRB1*04 (p = 0.0274; OR: 0,228 [0,053–0,844]), HLA DRB1*07 (p = 0,0091; OR: 0,183 [0,043–0,670]) and HLA DQB1*02 (p = 0.0051; OR: 0,312 [0,143–0,721]) in MRS patients compared with the control group. Crohn disease (CD) patients had disparate genetic profiles versus those with MRS. This single-institution study had a small cohort, because this disease is rare. Conclusions: There is a genetic predisposition toward MRS, involving associated and protective genes.

Melkersson-Rosenthal综合征（MRS）是一种神经黏膜皮肤疾病，表现为复发性口面水肿（通常为唇炎性肉芽肿）三联征，复发性面神经麻痹和舌重复。MRS的病因尚不清楚，但怀疑有遗传易感性以及与炎症性肠病的关系。这项研究的目的是比较确诊为MRS的患者与健康对照组的I和II类HLA等位基因的频率。我们进行了一项病例对照研究，并使用分子技术对HLA A，B，C，DR和DQ进行了分类。

该研究包括36例MRS患者和297例对照组。HLA A * 02（p = 0.0269; OR：1,79 [1,045–2,973]），HLA DRB1 * 11（p <0,0001; OR：4,009 [2,214–7,277]）的表达增加， HLA DRB1 * 13（无统计学意义）和HLA DQB1 * 03（p = 0,0177； OR：1,829 [1,122-2,978]）和低水平的HLA A * 01（p = 0.0046； OR：0.097 [0,009-0,538] ]），HLA DRB1 * 04（p = 0.0274; OR：0,228 [0,053–0,844]），HLA DRB1 * 07（p = 0,0091; OR：0,183 [0,043–0,670]）和HLA DQB1 * 02（p = 0.0051；或：与对照组相比，MRS患者为0.312 [0,143-0,721]。克罗恩病（CD）患者与MRS患者具有不同的遗传特征。这项单一机构的研究队列很小，因为这种疾病很少见。结论：MRS有遗传倾向，涉及相关和保护基因。