Xu Peng, Gao Qi-le, Wang Yun-Jia, Guo Chao-Feng, Tang Ming-Xing, Liu Shao-Hua, Deng Ang, Wang Yu-Xiang, Li Yan-Bing, Zhang Hong-Qi
Department of Spine Surgery, Xiangya Spinal Surgery Center, Xiangya Hospital, Central South University, Changsha 410008, People's Republic of China.
Department of Spine Surgery, Xiangya Spinal Surgery Center, Xiangya Hospital, Central South University, Changsha 410008, People's Republic of China.
Infect Genet Evol. 2020 Aug;82:104292. doi: 10.1016/j.meegid.2020.104292. Epub 2020 Mar 31.
To investigate the relationship between melanocortin-3 receptor (MC3R) gene polymorphism and tuberculosis (TB) susceptibility in Han population in southern China.
A total of 341 patients with TB (173 with pulmonary TB and 168 with multifocal TB) and 359 healthy controls were enrolled. Genotyping was performed by PCR and DNA sequencing, and detection of protein was performed by western blot.
The distributions of genotype and allele frequencies of rs6127698 differed significantly between the pulmonary and multifocal TB groups, and between the multifocal TB and control groups. The GG genotype was significantly more common among multifocal TB patients than among pulmonary TB patients (P = .009) and those in the control group (P = .001) under the recessive model. GG+GT genotype was more common in multifocal TB than in pulmonary TB (P < .01) and control group (P < .01) under the dominant model. G allele was more common in multifocal TB than in pulmonary TB (P < .0167) and control group (P < .0167). Patients with multifocal TB had an increased expression of MC3R protein than healthy controls (P < .05).
In the southern Chinese Han population, the MC3R rs6127698 polymorphism, which accompanying an increased expression of MC3R protein,was associated with susceptibility to multifocal TB. Presence of the G allele increased the risk of developing multifocal TB.
探讨黑素皮质素-3受体（MC3R）基因多态性与中国南方汉族人群结核病（TB）易感性之间的关系。
共纳入341例结核病患者（173例肺结核患者和168例多灶性结核患者）和359名健康对照者。采用聚合酶链反应（PCR）和DNA测序进行基因分型，采用蛋白质印迹法检测蛋白质。
rs6127698的基因型和等位基因频率分布在肺结核组与多灶性结核组之间，以及多灶性结核组与对照组之间存在显著差异。在隐性模型下，GG基因型在多灶性结核患者中比在肺结核患者中（P = 0.009）和对照组中（P = 0.001）明显更常见。在显性模型下，GG + GT基因型在多灶性结核中比在肺结核中（P < 0.01）和对照组中（P < 0.01）更常见。G等位基因在多灶性结核中比在肺结核中（P < 0.0167）和对照组中（P < 0.0167）更常见。多灶性结核患者的MC3R蛋白表达高于健康对照者（P < 0.05）。
在中国南方汉族人群中，MC3R rs6127698多态性与多灶性结核易感性相关，且伴随MC3R蛋白表达增加。G等位基因的存在增加了发生多灶性结核的风险。
