中国北方汉族人群甘露糖结合凝集素与HIV易感性的研究

目的 研究中国北方汉族人群甘露糖结合凝集素(MBL)启动子多态性及血浆MBL浓度对HIV易感性的影响.方法 采用病例对照研究,病例组为115例北京佑安医院确诊为HIV感染的患者,对照组为115例非HIV感染的健康人,用焦磷酸测序法检测样本MBL基因启动子-550(H/L)和-221(Y/X)两个位点的单核苷酸多态性,用酶联免疫吸附法(ELISA)检测样本血浆MBL浓度.结果 基凶型LY/LY、LY/LX、HY/LY、HY/HY和LX/LX在病例组中分别检测到66 例(57.40%)、25例(21.70%)、17例(14.80%)、5例(4.30%)和2例(1.70%),在对照组中分别检测到77例(67.00%)、23例(20.00%)、12例(10.40%)、0例(0.00%)、和3例(2.60%);单倍型LY、HY、LX在HIV感染组中出现的频率分别为75.70%、11.70%和12.60%,在健康对照组中出现的频率分别为82.20%、5.20%和12.60%,病例组和对照组单倍型分布的差异有统计学意义(P=0.041).病例组血浆MBL浓度平均值为(1775.14±786.31)μg/L,对照组血浆MBL浓度平均值为(3672.21±597.13)μg/L,两组血浆MBL浓度的差异有显著的统计学意义(P=0.001).结论 中国北方汉族人群MBL基因启动子的单倍型以LY和HY为主,基因型以LY/LY和LY/LX为主,病例组血浆MBL浓度平均值只有对照组血浆MBL浓度的50%.故我们推测中国北方汉族人群MBL基因启动子的多态性及血浆MBL浓度的高低可能与HIV的易感性相关,血浆MBL浓度低的个体易于感染HIV.

Correlation of mannose-binding lectin gene promoter polymorphism and plasma MBL concentration with HIV susceptibility in northern Chinese Han population

OBJECTIVE: To study the correlations of mannose-binding lectin (MBL) gene promoter polymorphisms and plasma MBL concentrations to the susceptibility to HIV infection in northern Chinese Han population. METHODS: This case-control study included 115 HIV-infected patients and 115 non-infected healthy individuals, in whom the MBL gene promoter polymorphisms were detected using pyrosequencing technique and plasma MBL concentrations measured using enzyme-linked immunosorbent assay (ELISA). RESULTS: The MBL promoter genotypes of LY/LY, LY/LX, HY/LY, HY/HY and LX/LX were detected in 66 (57.40%), 25 (21.70%), 17 (14.80%), 5 (4.30%) and 2 (1.70%) among the HIV-infected patients, and in 77 (67.00%), 23(20.00%), 12 (10.40%), 0 (0.00%), and 3 (2.60%) among the healthy individuals, respectively. The frequencies of haplotypes LY, HY and LX were 75.70%, 11.70% and 12.60% among the patients, and 82.20%, 5.20% and 12.60% among the healthy individuals, respectively, showing significant difference in the halpotype between the two groups (P=0.041). The average plasma MBL concentration was significantly lower in HIV-infected group than in the healthy individuals (1775.14-/+786.31 vs 3672.21-/+597.13 microg/L, P=0.001). CONCLUSION: The genotypes of LY/LY and LY/LX and the haplotypes of LY and HY are predominant in northern Chinese Han population, and the plasma MBL concentration in HIV infected patients is generally only 50% of that in healthy individuals. We therefore presume that MBL promoter polymorphisms and plasma MBL concentration can be associated with the susceptibility to HIV infection in this population, and individuals with low plasma MBL concentration are more susceptible to HIV infection.