CSCR中盐皮质激素受体基因-2G/C的多态性及其与血浆皮质醇水平的关系

Mineralocorticoid receptor gene-2G/C polymorphism in central serous chorioretinopathy and relation of polymorphism with plasma cortisol levels

摘要:

目的：评估中心性浆液性脉络膜视网膜(CSCR)病变中盐皮质激素受体基因-2G/C单核苷酸多态性，以及基因多态性和血浆皮质醇水平的关系。

方法：选取60例中心性浆液性脉络膜视网膜病变患者和50例正常人作为研究对象。患者皆患有急性中心性浆液性脉络膜视网膜病变，即浆液性视网膜脱离和视网膜色素上皮脱离或功能障碍(排除其它可能导致渗出的疾病，比如脉络膜新生血管、炎症或浸润病变)。为避免皮质醇水平的昼夜变化，上午8时到10时之间采集外周血样，检测盐皮质激素受体基因多态性(rs2070951)和血浆皮质醇水平。

结果：CSCR组的基因型频率分布为G/C(46.6% )， G/G(26.7%)和 C/C(26.7%)。两组间基因型分布无统计学差异(P=0.96)。研究结果显示，CSCR组的血浆皮质醇水平为401.2±162.1 nmol/L ，对照组为296.8±130.1 nmol/L，两组间差异有统计学意义(P<0.01)。血浆皮质醇水平在G/C(345.0±137.0 nmol/L)， G/G(369.2±165.3 nmol/L)和 C/C(395.3±188.8 nmol/L)基因型之间不存在差异(P=0.50)。

结论：盐皮质激素受体基因多态性与中心性浆液性脉络膜视网膜病变和血浆皮质醇水平无关。

Abstract:

AIM:To evaluate the mineralocorticoid receptor(MR)gene - 2G/C single nucleotide polymorphism in central serous chorioretinopathy(CSCR), polymorphism and plasma cortisol level relationship.

METHODS:Sixty CSCR patients and 50 controls were included in the study. Inclusion criteria for patients were acute manifestation of CSCR characterized by serous retinal detachment, RPE detachment or dysfunction without evidence of any other possible cause of fluid exudation, such as choroidal neovascularization, inflammation or infiltration. Peripheric blood sample was collected from the participants between 8 and 10 a.m. to avoid the diurnal changes of cortisol levels. MR (NR3C2)gene polymorphism(rs2070951)and plasma cortisol levels sere studied.

RESULTS: The genotype frequencies in CSCR group were G/C(46.6% ), G/G(26.7%)and C/C(26.7%).There was no statistically significant difference in terms of genotype distribution among groups(P=0.96). The plasma cortisol levels were also studied and the results were 401.2±162.1 nmol/L in the CSCR group and 296.8±130.1 nmol/L in the control group and the difference was statistically significant(P<0.01). The plasma cortisol levels also did not differ between G/C(345.0±137.0 nmol/L), G/G(369.2±165.3 nmol/L)and C/C(395.3±188.8 nmol/L)genotypes(P=0.50).

CONCLUSION: The MR (NR3C2)gene polymorphism is not associated with CSCR and the plasma cortisol levels.