皮质醇结合球蛋白的生理功能及其编码基因突变

皮质醇结合球蛋白（CBG）对皮质醇具有高亲和力,在调节血液中的皮质醇水平,转运孕酮,参与炎症反应等过程发挥作用。目前已发现的影响CBG的基因突变或单核苷酸多态性有9种,往往影响CBG水平或是CBG与皮质醇的结合能力,CBG缺陷先证者多表现为慢性疲乏,往往伴随着低血压、高血压或者是肥胖,但并不是所有CBG缺陷患者均有上述症状,由于病例报道数量较少,突变与症状的相关性很难确定,仍需更多针对CBG的遗传学研究。

Physiological function and heritable variants of corticosteroid-binding globulin

Corticosteroid-binding globulin（ CBG） is the specific high-affinity plasma glycoprotein for cortisol. It plays an important role in regulating the cortisol levels in the blood and transfer of progesterone,and is involved in inflammation and other process. Currently,9 mutations or single nucleotide polymorphisms（ SNPs） influencing CBG have been found. Usually,the effect of CBG mutations or SNPs relies on reduced CBG levels or reduced cortisol binding affinity. Most patients with CBG deficiency are characterized by chronic fatigue,often accompanied by low blood pressure,high blood pressure or obesity,but not all patients have the symptoms. As the number of reported cases is rare,the correlation between mutations and symptoms is difficult to identify. More researches on the genetics of CBG are necessary.