生长激素受体外显子 3 多态性与韩国肢端肥大症患者代谢因素的关系。
Association between the Growth Hormone Receptor Exon 3 Polymorphism and Metabolic Factors in Korean Patients with Acromegaly.
机构信息
Department of Internal Medicine, Kyungpook National University School of Medicine, Daegu, Korea.
Department of Biomedical Laboratory Science, Kyungwon University, Gumi, Korea.
出版信息
Endocrinol Metab (Seoul). 2015 Sep;30(3):312-7. doi: 10.3803/EnM.2015.30.3.312. Epub 2015 Jan 5.
BACKGROUND
This study investigated the association between the frequency of growth hormone receptor (GHR) exon 3 polymorphism (exon 3 deletion; d3-GHR) and metabolic factors in patients with acromegaly in Korea.
METHODS
DNA was extracted from the peripheral blood of 30 unrelated patients with acromegaly. GHR genotypes were evaluated by polymerase chain reaction and correlated with demographic data and laboratory parameters.
RESULTS
No patient had the d3/d3 genotype, while four (13.3%) had the d3/fl genotype, and 26 (86.7%) had the fl/fl genotype. Body mass index (BMI) in patients with the d3/fl genotype was significantly higher than in those with the fl/fl genotype (P=0.001). Age, gender, blood pressure, insulin-like growth factor-1, growth hormone, fasting plasma glucose, triglycerides, high density lipoprotein cholesterol, and low density lipoprotein cholesterol levels showed no significant differences between the two genotypes.
CONCLUSION
The d3-GHR polymorphism may be associated with high BMI but not with other demographic characteristics or laboratory parameters.
背景
本研究旨在探讨韩国肢端肥大症患者中生长激素受体（GHR）外显子 3 多态性（外显子 3 缺失；d3-GHR）与代谢因素之间的关系。
方法
从 30 名无血缘关系的肢端肥大症患者的外周血中提取 DNA。通过聚合酶链反应评估 GHR 基因型，并与人口统计学数据和实验室参数相关联。
结果
没有患者具有 d3/d3 基因型，4 名（13.3%）患者具有 d3/fl 基因型，26 名（86.7%）患者具有 fl/fl 基因型。d3/fl 基因型患者的体重指数（BMI）明显高于 fl/fl 基因型患者（P=0.001）。两种基因型之间的年龄、性别、血压、胰岛素样生长因子-1、生长激素、空腹血糖、甘油三酯、高密度脂蛋白胆固醇和低密度脂蛋白胆固醇水平无显著差异。
结论
d3-GHR 多态性可能与高 BMI 相关，但与其他人口统计学特征或实验室参数无关。
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