FSHR基因多态性与绝经后骨质疏松症的关联性分析
Association analysis between FSHR gene polymorphism and postmenopausal osteoporosis
  
DOI:10.3969/j.issn.1006-7108.2020.11.002
中文关键词:  绝经后骨质疏松  卵泡刺激素受体  基因多态性
英文关键词:postmenopausal osteoporosis  follicle-stimulating hormone receptor  gene polymorphism
基金项目:国家自然科学基金项目(81760260)
作者单位
余丽金1* 许艳1 崔红旺2 温广宁2 1.海南现代妇女儿童医院海南 海口 570203 2.海南医学院第一附属医院海南 海口 570102 
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中文摘要:
      目的 探讨卵泡刺激素受体(FSHR)中外显子10多态性与绝经后骨质疏松症的相关性。方法 选取2017年8月至2019年3月因骨质疏松于本院骨科住院的136例绝经后女性患者为研究对象(骨质疏松组),同期选取118例绝经后非骨质疏松女性作为对照(对照组)。提取两组女性外周血基因组DNA,采用PCR法扩增FSHR基因外显子10的片段并进行基因测序,探究其基因多态性。结果 两组年龄、绝经期年龄、绝经期年限、糖尿病患病比例、高血压患病比例、糖化血红蛋白(HbA1c)、空腹胰岛素(FINS)比较,差异无统计学意义(P>0.05);骨质疏松组抗酒石酸酸性磷酸酶-5b(TRACP-5b)、血清骨碱性磷酸酶(BALP)水平显著高于对照组,体质量指数(BMI)、腰椎骨密度(BMD)、股骨颈BMD水平显著低于对照组,差异有统计学意义(P<0.05);FSHR在基因外显子10的680多态位点上有A/A型、A/S型、S/S型3种基因型,对照组基因型中A/A型(占62.71%)最多,其次为A/S型(占20.33%),S/S型(占16.96%)最少;骨质疏松组基因型中以S/S型(占59.56%)为主,其次为A/A型(占28.68%),A/S型(占11.76%)最少,两组基因型比较,差异均有统计学意义(P<0.05);S/S型基因型、BMI是影响骨质疏松发生的独立危险因素,腰椎L2-L4 BMD、股骨颈BMD是影响骨质疏松发生的保护因素(P<0.05)。结论 FSHR基因多态性与绝经后骨质疏松症有一定相关性,其中S/S型基因型在绝经后骨质疏松患者中出现频率较高,可能与绝经后骨质疏松发生发展有关。
英文摘要:
      Objective To investigate the correlation between exon 10 polymorphism of follicle stimulating hormone receptor (FSHR) and postmenopausal osteoporosis. Methods From August 2017 to March 2019, 136 postmenopausal women hospitalized in the orthopedic department of our hospital due to osteoporosis were selected as the study objects (osteoporosis group), and 118 postmenopausal non osteoporosis women were selected as the control group at the same time (control group). Genomic DNA was extracted from peripheral blood in females of two groups. The fragment of FSHR gene exon 10 was amplified with PCR and sequenced, and its gene polymorphism was explored. Results There was no significant difference between the two groups in age, menopause age, menopause years, diabetes prevalence, hypertension prevalence, glycosylated hemoglobin (HbA1c), and fasting insulin (fins, P>0.05). The levels of tartrate resistant acid phosphatase-5b (tracp-5b) and serum bone alkaline phosphatase (BALP) in osteoporosis group were significantly higher than those in the control group. Body mass index (BMI), lumbar bone mineral density (BMD), and BMD of the femoral neck were significantly lower than those in the control group, and the differences were statistically significant (P<0.05). There were three genotypes of FSHR in 680 polymorphism of exon 10: type A/A, A/S, and S/S. In the control group, A/A type (62.71%) was the most, followed by A/S type (20.33%), and S/S type (16.96%) was the least. In osteoporosis group, S/S type was the main genotype (59.56%), followed by A/A type (28.68%), and A/S type (11.76%) was the least. There was significant difference between the two groups (P<0.05). S/S genotype and BMI were independent risk factors for osteoporosis. BMD of the lumbar spine L2-4 and BMD of the femoral neck were protective factors for osteoporosis (P<0.05). Conclusion FSHR gene polymorphism has a certain correlation with postmenopausal osteoporosis. S/S genotype appears frequently in postmenopausal osteoporosis patients, which may be related to the occurrence and development of postmenopausal osteoporosis.
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