贵州地区汉族人群GDF5基因单核苷酸多态性与成人终身高的关系

发布时间：2018-05-14 03:34

本文选题：GDF + 单核苷酸多态性(SNP)　；参考：《基础医学与临床》2015年07期

【摘要】：目的探讨生长分化因子5(GDF5)基因rs143383、rs143384、rs6060369和rs224331位点单核苷酸多态性(SNPs)与贵州地区汉族人群成人终身高的相关性。方法对贵州地区1 069例汉族健康体检者进行体格检查及问卷调查,收集抗凝血标本并提取DNA。用基质辅助激光解吸电离飞行时间质谱(MALDI-TOF MS)方法检测GDF5基因的SNPs,并分析其与身高的相关性。结果成年女性中,GDF5基因rs143383、rs143384、rs6060369和rs224331基因型分布可分别解释身高变异的1.4%、0.9%、1.1%和1.0%(P0.05);在GDF5基因rs143383和rs143384位点,携带GG基因型的个体平均身高均为最高,分别比AG和AA基因型个体高1.7 cm(P0.01)、2.3 cm(P0.05)和1.6 cm(P0.05)、2.1 cm(P0.01);在GDF5基因rs6060369位点,携带CC基因型的个体平均身高分别比CT和TT基因型个体高1.7 cm(P0.05)和2.2 cm(P0.01)。但是在成年男性中未发现GDF5基因上述SNPs位点与身高的相关性。结论 GDF5基因单核苷酸多态性与贵州地区成年汉族女性身高有关,GDF5基因可能是影响中国汉族成人女性身高个体差异的基因。
[Abstract]:Objective to investigate the association between the single nucleotide polymorphisms of rs143383rs143384rs60369 and rs224331 and the lifetime height of adults in Guizhou Han population. Methods 1 069 healthy people of Han nationality in Guizhou area were examined by physical examination and questionnaire survey. The anticoagulant blood samples were collected and DNAs were extracted. Matrix assisted laser desorption ionization time of flight mass spectrometry (MALDI-TOF MS) was used to detect GDF5 gene and its correlation with height was analyzed. Results the distribution of rs143383 / rs143384 rs6060369 and rs224331 genotypes in adult women could explain the height variation of 1.4x0.910% and 1.0GDF5 P0.05A respectively, and the average height of individuals with GG genotype was the highest at the rs143383 and rs143384 loci of GDF5 gene. The average height of the individuals with CC genotype was 1.7 cm P0.05) and 2.2 cm P0.01 at the rs6060369 locus of the GDF5 gene, respectively, which was higher than that of the individuals with CT and TT genotypes, and the average height of the individuals with CC genotype was 1.7 cm, P 0.05) and 2.2 cm P 0.01, respectively, compared with those of the individuals with AG and AA genotypes, and the average height of the individuals with CC genotype was 1.7 cm P0.05) and 2.2 cmP0.01in the rs6060369 locus of the GDF5 gene, respectively. However, there was no correlation between the SNPs locus and height of GDF5 gene in adult males. Conclusion the single nucleotide polymorphism of GDF5 gene is related to the height of adult Han women in Guizhou area.
【作者单位】：山东大学医学院;中国医学科学院北京协和医学院北京协和医院内分泌科卫生部内分泌重点实验室协和转化医学中心;济宁医学院附属医院;中国医学科学院基础医学研究所;北京协和医学院基础学院流行病学与统计学系;
【基金】：国家十二五科技支撑计划(2012BAI37B02) 北京自然科学基金(7122146) 国家临床重点专科项目(WBYZ2011-873)
【分类号】：R394

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