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

The association of GDF5 gene single nucleotide polymorphisms with adult height of Han population in Guizhou province

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%(P<0.05);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(P<0.01)、2.3 cm(P<0.05)和1.6 cm(P<0.05)、2.1 cm(P<0.01);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(P<0.05)和2.2 cm(P<0.01)。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。

Objective To analyze the correlation between single nucleotide polymorphisms of growth differentiation factor 5 （GDF5） gene and adult height of Han population in Guizhou province.Methods Totally 1 069 healthy Hans,native residents of Guizhou province,were recruited into our present study.Physical examination and questionnaire survey were carried out,anticoagulant blood samples were collected,and the genomic DNA was extracted.The single nucleotide polymorphisms of GDF5 gene were detected by matrix assisted laser desorption ionization time of flight mass spectrometry （MALDI-TOF MS）.Results The genotypes of GDF5 at rs143383,rs143384,rs224331and rs6060369 sites were associated with female height,each explained 1.4％ 、0.9％ 、1.1％ and 1.0％of total variance in height （P ＜ 0.05）.At rs143383 and rs143384 sites,women with the GG genotype were 1.7 cm （P ＜0.01）,2.3 cm （P ＜0.05） and 1.6 cm （P ＜0.05）,2.1 cm （P ＜0.01） taller than those with AG and AA genotypes.At rs6060369 site,women with the CC genotype were 1.7 cm （P ＜0.05） and 2.2 cm（P ＜0.01） taller than those with CT and TT genotypes.However,the association of GDF5 gene single nucleotide polymorphisms with height was not found in males.Conclusions The single nucleotide polymorphisms of GDF5 gene might be associated with female height of Han population in Guizhou province.It may be one of the genes which affect adult women＇s height in Chinese Han population.