关键词: GDF5, 单核苷酸多态性(SNP), 身高, 汉族

Abstract: Objectives ：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 ：1069 healthy Hans, who were long-term residents of Guizhou Province, were recruited in 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), 2.3cm (P ＜0.05) and 1.6cm (P ＜0.05),2.1cm (P ＜0.01) taller than those with AG and AA genotypes. At rs6060369 site, women with the CC genotype were 1.7cm (P ＜0.05) and 2.2cm(P ＜0.01) taller than those with CT and TT genotypes. However，the association of GDF5 gene single nucleotide polymorphisms with height was not observed 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.

Key words: Growth differentiation factor 5, single nucleotide polymorphism, Height, Han population