Abstract: Objective To study single nucleotide polymorphisms of COL11A2 gene in the growth plate and identify the correlation with the growth hormone deficiency (GHD). Methods Using the MALDI-TOF MS methods,the COL11A2 gene single nucleotide polymorphism loci (SNP) genotyping were detected in 229 cases of GHD children and 314 children with normal control group.And then the differences between the two groups with the SNP loci genotype frequency and allele frequency and genotype distribution of explicit and implicit model frequency were analyzed. Results The COL11A2 gene loci rs9368758 was associated with the occurrence of GHD (P=0.012).The allele of G in rs9368758 gene loci was a risk factor for GHD,the risk of GHD which would increase 1.71 times (P=0.02,OR=1.71.95%CI=1.11~2.65).The allele of A was a protection factors for GHD,which would reduce the risk of GHD in 0.63 times (P=0.02,OR=0.63,95%CI=0.43~0.92). Conclutions There is a correlation between COL11A2 gene loci rs9368758 and GHD.The allele of G in rs9368758 gene loci are GHD susceptible factors of the disease.A allele is GHD protective factors of the disease,which carriers are not easy to suffer from GHD.

Key words: growth hormone deficiency, single nucleotide polymorphisms, COL11A2gene

摘要： 目的 基于生长板功能在生长激素缺乏症(GHD)中的重要作用,本研究分析GHD患儿以及正常人群中XI型胶原α2(COL11A2)基因的多态性,以明确其与GHD的相关性。方法 采用基质辅助激光解吸电离飞行时间质谱(MALDI-TOF MS)方法对229例GHD患儿和314例正常对照组儿童COL11A2基因单核苷酸多态性位点(SNP)进行基因检测,分析SNP位点的基因型频率、等位基因频率以及显性和隐性模式下的基因型分布频率在两组间的差异。结果 COL11A2基因位点rs9368758与GHD的发生具有相关性,差异具有统计学意义(P=0.012)。rs9368758基因位点A显性模式下A等位基因是GHD的保护因素,发生GHD的风险降低0.63倍(P=0.02,OR值=0.63,95%CI=0.43~0.92)。A隐性模式下G等位基因是GHD发病的危险因素,发生GHD的风险增加1.71倍(P=0.02,OR值=1.71,95%CI=1.11~2.65)。结论 COL11A2基因位点rs9368758与GHD存在相关性。rs9368758位点G等位基因是GHD发病的易感因素,携带者发生GHD的风险增加。A等位基因是GHD发病的保护性因素,携带者则不易患GHD。

关键词: 生长激素缺乏症, 单核苷酸多态性, XI型胶原α2基因