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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。
OBJECTIVE: Based on the important role of growth plate function in growth hormone deficiency (GHD), we analyzed the polymorphism of COL11A2 gene in children with GHD and normal controls to determine the association with GHD. Methods Single nucleotide polymorphisms (SNPs) of COL11A2 gene in 229 children with GHD and 314 normal controls were detected by matrix-assisted laser desorption / ionization time of flight mass spectrometry (MALDI-TOF MS) The differences in genotype frequency, allele frequency, and genotype distribution frequency in both dominant and recessive loci were compared between the two groups. Results There was a significant correlation between COL11A2 gene rs9368758 and GHD (P = 0.012). The A allele of rs9368758 A dominant mode is a protective factor for GHD, with a 0.63-fold reduction in the risk of developing GHD (P = 0.02, OR = 0.63, 95% CI = 0.43-0.92). A recessive mode G allele is a risk factor for the development of GHD, the risk of GHD increased 1.71 times (P = 0.02, OR = 1.71,95% CI = 1.11 ~ 2.65). Conclusion There is a correlation between COL11A2 gene rs9368758 and GHD. The G allele of rs9368758 locus is a predisposing factor for the pathogenesis of GHD. The risk of GHD in carriers is increased. A allele is a protective factor in the pathogenesis of GHD, carriers are less susceptible to GHD.