Association Between Growth Hormone Deficiency And Col11A2 Gene Single Nucleotide Polymorphisms
Keywords
Growth Hormone Deficiency, Single Nucleotide Polymorphism, Type Xi Collagen Alpha 2 Gene
Abstract
Abstract Objective Based on the important role of growth plate function in growth hormone deficiency (GHD), this study analyzed the polymorphisms of type XI collagen ¦Á2 (COL11A2) gene in children with GHD and normal people to clarify its correlation with GHD. . Methods The matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) method was used to conduct genetic detection of COL11A2 gene single nucleotide polymorphisms (SNP) in 229 children with GHD and 314 normal control children. The SNPs were analyzed. Differences in genotype frequency, allele frequency, and genotype distribution frequency in dominant and recessive modes between the two groups. Results The COL11A2 gene locus rs9368758 was correlated with the occurrence of GHD, and the difference was statistically significant (P=0.012). In the dominant mode of rs9368758 gene locus A, the A allele is a protective factor for GHD, and the risk of GHD is reduced by 0.63 times (P=0.02, OR value=0.63, 95%CI=0.43~0.92). In A recessive mode, the G allele is a risk factor for the occurrence of GHD, and the risk of GHD is increased by 1.71 times (P=0.02, OR value=1.71, 95%CI=1.11~2.65). Conclusion There is a correlation between COL11A2 gene locus rs9368758 and GHD. The G allele of rs9368758 locus is a susceptibility factor for GHD, and carriers have an increased risk of GHD. The A allele is a protective factor for the onset of GHD, and carriers are less susceptible to GHD
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Original research was done by Sun Hailing, Zhang Mei, Zhang Yanhong, Li Ping, Li Xin, Ban Bo, Shao Qian
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