Correlation of growth hormone deficiency and COL11A2 gene single nucleotide polymorphisms

LI Xin; SHAO Qian; ZHANG Yan-hong; BAN Bo; ZHANG Mei; LI Ping; SUN Hai-ling

doi:10.11852/zgetbjzz2017-25-04-08

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Chinese Journal of Child Health Care ›› 2017, Vol. 25 ›› Issue (4) : 350-353. DOI: 10.11852/zgetbjzz2017-25-04-08

Correlation of growth hormone deficiency and COL11A2 gene single nucleotide polymorphisms

LI Xin¹,SHAO Qian²,ZHANG Yan-hong²,BAN Bo²,ZHANG Mei²,LI Ping²,SUN Hai-ling²

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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

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LI Xin,SHAO Qian,ZHANG Yan-hong,BAN Bo,ZHANG Mei,LI Ping,SUN Hai-ling. Correlation of growth hormone deficiency and COL11A2 gene single nucleotide polymorphisms[J]. Chinese Journal of Child Health Care. 2017, 25(4): 350-353 https://doi.org/10.11852/zgetbjzz2017-25-04-08

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