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首页> 外文期刊>The EPMA journal. >Genetic polymorphisms of collagen type I α1 chain (COL1A1) gene increase the frequency of low bone mineral density in the subgroup of children with juvenile idiopathic arthritis
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Genetic polymorphisms of collagen type I α1 chain (COL1A1) gene increase the frequency of low bone mineral density in the subgroup of children with juvenile idiopathic arthritis

机译：I型胶原α1链（COL1A1）基因的遗传多态性会增加儿童特发性关节炎儿童亚组低骨矿物质密度的频率

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Background Collagen type I is one of the key proteins involved in the maturation, development and mineralization of bone. Genetic polymorphisms of collagen type I alpha-1 chain ( COL1A1 ) gene are associated with low bone mineral density and higher risk of fractures in adults and children. We hypothesize that the polymorphic alleles and genotypes of COL1A1 gene influence bone mineralization and metabolism in children with juvenile idiopathic arthritis (JIA). Methods We recruited 196 children with JIA in our study. Bone mineral density (BMD) was measured by lumbar spine dual-energy X-ray absorptiometry. Osteocalcin , Ca, Ca2+ and inorganic phosphate (Pi) were utilized for the assessment of bone metabolism. Molecular testing: Sp1 (rs1800012) and -1997G/T (rs1107946) polymorphisms of COL1A1 gene were detected RFLP . Results No differences in genotype, allele and haplotype distribution of COL1A1 were detected among children with normal and low BMD (LBMD; p = 0.02) as well as GG genotype of -1997G/T increased the frequency of LBMD in Tanner IV to V children (OR = 4.5 [95% CI, 0.9; 22.0], p = 0.048). Tanner I children with -1997GG genotype had lower Ca2+ and osteocalcin and higher Pi compared with carriers of -1997Т allele. Tanner IV to V children with -1997GG genotype had lower BMD and BMD-Z score than carriers of -1997Т. Conclusions The evaluation of the biologic effects of the GG Sp1 and GG of -1997G/T polymorphism of COL1A1 has shown negative effect on BMD and mineral turnover related to pubertal stage.
机译：背景I型胶原蛋白是参与骨骼成熟，发育和矿化的关键蛋白质之一。 I型胶原蛋白α-1链（COL1A1）基因的遗传多态性与成人和儿童的低骨矿物质密度和较高的骨折风险相关。我们假设，COL1A1基因的多态性等位基因和基因型影响儿童特发性关节炎（JIA）儿童的骨矿化和代谢。方法我们招募了196名JIA儿童。骨密度（BMD）通过腰椎双能X线吸收法测定。骨钙素，Ca，Ca 2 + 和无机磷酸盐（Pi）用于评估骨代谢。分子测试：RFLP检测到COL1A1基因的Sp1（rs1800012）和-1997G / T（rs1107946）多态性。结果正常和低BMD（LBMD; p = 0.02）患儿的COL1A1基因型，等位基因和单倍型分布均无差异，而-1997G / T的GG基因型增加了Tanner IV至V患儿LBMD的发生频率（ OR = 4.5 [95％CI，0.9; 22.0]，p = 0.048）。与-1997Т等位基因携带者相比，具有-1997GG基因型的Tanner I儿童的Ca 2 + 和骨钙素较低，Pi较高。具有-1997GG基因型的Tanner IV至V儿童的BMD和BMD-Z得分低于-1997Т携带者。结论对COL1A1的-1997G / T多态性的GG Sp1和GG的生物学效应进行评估显示，其对BMD和青春期相关的矿物质更新具有负面影响。

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