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Genetic Polymorphisms of SPRY4 are Associated with Adolescent Idiopathic Scoliosis in Chinese Han Population: A Single Center Retrospective Study
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摘要:
目的 本研究旨在通过回顾性病例对照研究，评价SPRY4基因rs3797053，rs10040443位点多态性与中国汉族青少年特发性脊柱侧凸的相关性，从而探索该病的危险因素或病因。 方法 依据青少年特发性脊柱侧凸诊断标准,共纳入197例受试者,包括97例青少年特发性脊柱侧凸患者和100例正常的健康组。运用全基因组测序的方法检测SPRY4基因上rs3797053、rs10040443位点的多态性,并采用Logistic回归模型对基因型、等位基因、携带频率分布进行统计学分析（ SPSS 25.0）。 结果 中国汉族青少年特发性脊柱侧凸组中携带SPRY4 rs3797053等位基因和基因型与健康组相比无统计学差异（ P=0.245，P=0.499）。SPRY4 rs10040443 C等位基因频率在AIS组中明显高于健康组（ 17.5% vs 8.0%，P=0.005 ），CC基因型和健康组相比具有统计学差异（ P=0.014）。该位点在AIS组中的基因型分布与PUMC分型相关(P=0.001)，它的基因型C/T+T/T与PUMCⅡ型患者的发病相关。 结论 中国汉族人群中SPRY4基因rs10040443与青少年特发性脊柱侧凸具有相关性,其中C等位基因可能是该疾病的危险因素。
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关键词:
- 多态性 /
- 青少年特发性脊柱侧凸 /
- 关联
Abstract:Objective The aim of this study was to evaluate the association between rs3797053 and rs10040443 polymorphisms of SPRY4 gene and idiopathic scoliosis in Chinese Han adolescents through a retrospective case-control study, so as to explore the risk factors or etiology of the disease. Methods A total of 197 subjects were included according to the adolescent idiopathic scoliosis diagnostic criteria, including 97 patients and 100 normal healthy subjects. Whole genome sequencing was used to detect the polymorphism of rs3797053 and rs10040443 in SPRY4 gene, and Logistic regression model was used to analyze the distribution of genotype, allele and carrier frequency (SPSS 25.0). Results There was no significant difference in the allele and genotype of SPRY4 rs3797053 in Chinese Han adolescent idiopathic scoliosis group compared with the healthy group (P=0.245, P=0.499). The frequency of SPRY4 rs10040443 C allele in AIS group was significantly higher than that in healthy group (17.5% vs 8.0%, P=0.005), and there was a significant difference between CC genotype and healthy group (P=0.014). The genotype distribution of this locus in AIS group was correlated with PUMC typing (P=0.001), and its genotype C/T+T/T was correlated with PUMC typeⅡ. Conclusions SPRY4 gene rs10040443 is associated with adolescent idiopathic scoliosis in Chinese Han population, and C allele may be a risk factor for this disease.
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Key words:
- polymorphisms /
- adolescent idiopathic scoliosis /
- association
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