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SPRY4遗传多态性与中国汉族人群青少年特发性脊柱侧凸相关：一项单中心回顾性研究

Genetic Polymorphisms of SPRY4 are Associated with Adolescent Idiopathic Scoliosis in Chinese Han Population: A Single Center Retrospective Study

    摘要
  • 摘要:
      目的  探究SPRY4基因多态性与中国汉族人群青少年特发性脊柱侧凸(adolescent idiopathic scoliosis，AIS)及PUMC分型的相关性，以期为该病的病因学研究提供思路。
      方法  回顾性收集2017年12月—2021年12月北京协和医院诊治的中国北方地区汉族AIS患者及按年龄、性别与其进行1∶1匹配的健康受试者临床资料。比较二者SPRY4基因rs3797053、rs10040443位点等位基因频率及基因型分布差异，并分析上述位点基因型与AIS患者PUMC分型的关联性。
      结果  共入选符合纳入与排除标准的AIS患者97例，健康受试者100名。AIS患者rs10040443位点等位基因C17.5%(34/194)比8.0%(16/200)，P=0.005及CC基因型频率10.3%(10/97)比1.0%(1/100)，P=0.0014均高于健康受试者，rs3797053位点等位基因频率及基因型分布与健康受试者均无显著差异(P均＞0.05)。多因素Logistic回归分析校正性别的影响后，rs10040443位点多态性在共显性、隐性及加性遗传模式下与AIS均存在关联性，其CC基因型可增加AIS发生风险；在各种遗传模式下，rs3797053位点多态性与AIS均无明显关联性。AIS患者SPRY4基因rs10040443位点基因型分布与PUMC分型具有一定关联性，CT+TT基因型患者中PUMC Ⅱ型的比例显著高于CC基因型患者(66.67% 比0，P＜0.001)；rs3797053位点基因型分布与PUMC分型无明显关联性(P=0.315)。
      结论  中国北方地区汉族人群SPRY4基因rs10040443位点多态性与AIS相关，该位点CC基因型可能是AIS的危险因素，CT+TT基因型与PUMC Ⅱ型具有一定关联。

     

    Abstract:
      Objective  To explore the correlation between SPRY4 gene polymorphism and typing of adolescent idiopathic scoliosis (AIS) and PUMC in Han Chinese, in order to provide insights for etiological research of the disease.
      Methods  Clinical data were retrospectively collected from Han nationality patients with AIS in northern China treated at Peking Union Medical College Hospital from December 2017 to December 2021, and healthy subjects were matched 1∶1 with them by age and sex. The allele frequency and genotype distribution of rs3797053 and rs10040443 of SPRY4 gene were compared, and the association between the above loci genotypes and PUMC typing of AIS patients was analyzed.
      Results  A total of 97 patients with AIS and 100 healthy subjects who met inclusion and exclusion criteria were included in this study. The rs10040443 allele C17.5%(34/194) vs. 8.0%(16/200), P=0.005 and the distribution frequency of CC genotype 10.3%(10/97) vs. 1.0%(1/100), P=0.0014 in AIS patients were higher than those in healthy subjects. There was no significant difference in allele frequency and genotype distribution of rs3797053 between AIS patients and healthy subjects (all P > 0.05). After adjusting for gender, multiple Logistic regression analysis showed that rs10040443 polymorphism was associated with AIS in codominant, recessive and additive genetic modes, and CC genotype could increase the risk of AIS. There was no significant association between rs3797053 polymorphism and AIS in all genetic models. The genotype distribution of rs10040443 of SPRY4 gene in AIS patients was associated with PUMC typing. The proportion of PUMC Ⅱ in CT+TT genotype patients was significantly higher than that in CC genotype patients (66.67% vs. 0, P < 0.001). Rs3797053 genotype distribution was not significantly associated with PUMC genotype distribution (P=0.315).
      Conclusions  The polymorphism of rs10040443 of SPRY4 gene is associated with AIS in northern Chinese Han population. CC genotype of this locus may be a risk factor for AIS, and CT+TT genotype is associated with PUMCⅡ type.

     

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