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

  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.