Association between adolescent idiopathic scoliosis with double curve and polymorphisms of calmodulin1 gene/estrogen receptor‐α gene

Abstract

Objective: To investigate whether single nucleotide polymorphisms (SNP) of the calmodulin1 (CALM1) and estrogen receptor-a genes correlate with double curve in adolescent idiopathic scoliosis (AIS).Methods: A total of 67 Chinese patients with AIS with double curve and 100 healthy controls were recruited. Curve pattern and Cobb angle of each patient were recorded. The Cobb angle is at least 30°. There were 60 patients with Cobb angle Ն 40°. According to the apical location of the major curve, there were 40 thoracic curve patients. Four polymorphic loci, including rs12885713 (-16C > T) and rs5871 in the CALM1 gene and rs2234693 (Pvu II) and rs9340799 (Xba I) in the estrogen receptor 1 (ER1) gene were analyzed by the ABI3730 genetic analyzer. Results:The current study indicates that: (i) there are statistical differences between patients with double curve, with Cobb angle Ն 40°and with thoracic curve and healthy controls in the polymorphic distribution of the rs2234693 site of the ER1 gene, (P = 0.014, 0.0128, 0.0184 respectively); (ii) there is a difference between patients with double curve and controls in the polymorphic distribution of the rs12885713 site in the CALM1 gene (P = 0.034); and (iii) there is a difference between thoracic curve patients and controls in the polymorphic distribution of the rs5871 site in the CALM1 gene (P = 0.0102).Conclusions: Different subtypes of AIS might be related to different SNP. A combination of CALM1 and ER1 gene polymorphisms might be related to double curve in patients with AIS. Further study is necessary to confirm these hypotheses.

The estrogen receptor α gene (XbaI, PvuII) polymorphisms and susceptibility to idiopathic scoliosis: a meta-analysis

“…Besides, Tang et al [16] demonstrated no association of XbaI polymorphism with occurrence, Cobb angle, or with anthropometric measurements in the Chinese Han population, which is consistent with Takahashi et al's research [17]. For ERa PvuII, one article [18] reported that ERa PvuII might be related to double curve in patients with adolescent idiopathic scoliosis (AIS). However, in four other studies in the Chinese or the Japanese population, the PvuII site polymorphism alone did not show any association with idiopathic scoliosis [12,[14][15][16].…”

“…There was a series of studies that looked into the association between the ERa XbaI A/G and ERa PvuII T/C polymorphisms and idiopathic scoliosis susceptibility; however, the results obtained were inconsistent or Table 1 General characteristics of studies included in the meta-analysis Products of PCR were genotyped by ABI3700 machine controversial [12][13][14][15][16][17][18]20]. To our knowledge, no metaanalysis has previously been published on the relationship between ERa XbaI A/G and ERa PvuII T/C polymorphisms and idiopathic scoliosis to address this issue.…”

XbaI and PvuII Polymorphisms of Estrogen Receptor 1 Gene in Females with Idiopathic Scoliosis: No Association with Occurrence or Clinical Form

“…Zhao et al postulated association of PvuII with double curve severe scoliosis in the Chinese population [18]. In three other studies the Chinese or the Japanese population, the PvuII site polymorphism alone did not show any association with IS [13], [15], [16].…”

Idiopathic scoliosis

“…Montanaro discovered that MATN1 single nucleotide polymorphism in 1p35 led to a disorder of chondrocyte distribution and caused scoliosis (61), whereas single nucleotide polymorphism at the Matrilin receptor level caused idiopathic scoliosis MTNR1B in 11q21-q22. Furthermore, an association between IS and Calmodulin1 (CALM1) gene polymorphisms has been reported (106). Esposito et al showed that steroid binding protein polymorphisms were effective in IS development (26).…”