PvuII SNP (C/T rs2234693) of ESR1 was described to be associated with the occurrence of IS in the Chinese population; however, two replication studies did not confirm the findings.
Furthermore, we extracted DNA from white blood cells of IS patients and their relatives until the third generation in order to examine estrogen receptor alpha polymorphisms, considering this tool a plausible molecular marker for IS prognosis.
However, to our knowledge, the relationship of estrogen receptor gene polymorphisms and the individual susceptibility to idiopathic scoliosis has not been studied.
Another member of the chromatin-remodeling gene family, CHD7, has been associated with a defined constellation of congenital anomalies known as coloboma, heart anomaly, choanal atresia, mental retardation, genital and ear anomalies syndrome (CHARGE) and idiopathic scoliosis.
When compared with females, males with idiopathic scoliosis tend to have slightly higher scores in the scoliosis specific SRS-22r but not in the generic quality of life measurement EQ-5D.
When compared with females, males with idiopathic scoliosis tend to have slightly higher scores in the scoliosis specific SRS-22r but not in the generic quality of life measurement EQ-5D.
Three rare functional variants in the POC5 were recently reported to be strongly associated with the disease in a large family with multiple members affected with idiopathic scoliosis.
In a prospective cohort study, 259 patients with idiopathic scoliosis (mean age 30.2; 221 female; mean Cobb angle 43.8°) completed the G-BIDQ-S; Scoliosis Research Society 22-r (SRS 22-r); Patient Health Questionnaire (PHQ-9); Positive and Negative Affect Schedule (PANAS); Questionnaire on Body Dysmorphic Symptoms (FKS); and WHO-5 Well-Being Index.
In a prospective cohort study, 259 patients with idiopathic scoliosis (mean age 30.2; 221 female; mean Cobb angle 43.8°) completed the G-BIDQ-S; Scoliosis Research Society 22-r (SRS 22-r); Patient Health Questionnaire (PHQ-9); Positive and Negative Affect Schedule (PANAS); Questionnaire on Body Dysmorphic Symptoms (FKS); and WHO-5 Well-Being Index.
This case-control study revealed statistically significant association between the IL-6 (rs1800795) functional polymorphism and susceptibility to IS (χ = 16.055; P < 0.0001).
Here, we showed that miR-21 was significantly upregulated in degenerative nucleus pulposus tissues when compared with nucleus pulposus tissues that were isolated from patients with idiopathic scoliosis and that miR-10b levels were associated with disc degeneration grade.
The ESR2rs4986938 and rs1256049 polymorphisms were described to present association with breast cancer, rheumatoid arthritis, and bone mineral density, however the association with IS has not been evaluated.
Here, we showed that miR-10b was dramatically upregulated in degenerative nucleus pulposus tissues when compared with nucleus pulposus tissues isolated from patients with idiopathic scoliosis.
To our knowledge, however, the relationship of estrogen receptor beta gene polymorphisms and the individual susceptibility to idiopathic scoliosis has not been studied.
Compared with the control group, narrowed facet joint cartilage but increased proliferative chondrocytes and upregulated collagen type II (COL2A1) and B-cell lymphoma-2 (Bcl2) were observed in IS patients.