However, to our knowledge, the relationship of estrogen receptor gene polymorphisms and the individual susceptibility to idiopathic scoliosis has not been studied.
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.
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.
To our knowledge, however, the relationship of estrogen receptor beta gene polymorphisms and the individual susceptibility to idiopathic scoliosis has not been studied.
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).
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.
The aim of this study was to examine the association between idiopathic scoliosis and genetic polymorphism of angiotensin-converting enzyme and α-actinin-3.
The aim of this study was to examine the association between idiopathic scoliosis and genetic polymorphism of angiotensin-converting enzyme and α-actinin-3.
Our findings suggest a rare variant in CELSR2 as causative for idiopathic scoliosis in a family with dominant segregation and further highlight common variation in CELSR2 in general susceptibility to idiopathic scoliosis in the Swedish-Danish population.
The allele -509T and genotype -509TT of the TGFB1 gene were significantly associated with the increased risk of idiopathic scoliosis in both females and males (P < 0.01).
To investigate the effects of genetic factors on idiopathic scoliosis (IS) and genetic modes through genetic epidemiological survey on IS in Chongqing City, China, and to determine whether SH3GL1, GADD45B, and FGF22 in the chromosome 19p13.3 are the pathogenic genes of IS through genetic sequence analysis.