Objective: We explored the association between genetic polymorphisms of HAIRY-AND-ENHANCER-OF-SPLIT-7 (HES7) and congenital scoliosis (CS) in 246 cases of congenital scoliosis and non-congenital controls, in which the age and sex were fully matched. All participants were Chinese Han population.
Methods: The genome DNA was extracted from peripheral blood sample. Two SNPs were defined for HES7 using NCBI database. The genotypes of two SNPs were determined by SNP stream UHT Genotyping System.
Results: Polymorphisms were found in both SNPs and in accordance with Hardy-Weinberg equilibrium. For SNP rs3027279, the difference of two alleles (C and A) frequencies between CS and control groups Was statistically significant. Analysis also showed the difference of two genotypes (C/C and C/A) frequencies between two groups was significant (χ(2)=5.857, P<0.05). For SNP rs1442849, both difference of two alleles (A and G) frequencies and difference of three genotypes (G/G, G/A and AA) frequencies between two groups were shown statistically significant.
Conclusions: The unconditional Logistic regression analysis showed A/A genotype of SNP rsl442849 may be a protective factor (P=0.018<0.05, OR-0.35, 95% CI=0.17-0.74) for the onset of CS, while C/A genotype of SNP rs3027279 increased the onset risk (P=0.015<0.05, OR=1.93, 95% CI=1.13-3.30) of CS. Linkage disequilibrium analysis demonstrated the existence of linkage disequilibrium between the two SNPs.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4659097 | PMC |
Publication Analysis
Top Keywords
Similar Publications
Pulmonary Morbidity in Congenital Diaphragmatic Hernia Survivors Treated at a Non-ECMO Center From 1998 to 2015: A Cross-Sectional Study.
Pediatr Pulmonol
January 2025
Department of Clinical Research, Faculty of Health sciences, University of Southern Denmark, Odense, Denmark.
Introduction: A main feature of CDH is lung hypoplasia and the related presentation of pulmonary hypertension and cardiac dysfunction. Multiple factors influence pulmonary status after CDH: degree of hypoplasia, ventilator-induced injury, altered growth and development of pulmonary structures, reduced diaphragm function and chest wall abnormalities. The evolution of pulmonary sequela in this population is still unclear.
View Article and Find Full Text PDFCongenital scoliosis presenting in teenage years outcomes without hemivertebra excision.
Spine Deform
January 2025
Department of Orthopaedics, Spinal Deformity and Pediatric Orthopaedics, Billie and George Ross Center for Advanced Pediatric Orthopaedics and Minimally Invasive Spinal Surgery, Cohen Children's Medical Center, Northwell Hofstra School of Medicine, 7 Vermont Drive, Lake Success, NY, 11042, USA.
Purpose: In congenital scoliosis, the surgical strategy approach of hemivertebra excision, with or without instrumentation and fusion, is a common approach to correction of scoliosis. However, hemivertebra excisions are technically challenging, with potential complications including spinal cord injury, nerve root injury and cerebrospinal fluid leak. The purpose of this study was to determine whether correction of congenital scoliosis can be achieved using a posterior instrumentation/fusion-only approach without the need for hemivertebra excision.
View Article and Find Full Text PDF[SELENON-related myopathy with scoliosis and respiratory failure since early childhood diagnosed through reassessment during pediatric-to-adult healthcare transition: a case report].
Rinsho Shinkeigaku
January 2025
Department of Neurology, The University of Tokyo Hospital.
The patient was a 33-year-old woman with no family history of a similar disorder. At one year of age, she exhibited scoliosis and respiratory failure, necessitating a tracheostomy performed at 5 years of age (1990s). During that time, the patient was provisionally diagnosed with "non-Fukuyama congenital muscular dystrophy" via muscle biopsy.
View Article and Find Full Text PDFEfficacy and Risks of Posterior Vertebral Column Resection in the Treatment of Severe Pediatric Spinal Deformities: A Case Series.
J Clin Med
January 2025
Department of Spine Surgery, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
: Surgery for adolescent idiopathic deformities is often aimed at improving aesthetic appearance, striving for the best possible correction. However, severe and rigid scoliotic curves not only present aesthetic issues but can also compromise cardiopulmonary health and cause early neurological impairment due to spinal cord compression, posing significant risks of morbidity and mortality if untreated. Conservative treatments are ineffective for severe curves, defined by scoliotic angles over 70° and flexibility below 30% on lateral bending X-rays.
View Article and Find Full Text PDFVariants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.
Proc Natl Acad Sci U S A
January 2025
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
SOX9 is a crucial transcriptional regulator of cartilage development and homeostasis. Dysregulation of is associated with a wide spectrum of skeletal disorders, including campomelic dysplasia, acampomelic campomelic dysplasia, and scoliosis. Yet how variants contribute to the spectrum of axial skeletal disorders is not well understood.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!