Study Design: A genetic association study of leptin receptor (LEPR) gene with adolescent idiopathic scoliosis (AIS) in the Chinese Han population.
Objective: To determine whether LEPR gene polymorphisms are associated with the predisposition and/or disease severity of AIS.
Summary Of Background Data: Patients with AIS were reported to have lower body mass index (BMI), abnormal leptin bioavailability, and systemic lower bone mass, which implied that leptin/LEPR signaling pathway may be implicated in the etiology of AIS. Previous association study of the polymorphisms in leptin gene did not show significant differences between AIS cases and controls. However, no study has been done to investigate the relationship between genetic polymorphisms of the LEPR gene and susceptibility to AIS.
Methods: 570 patients with AIS aged 10 to 18 years were enrolled, and 570 age-matched healthy subjects were recruited as controls. 6 single nucleotide polymorphisms (SNPs) (rs1137101, rs1137100, rs4655555, rs2767485, rs1751492, and rs8179183) of LEPR gene were selected. The polymorphisms were genotyped using the polymerase chain reaction (PCR)-based Invader assay. Case-control study was performed to define the contribution of the 6 SNPs to predisposition of AIS. 1-way analysis of variance (ANOVA) test was used to compare the mean Cobb angles and BMI among patients with different genotypes in case-only analyses. Statistical significance was set at P < 0.05.
Results: Both the genotype and allele frequencies of SNP rs2767485 were significantly different between the patient with AIS and the control groups. No significant difference of allele frequency was noted in other 5 SNPs between the patients with AIS and the normal controls. Both the mean maximum Cobb angles and BMI of different genotype AIS groups were similar to each other for all the 6 SNPs (P > 0.05).
Conclusion: Polymorphism of rs2767485 in LEPR gene is associated with the occurrence of AIS, suggesting LEPR is a predisposition gene.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/BRS.0000000000001095 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Genotype frequency analysis of rs2025804 genetic variant in Iranian population.
J Diabetes Metab Disord
June 2025
Personalized Medicine Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, No. 10- Jalal -e-Ale-Ahmad Street, Chamran Highway, Tehran, 1411713119 Iran.
Objectives: The gene is a key focus in obesity research, with studies linking its polymorphisms to various diseases like polycystic ovarian syndrome and energy intake disorders. This study aims to investigate the prevalence of the rs2025804 variant within LEPR and its distribution among healthy individuals across diverse ethnic groups in Iran.
Methods: The frequency of the rs2025804 genotype in the gene was analyzed in 1142 healthy adults representing different ethnicities in Iran.
Impact of Chronic Intermittent Hypoxia on Cognitive Function and Hippocampal Neurons in Mice: A Study of Inflammatory and Oxidative Stress Pathways.
Nat Sci Sleep
December 2024
Clinical Department of National Clinical Research Center for Respiratory Diseases, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, People's Republic of China.
Purpose: Chronic intermittent hypoxia (CIH) is considered one of the main pathophysiological mechanisms of obstructive sleep apnea (OSA). CIH can further lead to cognitive dysfunction by inducing processes such as neuroinflammation and oxidative stress. The hippocampus is primarily associated with cognitive functions such as learning and memory.
View Article and Find Full Text PDFMulti-omics analysis reveals the cerebral sex-specific responses to chronic hypoxia in yellow catfish (Pelteobagrus fulvidraco).
Comp Biochem Physiol Part D Genomics Proteomics
December 2024
College of Life Science, Nanjing Normal University, Nanjing, Jiangsu, China. Electronic address:
Hypoxia disrupts multiple physiological processes, including metabolism, immunity, and reproduction in teleosts. The brain plays a critical role in adapting to environmental changes, regulating the endocrine system, and controlling reproduction. The present study investigated the sex-specific cerebral responses to chronic hypoxia through an integrated analysis of the transcriptome, proteome, and metabolome of yellow catfish.
View Article and Find Full Text PDFZebrafish navigating the metabolic maze: insights into human disease - assets, challenges and future implications.
J Diabetes Metab Disord
June 2025
Department of Biotechnology, School of Applied Sciences, REVA University, Bengaluru, Karnataka 560064 India.
Zebrafish () have become indispensable models for advancing our understanding of multiple metabolic disorders such as obesity, diabetes mellitus, dyslipidemia, and metabolic syndrome. This review provides a comprehensive analysis of zebrafish as a powerful tool for dissecting the genetic and molecular mechanisms of these diseases, focusing on key genes, like , , , and . Zebrafish offer distinct advantages, including genetic tractability, optical transparency in early development, and the conservation of key metabolic pathways with humans.
View Article and Find Full Text PDFGenetic variant in the AGT gene (rs699-GG) is associated with severe COVID-19 in Brazilian patients.
An Acad Bras Cienc
December 2024
Universidade Federal de Pernambuco, Departamento de Medicina Tropical, Av. Prof. Moraes Rego, s/n, Cidade Universitária, 50670-420 Recife, PE, Brazil.
The COVID-19 pandemic has been the largest pandemic of the past century, and various genetic factors have played a significant role in this context. This study aimed to analyze the frequency and association between specific SNPs rs3806268 (NLRP3), rs4925543 (NLRP3), rs12150220 (NLRP1), rs455060 (NLRC4), rs699 (AGT), rs1137101 (LEPR), and rs1801133 (MTHFR) and severe/critical outcomes in Brazilian patients with COVID-19. A total of 100 patients were included in the study, comprising 66 cases and 34 controls.
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!