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12 August 2018 : Clinical Research  

Fat Mass and Obesity-Associated (FTO) Gene Polymorphisms Are Associated with Risk of Intervertebral Disc Degeneration in Chinese Han Population: A Case Control Study

Jia Chen12ABCDEF, Qiankun Zhu12ABCDE, Gang Liu123BCDF, Xinzhuang Yang4CDE, Sen Zhao12BCDF, Weisheng Chen12BCDF, Zhihong Wu234ABCDEFG, Nan Wu123ABCDEFG*, Guixing Qiu123ABCDEFG

DOI: 10.12659/MSM.911101

Med Sci Monit 2018; 24: CLR5598-5609


BACKGROUND: The present study aimed to evaluate whether the fat mass and obesity-associated (FTO) gene polymorphisms are associated with risk of intervertebral disc degeneration (IDD) in a largest Chinese Han population.

MATERIAL AND METHODS: There were 502 IDD patients and 497 healthy controls enrolled in this study. Nineteen single nucleotide polymorphisms (SNPs) in the FTO gene were tested using the Sequenom MassARRAY platform. The Hardy-Weinberg equilibrium test, followed by allelic, genotypic, haplotypic association, and SNP interaction analyses were used for SNP evaluation. The Genotype-Tissue Expression (GTEx) database was used to evaluate expression quantitative trait loci (eQTL) value of polymorphism. Spearman rank correlation and logistic regression analyses were used for assessing the internal relation between genotypic changes and the risk of IDD.

RESULTS: Seventeen SNPs survived the Hardy-Weinberg equilibrium test. Allelic analysis showed that allele T of SNP rs1121980 was a risk allele. Haplotypic and SNP interaction analyses suggested that 2 haplotypes and 5 SNP combinations were associated with the predisposition of IDD respectively. GTEx database revealed that the SNP rs1121980 might interfere with the expression of the FTO gene in the muscle-skeletal system. Through clinical statistics analysis, the different genotypes of rs1121980 can present different disease severity of IDD.

CONCLUSIONS: Our study suggests that rs1121980 can become a biomarker for the screening and prognosis of IDD. The 2 haplotype blocks and 5 SNP-SNP combinations that we discovered might be indicative of the onset of IDD. Therefore, our study might serve as evidence for future IDD molecular diagnosis.

Keywords: genetic linkage, intervertebral disc degeneration, Low Back Pain, Polymorphism, Single Nucleotide, Prognosis



12 September 2022 : Editorial  

Editorial: Treatment with Dual Incretin Receptor Agonists to Maintain Normal Glucose Levels May Also Maintain Normal Weight and Control Metabolic Dysfunction-Associated Fatty Liver Disease (MAFLD)

Ana Luisa Ordóñez-Vázquez, Sofía Murúa Beltrán-Gall, Shreya C. Pal, Nahum Méndez-Sánchez
Liver Research Unit, Medica Sur Clinic Foundation, Mexico City, Mexico

DOI: 10.12659/MSM.938365

Med Sci Monit 2022; 28:e938365


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Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750