Association Study of BMP4, IL6, Leptin, MMP3, and MTNR1B Gene Promoter Polymorphisms and Adolescent Idiopathic Scoliosis

Abstract

the genetic effect of promoter polymorphisms of BMP4, IL6, leptin, MMP3, and MTNR1B can be synergistic for susceptibility to AIS. The combinatorial effect can modulate the final biological impact of many susceptibility polymorphisms; therefore, this should be considered at the comparison of results from case-control studies of different populations.

Higher Levels of Melatonin in Early Stages of Adolescent Idiopathic Scoliosis

“…[16][17][18] Several genetic studies failed to identify mutations in the genes responsible for the production of melatonin. [19][20][21][22][23][24] There is only one study suggesting that the MTNR1B gene responsible for a melatonin receptor is a predisposing factor for the development of AIS. 25 Recent studies focus on the role of Gi proteins on the cellular membrane, which are in contact with the melatonin receptors and play an important role in the phosphorylation of other cell proteins, such as protein kinase A and C. The role of Gi proteins seems to be crucial, leading to a transmembrane dysfunction, which in turn affects the transfer of the melatonin hormonal message inside the cell by altering c-AMP levels.…”

Association Between IL-6 and MMP3 Common Genetic Polymorphisms and Idiopathic Scoliosis in Bulgarian Patients

“…The MMP3 À1171 5A allele enhanced in vivo gene expression by two-to fourfold than that of MMP3 À1171 6A allele. 6 A case-control study conducted by Aulisa et al 5 in 2007 was the first one which investigated the role of the IL-6 and MMP3 functional polymorphisms in the pathogenesis of AIS and concluded that the MMP3 (À1171 5A/6A) and IL-6 (À174G/C) promoter polymorphisms constitute important factors for the genetic predisposition to scoliosis. No significant differences in the frequencies of the BMP4, Leptin, IL-6, MMP3, and MTNR1B polymorphisms were reported throughout the cases and controls in a Hungarian population sample.…”

“…The transfection of IL-6 À174C alleles into HeLa cells in vitro has resulted in a decrease in IL-6 production compared to that of IL-6 À174G. 6 Matrix metalloproteinases (MMPs) constitute the largest family of enzymes responsible for degrading various extracellular matrix components. An adenine insertion/deletion polymorphism (5A/6A) at position À1171 of the promoter region of MMP3 influences transcription factor binding and promoter activity.…”

“…17,18 The IL-6 and MMP3 genes have been considered as candidate genes of IS in Caucasian population. 5,6 IL-6 is involved in the activation of the immune system, in regenerative processes, in the regulation of metabolism, in the maintenance of bone homeostasis, and in many neural functions. 19 The most frequently studied polymorphism is the IL-6 (À174G/C) promoter polymorphism, which has been associated with transcription rates of IL-6.…”

“…Genes with high biological relevance to the disease would be selected as candidates. In Europe, during the period from 2002 to 2015 common polymorphisms in 13 candidate genes for IS [5][6][7][8][9][10][11][12][13][14][15][16] have been investigated. Two studies on gene expression have been performed and several genes with change expression in patients with juvenile and adolescent IS have been reported.…”