LEPTIN RECEPTOR GENE POLYMORPHISMS AND GENETICS OF OSTEOPOROSIS

Siswo, Legiran LEPTIN RECEPTOR GENE POLYMORPHISMS AND GENETICS OF OSTEOPOROSIS. Buku Panduan dan Kumpulan Abstrak : Anatomy for Better Quality of Life 12-13 Oktober 2012.

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    Abstract

    Background. Osteoporosis is the porous of bone which is characterized by low of BMD and loss of microarchitecture of bone tissue affecting to bone strength and increased risk of fractures. Genetics factor has 60-80% of the variation in adult bone mass. A number of genes have been studied and well known associated with BMD. Nowadays, leptin is not only having a role in the regulation of body weight but also in increased bone formation. The function of leptin is mediated by leptin receptors so that the genetic variation of leptin receptor would affect the phenotype of bone mass density. Purpose. To review of articles concerning of the leptin receptor gene polymorphisms and the genetics of osteoporosis through research publication. Review. According to genes are involved, genetics of osteoporosis can be classified into the following different categories: established gene, promising gene, and inconclusive gene. Established and promising genes have a role among the three biological pathways, the estrogen endocrine pathway, the Wnt signaling/β-catenin signaling pathway, and RANKL/RANK/OPG pathway. Leptin receptor gene polymorphisms associated with BMD have been identified. Among of these polymorphisms is the adenine to guanine transition at position 668 in exon 6 resulting in an amino acid substitution (Gln223Arg) in the extracellular domain of all isoforms receptor. The study of this polymorphism shows an association with fat mass, and BMD of the hip. Relationships of three locations of single nucleotide polymorphisms (SNPs) of leptin receptor gene have been identified i.e. Lys109Arg, Gln223Arg, and Lys656Asn. The studies of SNPs of leptin receptor gene indicated that SNPs of Gln223Arg was strongly associated with BMD. Conclusion. Need the study of genetic variation of leptin receptor in order to the role of leptin receptor gene involvement in the genetics of osteoporosis could be revealed. Keywords: polymorphisms, leptin receptor gene, bone mineral density, genetics of osteoporosis

    Item Type: Article
    Subjects: R Medicine > R Medicine (General)
    Divisions: Faculty of Medicine
    Depositing User: Doktor Legiran Siswo
    Date Deposited: 04 Aug 2015 00:36
    Last Modified: 04 Aug 2015 00:36
    URI: http://eprints.unsri.ac.id/id/eprint/5717

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