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المرشدAbou Madi, Marawan
المؤلفYounes, Nadin Nagy
تاريخ الإتاحة2019-07-30T11:01:30Z
تاريخ النشر2019-06
معرّف المصادر الموحدhttp://hdl.handle.net/10576/11683
الملخصOsteoporosis is an increasingly prevalent, global health burden characterized by low bone mineral density (BMD) and increased fracture risk. Despite the serious consequences of osteoporosis and the significant impact it can have on human health, the majority of affected individuals are unaware of the disease because of its asymptomatic 'silent' nature. Understanding the genetic basis of the Osteoporosis is crucial to fully elucidate the etiology of the disease. Towards this goal, genome-wide association studies (GWAS) have identified a number of promising genetic variants that are associated with osteoporosis and low BMD. Here, we undertook a genomewide association study (GWAS) in 3000 healthy Qatari individuals from Qatar Biobank to identify risk genetic variants associated with low BMD in the Qatari population. 19 significant single-nucleotide polymorphisms (SNPs) have been identified to be associated with BMD (P<5×10−8). Of these, 6 SNPs were replicated and directionally consistent in UK Biobank, in which 2 of these SNPs were identified and known to be involved in the Wnt signaling pathways which is important in bone formation. The other 13 SNPs weren’t associated to any diseases and thus were regarded as novel. 8 of these variants were intronic variants harbored in 8 gene loci; MALAT1, MRPL39, FASLG, SAG, FAM189A2, RP11-15A1.7, LSAMP, and BMPR1B and 5 were intergenic variants. The finding of our study, which to our knowledge is the first GWAS of any form of bone disease in the Qatari population, provide new insights into the genetic architecture of BMD. Further studies are needed to identify the causal variants and their functional effects to unveil unknown players contributing to BMD variation and fracture susceptibility.
اللغةen
الموضوعOsteoporosis - bone mineral density (BMD)
الموضوعgenome-wide association studies (GWAS)
الموضوعsingle-nucleotide polymorphisms (SNPs)
العنوانGenome-Wide Association Study (Gwas) To Uncover Genetic Risk Factors Associated With Low Bone Mineral Density And Osteoporosis In Qatar Population
النوعMaster Thesis
التخصصBiomedical Sciences


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