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QU College of Health Sciences and Sidra collaborate on a genome wide study to uncover risk factors associated with osteoporosis in the Qatari population | Qatar University

QU College of Health Sciences and Sidra collaborate on a genome wide study to uncover risk factors associated with osteoporosis in the Qatari population

2019-05-22

Osteoporosis is a 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, it remains a neglected health priority in the Arab world. The high prevalence of osteoporosis in the Qatari population places serious economic burden on patients, families, and nation. Thus, it is imperative to diagnose and treat osteoporosis as early as possible, however, because of the diseases’ silent nature, this is particularly challenging. Therefore, and as an important precautionary measure, understanding the genetic basis of osteoporosis is crucial to fully elucidate the etiology of the disease.

Dr. Marwan-Abu Madi and Nadin Younes from the Department of Biomedical Sciences at the College of Health Sciences (CHS) in Qatar University (QU) together with Dr. Mohammad Harris from the Division of Translational Medicine of Sidra Medical and Research Center, conducted the first genome wide association study on osteoporosis in Qatar on 3000 healthy unrelated Qatari participants from Qatar Biobank aging between 18 to 70. This study successfully identified 19 significant single nucleotide polymorphisms (SNPs); six of which were replicated by UK Biobank and the remaining 13 were novel in the Qatari population. These SNPs were harbored in genes known to play a critical role in bone formation and remodeling including the MALAT1, MRPL39, FASLG, FAM189A2, RP11-15A1.7, LSAMP, and BMPR1B genes.

The study provides new insights into the genetic architecture of osteoporosis, particularly in the Qatari population. Furthermore, these risk loci could serve as targets for the development of better treatment of osteoporosis as well as genetic predictors which could assist in the identification of individuals at risk of developing osteoporosis or bone fractures.

For future studies, the team will conduct in Silico Analysis on the functional and structural consequences of the novel identified SNPs to find out its molecular mechanism in bone remodeling and osteogenesis process.