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Contribution of Genetic Background and Clinical Risk Factors to Low-Trauma Fractures in Human Immunodeficiency Virus (HIV)-Positive Persons: The Swiss HIV Cohort Study.

Type of publication Peer-reviewed
Publikationsform Original article (peer-reviewed)
Author Junier Thomas, Rotger Margalida, Biver Emmanuel, Ledergerber Bruno, Barceló Catalina, Bartha Istvan, Kovari Helen, Schmid Patrick, Fux Christoph, Bernasconi Enos, Brun Del Re Claudia, Weber Rainer, Fellay Jacques, Tarr Philip E,
Project Swiss HIV Cohort Study (SHCS)
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Original article (peer-reviewed)

Journal Open forum infectious diseases
Volume (Issue) 3(2)
Page(s) 101 - 101
Title of proceedings Open forum infectious diseases
DOI 10.1093/ofid/ofw101

Open Access

Type of Open Access Publisher (Gold Open Access)


Background.  The impact of human genetic background on low-trauma fracture (LTF) risk has not been evaluated in the context of human immunodeficiency virus (HIV) and clinical LTF risk factors. Methods.  In the general population, 6 common single-nucleotide polymorphisms (SNPs) associate with LTF through genome-wide association study. Using genome-wide SNP arrays and imputation, we genotyped these SNPs in HIV-positive, white Swiss HIV Cohort Study participants. We included 103 individuals with a first, physician-validated LTF and 206 controls matched on gender, whose duration of observation and whose antiretroviral therapy start dates were similar using incidence density sampling. Analyses of nongenetic LTF risk factors were based on 158 cases and 788 controls. Results.  A genetic risk score built from the 6 LTF-associated SNPs did not associate with LTF risk, in both models including and not including parental hip fracture history. The contribution of clinical LTF risk factors was limited in our dataset. Conclusions.  Genetic LTF markers with a modest effect size in the general population do not improve fracture prediction in persons with HIV, in whom clinical LTF risk factors are prevalent in both cases and controls.