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Potential genetic link between blood pressure and bone mineral density



DOI:10.1038/bonekey.2014.89

Epidemiological studies have suggested that blood pressure and several other diseases have a shared genetic origin. Andreassen et al. investigated genetic pleiotropy between systolic blood pressure (SBP) with other diseases, including schizophrenia, type 1 diabetes and celiac disease and with comorbid traits including body mass index (BMI), waist/hip ratio and bone mineral density (BMD).

The authors applied a new genetic pleiotropy-informed method to existing findings from several genome-wide association studies (GWAS), which has greater power to uncover the single nucleotide polymorphisms (SNP) associated with SBP and the other diseases and traits. The results demonstrate this may be a viable method to use to leverage further information from GWAS.

In total 62 loci were identified, including 42 novel ones; the genes CSNK1G3, IKBKAP, NMT1, and PLCD3 were pinpointed as being pleiotropic. The highest level of SNP enrichment was observed between SBP, BMI, low-density lipoprotein, waist/hip ratio, schizophrenia, BMD, type 1 diabetes mellitus, and celiac disease. Lower levels were noted for SBP and triglycerides, high-density lipoproteins, type 2 diabetes, rheumatoid arthritis and height.

Editor’s comment: The level of enrichment of SNPs associated with SBP and BMD was far greater than that associated with SBP and rheumatoid arthritis or SBP and height. The observed polygenic overlap between SBP and BMD indicates that an etiologic relationship between the two might exist. This is possibly mediated via vascular and renal processes, and warrants further investigation.


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