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DOI: 10.1371/journal.pgen.1001045
¤ OpenAccess: Gold
This work has “Gold” OA status. This means it is published in an Open Access journal that is indexed by the DOAJ.

Genome-Wide Association Studies of Serum Magnesium, Potassium, and Sodium Concentrations Identify Six Loci Influencing Serum Magnesium Levels

Tamra E. Meyer,Germaine C. Verwoert,Shih‐Jen Hwang,Nicole L. Glazer,Albert V. Smith,Frank J.A. van Rooij,Georg Ehret,Eric Boerwinkle,Janine F. Felix,Tennille S. Leak,Tamara B. Harris,Qiong Yang,Abbas Dehghan,Thor Aspelund,Ronit Katz,Georg Homuth,Thomas Kocher,Rainer Rettig,Janina S. Ried,Christian Gieger,Hanna Prucha,Arne Pfeufer,Thomas Meitinger,Josef Coresh,Albert Hofman,Mark J. Sarnak,Yii‐Der Ida Chen,André G. Uitterlinden,Aravinda Chakravarti,Bruce M. Psaty,Cornelia M. van Duijn,W.H. Linda Kao,Jacqueline C. M. Witteman,Vilmundur Gudnason,David S. Siscovick,Caroline S. Fox,Anna Köttgen

Hypomagnesemia
Single-nucleotide polymorphism
Genome-wide association study
2010
Magnesium, potassium, and sodium, cations commonly measured in serum, are involved in many physiological processes including energy metabolism, nerve and muscle function, signal transduction, and fluid and blood pressure regulation. To evaluate the contribution of common genetic variation to normal physiologic variation in serum concentrations of these cations, we conducted genome-wide association studies of serum magnesium, potassium, and sodium concentrations using approximately 2.5 million genotyped and imputed common single nucleotide polymorphisms (SNPs) in 15,366 participants of European descent from the international CHARGE Consortium. Study-specific results were combined using fixed-effects inverse-variance weighted meta-analysis. SNPs demonstrating genome-wide significant (p<5 x 10(-8)) or suggestive associations (p<4 x 10(-7)) were evaluated for replication in an additional 8,463 subjects of European descent. The association of common variants at six genomic regions (in or near MUC1, ATP2B1, DCDC5, TRPM6, SHROOM3, and MDS1) with serum magnesium levels was genome-wide significant when meta-analyzed with the replication dataset. All initially significant SNPs from the CHARGE Consortium showed nominal association with clinically defined hypomagnesemia, two showed association with kidney function, two with bone mineral density, and one of these also associated with fasting glucose levels. Common variants in CNNM2, a magnesium transporter studied only in model systems to date, as well as in CNNM3 and CNNM4, were also associated with magnesium concentrations in this study. We observed no associations with serum sodium or potassium levels exceeding p<4 x 10(-7). Follow-up studies of newly implicated genomic loci may provide additional insights into the regulation and homeostasis of human serum magnesium levels.
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    Genome-Wide Association Studies of Serum Magnesium, Potassium, and Sodium Concentrations Identify Six Loci Influencing Serum Magnesium Levels” is a paper by Tamra E. Meyer Germaine C. Verwoert Shih‐Jen Hwang Nicole L. Glazer Albert V. Smith Frank J.A. van Rooij Georg Ehret Eric Boerwinkle Janine F. Felix Tennille S. Leak Tamara B. Harris Qiong Yang Abbas Dehghan Thor Aspelund Ronit Katz Georg Homuth Thomas Kocher Rainer Rettig Janina S. Ried Christian Gieger Hanna Prucha Arne Pfeufer Thomas Meitinger Josef Coresh Albert Hofman Mark J. Sarnak Yii‐Der Ida Chen André G. Uitterlinden Aravinda Chakravarti Bruce M. Psaty Cornelia M. van Duijn W.H. Linda Kao Jacqueline C. M. Witteman Vilmundur Gudnason David S. Siscovick Caroline S. Fox Anna Köttgen published in 2010. It has an Open Access status of “gold”. You can read and download a PDF Full Text of this paper here.