rs11663316 - RPS4XP19 - NDUFV2

Magnitude 4.5 · 2 studies on file

Reported associations

• and Loci Associate with Plasma Osmolality. - Journal of the American Society of Nephrology : JASN (2017) · Böger CA, Gorski M, McMahon GM, Xu H, Chang YC, van der Most PJ, Navis G, Nolte IM, de Borst MH, Zhang W, Lehne B, Loh M, Tan ST, Boerwinkle E, Grams ME, Sekula P, Li M, Wilmot B, Moon JG, Scheet P, Cucca F, Xiao X, Lyytikäinen LP, Delgado G, Grammer TB, Kleber ME, Sedaghat S, Rivadeneira F, Corre T, Kutalik Z, Bergmann S, Nielson CM, Srikanth P, Teumer A, Müller-Nurasyid M, Brockhaus AC, Pfeufer A, Rathmann W, Peters A, Matsumoto M, de Andrade M, Atkinson EJ, Robinson-Cohen C, de Boer IH, Hwang SJ, Heid IM, Gögele M, Concas MP, Tanaka T, Bandinelli S, Nalls MA, Singleton A, Tajuddin SM, Adeyemo A, Zhou J, Doumatey A, McWeeney S, Murabito J, Franceschini N, Flessner M, Shlipak M, Wilson JG, Chen G, Rotimi CN, Zonderman AB, Evans MK, Ferrucci L, Devuyst O, Pirastu M, Shuldiner A, Hicks AA, Pramstaller PP, Kestenbaum B, Kardia SLR, Turner ST, Study LC, Briske TE, Gieger C, Strauch K, Meisinger C, Meitinger T, Völker U, Nauck M, Völzke H, Vollenweider P, Bochud M, Waeber G, Kähönen M, Lehtimäki T, März W, Dehghan A, Franco OH, Uitterlinden AG, Hofman A, Taylor HA, Chambers JC, Kooner JS, Fox CS, Hitzemann R, Orwoll ES, Pattaro C, Schlessinger D, Köttgen A, Snieder H, Parsa A, Cohen DM · PubMed 28360221

  Disorders of water balance, an excess or deficit of total body water relative to body electrolyte content, are common and ascertained by plasma hypo- or hypernatremia, respectively. We performed a two-stage genome-wide association study meta-analysis on plasma sodium concentration in 45,889 individuals of European descent (stage 1 discovery) and 17,637 additional individuals of European descent (stage 2 replication), and a transethnic meta-analysis of replicated single-nucleotide polymorphisms in 79,506 individuals (63,526 individuals of European descent, 8765 individuals of Asian Indian descent, and 7215 individuals of African descent). In stage 1, we identified eight loci associated with plasma sodium concentration at <5.0 × 10 Of these, rs9980 at replicated in stage 2 meta-analysis ( =

• GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy. - Epilepsy research (2016) · Jang HW, Kim SW, Cho YJ, Heo K, Lee BI, Lee SK, Jang IJ, Lee MG, Kim WJ, Lee JH · PubMed 26220383

  Lamotrigine (LTG)-induced maculopapular eruption (MPE) often causes treatment discontinuation and rising burdens on current healthcare systems. We conducted a genome-wide association study to identify novel susceptibility loci associated with LTG-induced MPE in patients with epilepsy. We enrolled patients with LTG-induced MPE (n=34) and utilized the Korea Association Resource project cohort as a control group (n=1214). We explored associations between LTG-induced MPE and single nucleotide polymorphisms (SNPs) through imputation and replicated these associations in samples from 59 LTG-induced MPE cases and 98 LTG tolerant-controls. We found two novel SNPs associated with LTG-induced MPE: rs12668095 near CRAMP1L/TMEM204/IFT140/HN1L (P=4.89×10(-7)) and rs79007183 near TNS3 (P=3.15×10(-10)),

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.