title: ATP2B1 and blood pressure:  from associations to pathophysiology.
abstract: OBJECTIVE
  Recent genome-wide association studies (GWAS) have revealed that the ATP2B1 gene is associated with hypertension not only in people of European origin, but also in Japanese, Chinese, and Koreans. However, ATP2B1 has never been considered to be a candidate gene for essential hypertension. Thus, this review summarizes the findings obtained in GWAS regarding the role of the ATP2B1 gene in essential hypertension, as well as recent suggestions about the mechanisms responsible for the effects of the ATP2B1 gene on calcium homeostasis. We also review the findings of studies involving spontaneously hypertensive rats and tissue-specific ATP2B1 knockout mice examining the effects of ATP2B1 on hypertension.
  
  
  RESULTS
  The ATP2B1 gene has been revealed to be a hypertension-susceptibility gene in large-scale GWAS studies. Meta-analysis of the ATP2B1 gene polymorphisms associated with hypertension confirmed that ATP2B1 is significantly associated with hypertension in East Asians. Moreover, vascular smooth muscle cell ATP2B1 knockout mice exhibited high blood pressure in radio telemetry-based experiments.
  
  
  CONCLUSIONS
  The ATP2B1 gene has been demonstrated to have a strong influence on blood pressure. Detailed analysis of tissue-specific knockout mice is expected to further confirm the role of ATP2B1 in the near future.
authors: Division of Nephrology and Hypertension, Yokohama City University Medical Center, Yokohama, Japan. hirawa@yokohama-cu.ac.jp
authors: Nobuhito
authors: N
authors: Hirawa
authors: Akira
authors: A
authors: Fujiwara
authors: Satoshi
authors: S
authors: Umemura
mesh_terms: D000818:Animals; D044466:Asian People / Q000235:genetics; D001794:Blood Pressure / Q000235:genetics*; D002118:Calcium / Q000378:metabolism; D004195:Disease Models, Animal; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D006973:Hypertension / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology*; D051379:Mice; D018345:Mice, Knockout; D010641:Phenotype; D053499:Plasma Membrane Calcium-Transporting ATPases / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D051381:Rats; D011918:Rats, Inbred SHR; D044465:White People / Q000235:genetics
chemical_list: C506952:ATP2B1 protein, human; D053499:Plasma Membrane Calcium-Transporting ATPases; C506954:Atp2b1 protein, mouse; C506955:Atp2b1 protein, rat; D002118:Calcium