V279F_human-PLA2G7

General

Gene Locus : human-PLA2G7

Mode of mutation : Natural mutant

Disease : Suceptibility to asthma and atopy, Platelet-activating factor acetylhydrolase (PLA2G7) deficiency (PAFAD) coronary artery disease risk factor

Summary :

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification :

Torpedo_number : No torpedo number

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
p.V279F Val279Phe c.G994T in PAFAD\; loss of function\; risk factor for coronary arthery disease and stroke. rs76863441

References (32)

Title : Association Lp-PLA2 Gene Polymorphisms with Coronary Heart Disease - Ma_2022_Dis.Markers_2022_9775699
Author(s) : Ma S , Ding L , Cai M , Chen L , Yan B , Yang J
Ref : Dis Markers , 2022 :9775699 , 2022
Abstract :
PubMedSearch : Ma_2022_Dis.Markers_2022_9775699
PubMedID: 35818585
Gene_locus related to this paper: human-PLA2G7

Title : Structural Modeling of Wild and Mutant Forms of Human Plasma Platelet Activating Factor-Acetyl Hydrolase Enzyme - Khan_2020_J.Inflamm.Res_13_1125
Author(s) : Khan MI , Hariprasad G
Ref : J Inflamm Res , 13 :1125 , 2020
Abstract :
PubMedSearch : Khan_2020_J.Inflamm.Res_13_1125
PubMedID: 33364808
Gene_locus related to this paper: human-PLA2G7

Title : Effects of overweight and the PLA2G7 V279F polymorphism on the association of age with systolic blood pressure - Kim_2017_PLoS.One_12_e0173611
Author(s) : Kim M , Yoo HJ , Jang HY , Lee SH , Lee JH
Ref : PLoS ONE , 12 :e0173611 , 2017
Abstract :
PubMedSearch : Kim_2017_PLoS.One_12_e0173611
PubMedID: 28334001
Gene_locus related to this paper: human-PLA2G7

Title : Correlations Between LP-PLA2 Gene Polymorphisms and Susceptibility and Severity of Acute Pancreatitis in a Chinese Population - Ma_2017_Genet.Test.Mol.Biomarkers_21_206
Author(s) : Ma M , Zhai CX , Sun CX
Ref : Genet Test Mol Biomarkers , 21 :206 , 2017
Abstract :
PubMedSearch : Ma_2017_Genet.Test.Mol.Biomarkers_21_206
PubMedID: 28332853

Title : Associations between four types of single-nucleotide polymorphisms in PLA2G7 gene and clinical atherosclerosis: a meta-analysis - Santoso_2017_Am.J.Cardiovasc.Dis_7_122
Author(s) : Santoso A , Maulana R , Alzahra F , Maghfirah I , Putrinarita AD , Heriansyah T
Ref : Am J Cardiovasc Dis , 7 :122 , 2017
Abstract :
PubMedSearch : Santoso_2017_Am.J.Cardiovasc.Dis_7_122
PubMedID: 29348973
Gene_locus related to this paper: human-PLA2G7

Title : Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib - Yeo_2017_PLoS.One_12_e0182115
Author(s) : Yeo A , Li L , Warren L , Aponte J , Fraser D , King K , Johansson K , Barnes A , Macphee C , Davies R , Chissoe S , Tarka E , O'Donoghue ML , White HD , Wallentin L , Waterworth D
Ref : PLoS ONE , 12 :e0182115 , 2017
Abstract :
PubMedSearch : Yeo_2017_PLoS.One_12_e0182115
PubMedID: 28753643
Gene_locus related to this paper: human-PLA2G7

Title : Association of Lp-PLA2 G994T gene polymorphism with risk of ischemic stroke in Chinese population - Ni_2017_J.Biochem.Mol.Toxicol_31_
Author(s) : Ni J , Gu H , Hu W , Zhou F , Zhu X , Wang K
Ref : J Biochem Mol Toxicol , 31 : , 2017
Abstract :
PubMedSearch : Ni_2017_J.Biochem.Mol.Toxicol_31_
PubMedID: 28960681
Gene_locus related to this paper: human-PLA2G7

Title : A phenome-wide association study of a lipoprotein-associated phospholipase A2 loss-of-function variant in 90 000 Chinese adults - Millwood_2016_Int.J.Epidemiol_45_1588
Author(s) : Millwood IY , Bennett DA , Walters RG , Clarke R , Waterworth D , Johnson T , Chen Y , Yang L , Guo Y , Bian Z , Hacker A , Yeo A , Parish S , Hill MR , Chissoe S , Peto R , Cardon L , Collins R , Li L , Chen Z
Ref : Int J Epidemiol , 45 :1588 , 2016
Abstract :
PubMedSearch : Millwood_2016_Int.J.Epidemiol_45_1588
PubMedID: 27301456
Gene_locus related to this paper: human-PLA2G7

Title : Val279Phe variant of Lp-PLA2 is a risk factor for a subpopulation of Indonesia patients with acute myocardial infarction - Cahyaningtias_2016_Genes.Dis_3_289
Author(s) : Cahyaningtias M , Rohman MS , Widodo , Wahjono Adi A , Yuda R , Indrayana Y , Putri JF , Rusdianto , Lukitasari M , Hendrawan D
Ref : Genes Dis , 3 :289 , 2016
Abstract :
PubMedSearch : Cahyaningtias_2016_Genes.Dis_3_289
PubMedID: 30258899
Gene_locus related to this paper: human-PLA2G7

Title : Naturally Occurring Missense Mutation in Plasma PAF-AH Among the Japanese Population - Karasawa_2015_Enzymes_38_117
Author(s) : Karasawa K
Ref : Enzymes , 38 :117 , 2015
Abstract :
PubMedSearch : Karasawa_2015_Enzymes_38_117
PubMedID: 26612650
Gene_locus related to this paper: human-PLA2G7

Title : Nonsynonymous polymorphisms in PLA2G7 gene are associated with the risk of coronary heart disease in a southern Chinese population - Hong_2015_Mamm.Genome_26_191
Author(s) : Hong M , Zhang M , Lu X
Ref : Mamm Genome , 26 :191 , 2015
Abstract :
PubMedSearch : Hong_2015_Mamm.Genome_26_191
PubMedID: 25690150
Gene_locus related to this paper: human-PLA2G7

Title : Carriage of the V279F null allele within the gene encoding Lp-PLA(2) is protective from coronary artery disease in South Korean males - Jang_2011_PLoS.One_6_e18208
Author(s) : Jang Y , Waterworth D , Lee JE , Song K , Kim S , Kim HS , Park KW , Cho HJ , Oh IY , Park JE , Lee BS , Ku HJ , Shin DJ , Lee JH , Jee SH , Han BG , Jang HY , Cho EY , Vallance P , Whittaker J , Cardon L , Mooser V
Ref : PLoS ONE , 6 :e18208 , 2011
Abstract :
PubMedSearch : Jang_2011_PLoS.One_6_e18208
PubMedID: 21490708
Gene_locus related to this paper: human-PLA2G7

Title : Lipoprotein-associated phospholipase A2 gene V279F polymorphisms and coronary heart disease: a meta-analysis - Zheng_2011_Mol.Biol.Rep_38_4089
Author(s) : Zheng GH , Chen HY , Xiong SQ , Chu JF
Ref : Mol Biol Rep , 38 :4089 , 2011
Abstract :
PubMedSearch : Zheng_2011_Mol.Biol.Rep_38_4089
PubMedID: 21107710
Gene_locus related to this paper: human-PLA2G7

Title : Identification of the G994T polymorphism in exon 9 of plasma platelet-activating factor acetylhydrolase gene as a risk factor for polycystic ovary syndrome - Fan_2010_Hum.Reprod_25_1288
Author(s) : Fan P , Liu Hw , Wang XS , Zhang F , Song Q , Li Q , Wu HM , Bai H
Ref : Hum Reprod , 25 :1288 , 2010
Abstract :
PubMedSearch : Fan_2010_Hum.Reprod_25_1288
PubMedID: 20185515
Gene_locus related to this paper: human-PLA2G7

Title : PLA2G7 gene polymorphisms and coronary heart disease risk: a meta-analysis - Wang_2010_Thromb.Res_126_498
Author(s) : Wang Q , Hao Y , Mo X , Wang L , Lu X , Huang J , Cao J , Li H , Gu D
Ref : Thromb Res , 126 :498 , 2010
Abstract :
PubMedSearch : Wang_2010_Thromb.Res_126_498
PubMedID: 20926117
Gene_locus related to this paper: human-PLA2G7

Title : Associations of PLA2G7 gene polymorphisms with plasma lipoprotein-associated phospholipase A2 activity and coronary heart disease in a Chinese Han population: the Beijing atherosclerosis study - Hou_2009_Hum.Genet_125_11
Author(s) : Hou L , Chen S , Yu H , Lu X , Chen J , Wang L , Huang J , Fan Z , Gu D
Ref : Hum Genet , 125 :11 , 2009
Abstract :
PubMedSearch : Hou_2009_Hum.Genet_125_11
PubMedID: 19034521
Gene_locus related to this paper: human-PLA2G7

Title : Effects of G994T in the Lp-PLA2 gene on the plasma oxidized LDL level and carotid intima-media thickness in Japanese: the Shimane study - Wang_2009_Am.J.Hypertens_22_742
Author(s) : Wang T , Karino K , Yamasaki M , Zhang Y , Masuda J , Yamaguchi S , Shiwaku K , Nabika T
Ref : Am J Hypertens , 22 :742 , 2009
Abstract :
PubMedSearch : Wang_2009_Am.J.Hypertens_22_742
PubMedID: 19373214
Gene_locus related to this paper: human-PLA2G7

Title : Comprehensive evaluation of genetic and environmental factors influencing the plasma lipoprotein-associated phospholipase A2 activity in a Japanese population - Zhang_2007_Hypertens.Res_30_403
Author(s) : Zhang SY , Shibata H , Karino K , Wang BY , Kobayashi S , Masuda J , Nabika T
Ref : Hypertens Res , 30 :403 , 2007
Abstract :
PubMedSearch : Zhang_2007_Hypertens.Res_30_403
PubMedID: 17587752
Gene_locus related to this paper: human-PLA2G7

Title : The Val279Phe variant of the lipoprotein-associated phospholipase A2 gene is associated with catalytic activities and cardiovascular disease in Korean men - Jang_2006_J.Clin.Endocrinol.Metab_91_3521
Author(s) : Jang Y , Kim OY , Koh SJ , Chae JS , Ko YG , Kim JY , Cho H , Jeong TS , Lee WS , Ordovas JM , Lee JH
Ref : J Clinical Endocrinology Metab , 91 :3521 , 2006
Abstract :
PubMedSearch : Jang_2006_J.Clin.Endocrinol.Metab_91_3521
PubMedID: 16787988
Gene_locus related to this paper: human-PLA2G7

Title : Platelet-activating factor-acetylhydrolase A379V (exon 11) gene polymorphism is an independent and functional risk factor for premature myocardial infarction - Liu_2006_J.Thromb.Haemost_4_1023
Author(s) : Liu PY , Li YH , Wu HL , Chao TH , Tsai LM , Lin LJ , Shi GY , Chen JH
Ref : J Thromb Haemost , 4 :1023 , 2006
Abstract :
PubMedSearch : Liu_2006_J.Thromb.Haemost_4_1023
PubMedID: 16689754
Gene_locus related to this paper: human-PLA2G7

Title : Association of platelet-activating factor acetylhydrolase gene polymorphism with premature coronary artery disease in Turkish patients - Sekuri_2006_Anadolu.Kardiyol.Derg_6_132
Author(s) : Sekuri C , Cam FS , Tengiz I , Ercan E , Bayturan O , Berdeli A
Ref : Anadolu Kardiyol Derg , 6 :132 , 2006
Abstract :
PubMedSearch : Sekuri_2006_Anadolu.Kardiyol.Derg_6_132
PubMedID: 16766276
Gene_locus related to this paper: human-PLA2G7

Title : Vasospastic angina and microvascular angina are differentially influenced by PON1 A632G polymorphism in the Japanese - Mashiba_2005_Circ.J_69_1466
Author(s) : Mashiba J , Koike G , Kamiunten H , Ikeda M , Sunagawa K
Ref : Circ J , 69 :1466 , 2005
Abstract :
PubMedSearch : Mashiba_2005_Circ.J_69_1466
PubMedID: 16308493
Gene_locus related to this paper: human-PLA2G7

Title : Association of plasma PAF acetylhydrolase gene polymorphism with IMT of carotid arteries in Japanese type 2 diabetic patients - Yamamoto_2003_Diabetes.Res.Clin.Pract_59_219
Author(s) : Yamamoto I , Fujitsu J , Nohnen S , Igarashi T , Motomura T , Inaba M , Tsubakimori S , Azuma J
Ref : Diabetes Res Clin Pract , 59 :219 , 2003
Abstract :
PubMedSearch : Yamamoto_2003_Diabetes.Res.Clin.Pract_59_219
PubMedID: 12590019
Gene_locus related to this paper: human-PLA2G7

Title : Evidence for the existence of the PAF acetylhydrolase mutation (Val279Phe) in non-Japanese populations: a preliminary study in Turkey, Azerbaijan, and Kyrgyzstan - Balta_2001_Thromb.Res_101_231
Author(s) : Balta G , Gurgey A , Kudayarov DK , Tunc B , Altay C
Ref : Thromb Res , 101 :231 , 2001
Abstract :
PubMedSearch : Balta_2001_Thromb.Res_101_231
PubMedID: 11248283
Gene_locus related to this paper: human-PLA2G7

Title : Platelet-activating factor acetylhydrolase gene mutation in Japanese children with Escherichia coli O157-associated hemolytic uremic syndrome - Xu_2000_Am.J.Kidney.Dis_36_42
Author(s) : Xu H , Iijima K , Shirakawa T , Shiozawa S , Miwa M , Yamaoka K , Kawamura N , Nakamura H , Yoshikawa N
Ref : Am J Kidney Dis , 36 :42 , 2000
Abstract :
PubMedSearch : Xu_2000_Am.J.Kidney.Dis_36_42
PubMedID: 10873870
Gene_locus related to this paper: human-PLA2G7

Title : Role of platelet-activating factor acetylhydrolase gene mutation in Japanese childhood IgA nephropathy - Tanaka_1999_Am.J.Kidney.Dis_34_289
Author(s) : Tanaka R , Iijima K , Xu H , Inoue Y , Murakami R , Shirakawa T , Nishiyama K , Miwa M , Shiozawa S , Nakamura H , Yoshikawa N
Ref : Am J Kidney Dis , 34 :289 , 1999
Abstract :
PubMedSearch : Tanaka_1999_Am.J.Kidney.Dis_34_289
PubMedID: 10430976
Gene_locus related to this paper: human-PLA2G7

Title : Deficiency of platelet-activating factor acetylhydrolase is a severity factor for asthma - Stafforini_1999_J.Clin.Invest_103_989
Author(s) : Stafforini DM , Numao T , Tsodikov A , Vaitkus D , Fukuda T , Watanabe N , Fueki N , McIntyre TM , Zimmerman GA , Makino S , Prescott SM
Ref : J Clinical Investigation , 103 :989 , 1999
Abstract :
PubMedSearch : Stafforini_1999_J.Clin.Invest_103_989
PubMedID: 10194471
Gene_locus related to this paper: human-PLA2G7

Title : Identification of the G994--> T missense in exon 9 of the plasma platelet-activating factor acetylhydrolase gene as an independent risk factor for coronary artery disease in Japanese men - Yamada_1998_Metabolism_47_177
Author(s) : Yamada Y , Ichihara S , Fujimura T , Yokota M
Ref : Metabolism , 47 :177 , 1998
Abstract :
PubMedSearch : Yamada_1998_Metabolism_47_177
PubMedID: 9472966
Gene_locus related to this paper: human-PLA2G7

Title : A mutation in plasma platelet-activating factor acetylhydrolase (Val279Phe) is a genetic risk factor for cerebral hemorrhage but not for hypertension - Yoshida_1998_Thromb.Haemost_80_372
Author(s) : Yoshida H , Imaizumi T , Fujimoto K , Itaya H , Hiramoto M , Yoshimizu N , Fukushi K , Satoh K
Ref : Thromb Haemost , 80 :372 , 1998
Abstract :
PubMedSearch : Yoshida_1998_Thromb.Haemost_80_372
PubMedID: 9759612
Gene_locus related to this paper: human-PLA2G7

Title : Platelet-activating factor acetylhydrolase gene mutation in Japanese nephrotic children - Xu_1998_Kidney.Int_54_1867
Author(s) : Xu H , Iijima K , Shiozawa S , Tanaka SS , Inoue Y , Shirakawa T , Nishiyama K , Miwa M , Nakamura H , Yoshikawa N
Ref : Kidney Int , 54 :1867 , 1998
Abstract :
PubMedSearch : Xu_1998_Kidney.Int_54_1867
PubMedID: 9853251
Gene_locus related to this paper: human-PLA2G7

Title : A mutation in plasma platelet-activating factor acetylhydrolase (Val279-->\;Phe) is a genetic risk factor for stroke - Hiramoto_1997_Stroke_28_2417
Author(s) : Hiramoto M , Yoshida H , Imaizumi T , Yoshimizu N , Satoh K
Ref : Stroke , 28 :2417 , 1997
Abstract :
PubMedSearch : Hiramoto_1997_Stroke_28_2417
PubMedID: 9412624
Gene_locus related to this paper: human-PLA2G7

Title : Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti-inflammatory phospholipase - Stafforini_1996_J.Clin.Invest_97_2784
Author(s) : Stafforini DM , Satoh K , Atkinson DL , Tjoelker LW , Eberhardt C , Yoshida H , Imaizumi T , Takamatsu S , Zimmerman GA , McIntyre TM , Gray PW , Prescott SM
Ref : J Clinical Investigation , 97 :2784 , 1996
Abstract :
PubMedSearch : Stafforini_1996_J.Clin.Invest_97_2784
PubMedID: 8675689
Gene_locus related to this paper: human-PLA2G7