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

Alternative name(s) : Phospholipase A2 group VII deficiency, PLA2G7 deficiency, PAFAH deficiency, Platelet-activating factor acetylhydrolase deficiency

Gene_locus : human-PLA2G7

Mutation : 9 mutations V279F_human-PLA2G7 I198T_human-PLA2G7 A379V_human-PLA2G7 R92H_human-PLA2G7 K191N_human-PLA2G7 Q281R_human-PLA2G7 Y63X_human-PLA2G7 I317N_human-PLA2G7 D166E_human-PLA2G7

OMIM : 601690 , 600807 , 147050 , 614278

Comment

(from OMIM) Platelet-activating factor (PAF) is a biologically active phospholipid with diverse potent biologic effects. Stafforini et al. (1996) noted that PAF has been implicated as a mediator of physiologic processes, such as signaling and activation of proinflammatory cells, alteration of vascular permeability, and stimulation of glycogen metabolism among many others. In addition to its role as a physiologic mediator, PAF is associated with a pathology of several human diseases, particularly allergy and inflammation, affecting the respiratory, vascular, digestive, and reproductive systems.PAF is degraded to inactive products by hydrolysis of the acetyl group at the sn-2 position to produce the biologically inactive products LYSO-PAF and acetate. This reaction is catalyzed by PAF acetylhydrolase. Miwa et al. (1988) described an autosomal recessive form of PAF acetylhydrolase deficiency which has been observed only in Japanese. PAF acetylhydrolase activity was absent in 4\% of the Japanese population. Previously known loss-of-function mutations were not found but 3 common variants of the PAFAH gene were identified: arg92 to his (exon 4), ile198 to thr (exon 7), and ala379 to val (exon 11). The variant allele thr198 was found to be highly associated with total IgE concentrations in an atopic population and with 'asthma' in an asthmatic population. The variant allele val379 was found to be highly associated with 'specific sensitization' in the atopic population and with 'asthma' in the asthmatic population. There is an association between lipoprotein-associated phospholipase A2 gene polymorphism and coronary artery disease

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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
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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
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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
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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
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Title : The Ile198Thr and Ala379Val variants of plasmatic PAF-acetylhydrolase impair catalytical activities and are associated with atopy and asthma - Kruse_2000_Am.J.Hum.Genet_66_1522
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Gene_locus related to this paper: human-PLA2G7

Title : Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma - Ober_1998_Hum.Mol.Genet_7_1393
Author(s) : Ober C , Cox NJ , Abney M , Di Rienzo A , Lander ES , Changyaleket B , Gidley H , Kurtz B , Lee J , Nance M , Pettersson A , Prescott J , Richardson A , Schlenker E , Summerhill E , Willadsen S , Parry R
Ref : Hum Mol Genet , 7 :1393 , 1998
Abstract : Ober_1998_Hum.Mol.Genet_7_1393
ESTHER : Ober_1998_Hum.Mol.Genet_7_1393
PubMedSearch : Ober_1998_Hum.Mol.Genet_7_1393
PubMedID: 9700192
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 : Xu_1998_Kidney.Int_54_1867
ESTHER : Xu_1998_Kidney.Int_54_1867
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 : Hiramoto_1997_Stroke_28_2417
ESTHER : Hiramoto_1997_Stroke_28_2417
PubMedSearch : Hiramoto_1997_Stroke_28_2417
PubMedID: 9412624
Gene_locus related to this paper: human-PLA2G7

Title : Systematic screening of the LDL-PLA2 gene for polymorphic variants and case-control analysis in schizophrenia - Bell_1997_Biochem.Biophys.Res.Commun_241_630
Author(s) : Bell R , Collier DA , Rice SQ , Roberts GW , Macphee CH , Kerwin RW , Price J , Gloger IS
Ref : Biochemical & Biophysical Research Communications , 241 :630 , 1997
Abstract : Bell_1997_Biochem.Biophys.Res.Commun_241_630
ESTHER : Bell_1997_Biochem.Biophys.Res.Commun_241_630
PubMedSearch : Bell_1997_Biochem.Biophys.Res.Commun_241_630
PubMedID: 9434759
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 : Stafforini_1996_J.Clin.Invest_97_2784
ESTHER : Stafforini_1996_J.Clin.Invest_97_2784
PubMedSearch : Stafforini_1996_J.Clin.Invest_97_2784
PubMedID: 8675689
Gene_locus related to this paper: human-PLA2G7

Title : Genetics reveals importance of platelet activating factor in asthma and possibly other inflammatory states -
Author(s) : Nadel JA
Ref : J Clinical Investigation , 97 :2689 , 1996
PubMedID: 8675676
Gene_locus related to this paper: human-PLA2G7

Title : Anti-inflammatory properties of a platelet-activating factor acetylhydrolase - Tjoelker_1995_Nature_374_549
Author(s) : Tjoelker LW , Wilder C , Eberhardt C , Stafforini DM
Ref : Nature , 374 :549 , 1995
Abstract : Tjoelker_1995_Nature_374_549
ESTHER : Tjoelker_1995_Nature_374_549
PubMedSearch : Tjoelker_1995_Nature_374_549
PubMedID: 7700381
Gene_locus related to this paper: bovin-pafa , canfa-pafa , chick-pafa , human-PLA2G7 , mouse-pafa

Title : Characterization of serum platelet-activating factor (PAF) acetylhydrolase. Correlation between deficiency of serum PAF acetylhydrolase and respiratory symptoms in asthmatic children - Miwa_1988_J.Clin.Invest_82_1983
Author(s) : Miwa M , Miyake T , Yamanaka T , Sugatani J , Suzuki Y , Sakata S , Araki Y , Matsumoto M
Ref : J Clinical Investigation , 82 :1983 , 1988
Abstract : Miwa_1988_J.Clin.Invest_82_1983
ESTHER : Miwa_1988_J.Clin.Invest_82_1983
PubMedSearch : Miwa_1988_J.Clin.Invest_82_1983
PubMedID: 3198761
Gene_locus related to this paper: human-PLA2G7