Association between platelet-activating factor acetylhydrolase gene polymorphisms and gastrointestinal bleeding in children with Henoch-Schönlein purpura
WANG Bao-Xiang1, MEI Hong1, PENG Han-Ming1, GAO Yuan1, DING Yan2
Department of Gastroenterology, Wuhan Children's Hospital, Wuhan 430016, China
Abstract Objective To study the association between the single nucleotide polymorphisms (SNPs) of the ninth exon Val279Phe of platelet-activating factor acetylhydrolase (PAF-AH) gene and gastrointestinal bleeding in children with Henoch-Schönlein purpura (HSP). Methods A total 516 children with HSP were enrolled, among whom 182 had gastrointestinal bleeding and 334 had no gastrointestinal bleeding. PCR was used to investigate the distribution of genotypes and alleles in the SNPs of Val97Phe. The plasma PAF-AH activity was measured, as well as the levels of platelet-activating factor (PAF), granular membrane protein-140 (GMP-140), β-thromboglobulin (β-TG), and platelet factor 4 (PF4). Results The Val279Phe genotype and allele frequencies were in Hardy-Weinberg equilibrium, and the homozygous genotype TT and heterozygotes accounted for 0.97% and 6.05% respectively. The gastrointestinal bleeding group had a significantly higher allele frequency than the control group (5.22% vs 3.33%; P < 0.01). The HSP patients with GG genotype in the gastrointestinal bleeding group had significantly higher levels of plasma PAF and GMP-140 than those in the non-gastrointestinal bleeding group (P < 0.05), while the non-gastrointestinal bleeding group had a significantly higher PAF-AH activity than the gastrointestinal bleeding group (P < 0.05). There were no significant differences in β-TG and PF4 between the two groups (P > 0.05). Conclusions Val279Phe gene polymorphisms in PAF-AH are associated with PAF-AH activity and PAF and GMP-140 levels and may be a risk factor for HSP with gastrointestinal bleeding.
WANG Bao-Xiang,MEI Hong,PENG Han-Ming et al. Association between platelet-activating factor acetylhydrolase gene polymorphisms and gastrointestinal bleeding in children with Henoch-Schönlein purpura[J]. CJCP, 2017, 19(4): 385-388.
WANG Bao-Xiang,MEI Hong,PENG Han-Ming et al. Association between platelet-activating factor acetylhydrolase gene polymorphisms and gastrointestinal bleeding in children with Henoch-Schönlein purpura[J]. CJCP, 2017, 19(4): 385-388.
Ozen S, Ruperto N, Dillon MJ, et al. EULAR/PReS endorsed consensus criteria for the classification of childhood vasculitides[J]. Ann Rheum Dis, 2006, 65(7):936-941.
[5]
Verouti SN, Fragopoulou E, Karantonis HC, et a1. PAF effects on MCP-1 and IL-6 secretion in U-937 monocytes in comparison with oxLDL and IL-1β effects[J]. Atherosclerosis, 2011, 219(2):519-525.
[6]
Xu LF, Teng X, Guo J, et al. Protective effect of intestinal trefoil factor on injury of intestinal epithelial tight junction induced by platelet activating factor[J]. Inflammation, 2012, 35(1):308-315.
[7]
Mazereeuw G, Herrmann N, Xu H, et al. Platelet activating factors are associated with depressive symptoms in coronary artery disease patients:a hypothesis-generating study[J]. Neuropsychiatr Dis Treat, 2015, 11:2309-2314.
[8]
Muehlmann LA, Michelotto PV Jr, Nunes EA, et al. PAF increases phagocytic capacity and supemxide anion production in equine alveolar macrophagesand blood neutrophils[J]. Res Vet Sci, 2012, 93(1):393-397.
[9]
Karasawa K. Clinical aspects of plasma platelet-activating factor-acetylhydrolase[J]. Biochim Biophys Acta, 2006, 1761(11):1359-1372.
[10]
Kruse S, Mao XQ, Heinzmann A, et al. The Ile198Thr and Ala379Val variants of plasmatic PAF-acetylhydrolase impair catalytical activities and are associated with atopy and asthma[J]. Am J Hum Genet, 2000, 66(5):1522-1530.
[11]
Stafforini DM, Satoh K, Atkinson DL, et al. Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti-inflammatory phospholipase[J]. J Clin lnvest, 1996, 97(12):2784-2791.
[12]
Perelman B, Adil A, Vadas P. Relationship between platelet activating factor acetylhydrolase activity and apolipoprotein B levels in patients with peanut allergy[J]. Allergy Asthma Clin Immunol, 2014, 10(1):20.
[13]
Fan P, Liu HW, Wang XS, et al. Identification of the G994T polymorphism in exon 9 of plasma platelet-activating factor acetylhydrolase gene as a risk factor for polycystic ovary syndrome[J]. Hum Reprod, 2010, 25(5):1288-1294.
