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血浆血小板活化因子乙酰水解酶基因中的单核苷酸多态性(G994→T)与股腘动脉旁路移植血管通畅情况相关。

Single nucleotide polymorphism (G994-->T) in the plasma platelet-activating factor-acetylhydrolase gene is associated with graft patency of femoropopliteal bypass.

作者信息

Unno Naoki, Nakamura Toshio, Mitsuoka Hiroshi, Saito Takaaki, Miki Keita, Ishimaru Kei, Sugatani Junko, Miwa Masao, Nakamura Satoshi

机构信息

Second Department of Surgery, Hamamatsu University School of Medicine, Japan.

出版信息

Surgery. 2002 Jul;132(1):66-71. doi: 10.1067/msy.2002.124931.

DOI:10.1067/msy.2002.124931
PMID:12110797
Abstract

BACKGROUND

Plasma platelet-activating factor-acetylhydrolase (PAF-AH) is known to catalyze platelet-activating factor (PAF). The single nucleotide polymorphism (SNP) of plasma PAF-AH gene (G994 -->T in exon 9) is associated with a decreased level of plasma PAF-AH activity. This study analyzed the risk of the SNP on graft occlusion of femoropopliteal bypass in patients with atherosclerotic occlusive disease.

METHODS

We retrospectively assessed the patency of 50 above-knee femoropopliteal bypass grafting in 50 patients. Genomic DNA was analyzed for the mutant allele. Plasma PAF-AH activity was measured by radioimmunoassay.

RESULTS

The 10-year cumulative primary patency of the bypass was 78.5% in GG (normal genotype) and 50.0% in GT (heterozygous) or TT (homozygous deficient) (P <.05, Kaplan-Meier method). The relative risk of graft failure in GT or TT genotypes was 1.68 (P =.08, Cox proportional hazards model). PAF-AH activity (nmol/min/50 microL) was 1.92 +/- 0.82 in patients with patent grafts and 1.42 +/- 0.47 in those with occluded grafts (mean +/- standard deviation; P <.05, unpaired t test).

CONCLUSIONS

The SNP of plasma PAF-AH was associated with a decreased primary graft patency of above-knee femoropopliteal bypass. The risk of graft failure may increase when patients have the SNP. To confirm the independent risk of graft failure by the SNP, further study is necessary and prospective study should be performed.

摘要

背景

血浆血小板活化因子乙酰水解酶(PAF-AH)可催化血小板活化因子(PAF)。血浆PAF-AH基因的单核苷酸多态性(SNP)(第9外显子G994→T)与血浆PAF-AH活性水平降低有关。本研究分析了该SNP对动脉粥样硬化闭塞性疾病患者股腘动脉搭桥移植血管闭塞风险的影响。

方法

我们回顾性评估了50例患者行50例膝上股腘动脉搭桥移植术的通畅情况。分析基因组DNA中的突变等位基因。采用放射免疫分析法测定血浆PAF-AH活性。

结果

GG(正常基因型)组搭桥的10年累积原发性通畅率为78.5%,GT(杂合子)或TT(纯合子缺陷)组为50.0%(P<.05,Kaplan-Meier法)。GT或TT基因型移植失败的相对风险为1.68(P=.08,Cox比例风险模型)。移植血管通畅患者的PAF-AH活性(nmol/min/50μL)为1.92±0.82,移植血管闭塞患者为1.42±0.47(均值±标准差;P<.05,非配对t检验)。

结论

血浆PAF-AH的SNP与膝上股腘动脉搭桥移植的原发性移植血管通畅率降低有关。患者存在该SNP时,移植失败的风险可能增加。为证实该SNP导致移植失败的独立风险,有必要进一步研究并开展前瞻性研究。

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Functional Consequences of Mutations and Polymorphisms in the Coding Region of the PAF Acetylhydrolase (PAF-AH) Gene.血小板活化因子乙酰水解酶(PAF-AH)基因编码区突变和多态性的功能后果
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