Arginase I gene single-nucleotide polymorphism is associated with decreased risk of pulmonary hypertension in bronchopulmonary dysplasia.
Arginase I gene single-nucleotide polymorphism is associated with decreased risk of pulmonary hypertension in bronchopulmonary dysplasia.
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DOI：
10.1111/apa.12717
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发表时间：
2014-10
期刊：
影响因子：
--
通讯作者：
Klebanoff MA
中科院分区：
文献类型：
--
作者：
Trittmann JK;Nelin LD;Zmuda EJ;Gastier-Foster JM;Chen B;Backes CH;Frick J;Vaynshtok P;Vieland VJ;Klebanoff MA
目的：探讨新生儿支气管肺发育不良（BPD）肺动脉高压（PH）与L-精氨酸/一氧化氮通路基因单核苷酸多态性（SNPs）的关系。入组了患有BPD的新生儿（n = 140），并比较了病例组（BPD + PH）和对照组（BPD）的临床特征。从血液白细胞中分离DNA，并通过Sequenom massarray分析L-精氨酸/一氧化氮途径基因中的17个SNP。基因包括氨甲酰磷酸合成酶、鸟氨酸转氨甲酰酶、氨基琥珀酸合成酶、一氧化氮合成酶和谷胱甘肽转移酶。从国家生物技术信息中心数据库中选择SNP，以确定其推定功能。采用χ2检验和Logistic回归分析比较病例组和对照组的次要等位基因频率（MAF）。在140例BPD患者中，26%有PH的超声心动图证据。病例组的通气天数比对照组长（平均31天比15天，p < 0.05）。在17个SNPs中，rs 2781666在病例组（MAF = 0.23）比对照组（MAF = 0.37，p = 0.04）更不常见。在BPD患者中，对于每个拷贝的SNP次要等位基因，PH的几率降低了43%（p = 0.047）。精氨酸酶I SNP（rs 2781666）可能与BPD早产儿肺动脉高压的保护有关。
To test the hypothesis that there are single-nucleotide polymorphisms (SNPs) in genes of the l-arginine/nitric oxide pathway associated with pulmonary hypertension (PH) in neonates with bronchopulmonary dysplasia (BPD). Neonates with BPD were enrolled (n = 140) and clinical characteristics compared between case (BPD + PH) and control (BPD) groups. DNA was isolated from blood leucocytes and assayed for 17 SNPs in l-arginine/nitric oxide pathway genes by Sequenom massarray. Genes included carbamoyl-phosphate synthetase, ornithine transcarbamylase, argininosuccinate synthase, nitric oxide synthase and arginase. SNPs were selected from the National Center for Biotechnology Information database for their putative functionality. Calculated minor allele frequencies (MAF) of cases and controls were compared using χ2 and logistic regression. Of the 140 patients with BPD, 26% had echocardiographic evidence of PH. Ventilation days were longer for cases than controls (mean 31 vs. 15 days, p < 0.05). Of the 17 SNPs, rs2781666 in arginase I gene was less common in cases (MAF = 0.23) than controls (MAF = 0.37, p = 0.04). The odds of PH decreased by 43% (p = 0.047) for each copy of the SNP minor allele in arginase I gene in patients with BPD. Arginase I SNP (rs2781666) may be associated with protection against pulmonary hypertension in preterm neonates with BPD.
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影响因子：
14.2
作者：
Li, HL;Romieu, I;London, SJ
通讯作者：
London, SJ
影响因子：
3.9
作者：
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Haeberle, Johannes
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2.5
作者：
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3.6
作者：
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通讯作者：
DAWSON, CA
影响因子：
4
作者：
Dumont, Julie;Zureik, Mahmoud;Brousseau, Thierry
通讯作者：
Brousseau, Thierry