Glutathione-S-transferase P1 may predispose children to a decline in pulmonary function after stem cell transplant.
Glutathione-S-transferase P1 may predispose children to a decline in pulmonary function after stem cell transplant.
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DOI：
10.1002/ppul.23678
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发表时间：
2017-07
影响因子：
3.1
通讯作者：
Davis S
中科院分区：
文献类型：
--
作者：
Stark J;Renbarger J;Slaven J;Yu Z;Then J;Skiles J;Davis S
造血干细胞移植（SCT）后肺部并发症与死亡率增加相关。SCT后肺损伤风险的遗传标记尚未得到广泛研究。49例患者是从一个单一的机构的生物储存库与相关的临床数据进行回顾性选择。所有受试者均进行了SCT前PFT。使用Infinium Exome-24 BeadChip进行基因分型。选择了4个单核苷酸多态性（SNP）（rs 1800871、rs 1695、rs 1800629、rs 12477314），并评价了其与PFT参数的相关性，即相对于基线随时间的变化。SNPs和PFT参数之间的关联进行了评估，并调整了以下混杂变量：年龄，性别和种族。使用隐性遗传模型，与祖先等位基因纯合的患者相比，具有谷胱甘肽S-转移酶P1（GSTP 1）SNP rs 1695的一个或两个次要等位基因的患者在SCT后一年的FEV 1和FEF 25 -75下降较低（校正p值分别<0.01和0.02）。没有其他SNP与其他PFT参数显著相关。我们的研究结果表明，GSTP 1基因型可能与SCT后第一年的肺功能相关。识别和研究SCT后易使患者发生肺部并发症的基因，可以基于先发制人的基因检测进行更个性化的患者管理。谷胱甘肽S-转移酶基因值得进一步研究。
Pulmonary complications after hematopoietic stem cell transplant (SCT) are associated with increased mortality. Genetic markers for those at risk for pulmonary impairment post-SCT have not been widely investigated. Forty-nine patients were retrospectively selected from a single institution’s biorepository with linked clinical data. All subjects performed pre-SCT PFTs. Genotyping was conducted using the Infinium Exome-24 BeadChip. Four single nucleotide polymorphisms (SNPs) were selected (rs1800871, rs1695, rs1800629, rs12477314) and evaluated for association with PFT parameters as change over time from baseline. Associations between SNPs and PFT parameters were assessed and adjusted for the following confounding variables: age, gender, and race. Using the recessive genetic model, patients with one or two minor alleles for the glutathione S-transferase P1 (GSTP1) SNP rs1695 had a lower decline in FEV1 and FEF25–75 at one-year post-SCT compared to patients who were homozygous for the ancestral allele (adjusted p-values <0.01 and 0.02, respectively). No other SNPs were significantly associated with other PFT parameters. Our findings suggest that GSTP1 genotype may be associated with lung function during the first year post-SCT. Identifying and investigating genes that predispose patients to pulmonary complications after SCT may allow for more personalized patient management based on pre-emptive genetic testing. The glutathione S-transferase gene merits further investigation.
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3-95 岁年龄范围的多种族肺活量测定参考值：2012 年全球肺功能方程。
DOI：
10.1183/09031936.00080312
发表时间：
2012-12
期刊：
The European respiratory journal
影响因子：
--
作者：
Quanjer PH;Stanojevic S;Cole TJ;Baur X;Hall GL;Culver BH;Enright PL;Hankinson JL;Ip MS;Zheng J;Stocks J;ERS Global Lung Function Initiative
通讯作者：
ERS Global Lung Function Initiative
影响因子：
3.1
作者：
Kim, Young-Jee;Hall, Graham L.;Eigen, Howard
通讯作者：
Eigen, Howard
影响因子：
4.8
作者：
Hauber, HP;Mikkilä, A;Pforte, A
通讯作者：
Pforte, A
影响因子：
6.2
作者：
Ziegler, TR;Panoskaltsus-Mortari, A;Blazar, BR
通讯作者：
Blazar, BR
影响因子：
6.1
作者：
Lee, YL;Lin, YC;Guo, YL
通讯作者：
Guo, YL