DNA pooling base genome-wide association study identifies variants at NRXN3 associated with delayed encephalopathy after acute carbon monoxide poisoning.
DNA pooling base genome-wide association study identifies variants at NRXN3 associated with delayed encephalopathy after acute carbon monoxide poisoning.
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DOI：
10.1371/journal.pone.0079159
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Zhang H
中科院分区：
文献类型：
--
作者：
Li W;Zhang Y;Gu R;Zhang P;Liang F;Gu J;Zhang X;Zhang H;Zhang H
急性一氧化碳中毒后迟发性脑病(DEACMP)比其他类型的缺氧性脑病更具特点。那些中毒程度相同、年龄和性别相似的人患DEACMP的风险更大。这清楚地表明，两人之间存在明显的个人差异。遗传因素可能起着非常重要的作用。作者进行了一项全基因组关联研究，汇集了175名患者和244名匹配的急性一氧化碳中毒患者的DNA，没有迟发性脑病对照。Illumina HumanHap 660芯片阵列用于DNA池。比较急性一氧化碳中毒迟发性脑病患者和对照组的等位基因频率，并进行排序。共有123个SNPs给出了OR>；1.4。在这些基因中，46个被定位在已知基因上或接近于已知基因。在合并DNA的全基因组关联中，经过5%的FDR校正后，位于19个基因的48个SNP与DEACMP相关。在所有样本中选择位于neureox3基因的两个SNPs(rs11845632和rs2196447)进行个体基因分型，另一个队列由234和271名对照组成。DEACMP组rs11845632和rs2196447的基因频率和等位基因频率与对照组比较差异均有统计学意义(均P<0.05)。本研究描述了在中国汉族人中Neurexin3与对照之间的正相关关系，并提供了支持DEACMP易感性的遗传学证据，这可能是环境和遗传因素交互作用的结果。
Delayed encephalopathy after acute carbon monoxide poisoning (DEACMP) is more characteristic of anoxic encephalopathy than of other types of anoxia. Those who have the same poisoning degree and are of similar age and gender have a greater risk of getting DEACMP. This has made it clear that there are obvious personal differences. Genetic factors may play a very important role. The authors performed a genome-wide association study involving pooling of DNA obtained from 175 patients and 244 matched acute carbon monoxide poisoning without delayed encephalopathy controls. The Illumina HumanHap 660 Chip array was used for DNA pools. Allele frequencies of all SNPs were compared between delayed encephalopathy after acute carbon monoxide poisoning and control groups and ranked. A total of 123 SNPs gave an OR >1.4. Of these, 46 mapped in or close to known genes. Forty-eight SNPs located in 19 genes were associated with DEACMP after correction for 5% FDR in the genome-wide association of pooled DNA. Two SNPs (rs11845632 and rs2196447) locate in the Neurexin 3 gene were selected for individual genotyping in all samples and another cohort consisted of 234 and 271 controls. There were significant differences in the genotype and allele frequencies of rs11845632 and rs2196447 between the DEACMP group and controls group (all P-values <0.05). This study describes a positive association between Neurexin 3 and controls in the Han Chinese population, and provides genetic evidence to support the susceptibility of DEACMP, which may be the resulting interaction of environmental and genetic factors.
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影响因子：
4.5
作者：
Heard-Costa NL;Zillikens MC;Monda KL;Johansson A;Harris TB;Fu M;Haritunians T;Feitosa MF;Aspelund T;Eiriksdottir G;Garcia M;Launer LJ;Smith AV;Mitchell BD;McArdle PF;Shuldiner AR;Bielinski SJ;Boerwinkle E;Brancati F;Demerath EW;Pankow JS;Arnold AM;Chen YD;Glazer NL;McKnight B;Psaty BM;Rotter JI;Amin N;Campbell H;Gyllensten U;Pattaro C;Pramstaller PP;Rudan I;Struchalin M;Vitart V;Gao X;Kraja A;Province MA;Zhang Q;Atwood LD;Dupuis J;Hirschhorn JN;Jaquish CE;O'Donnell CJ;Vasan RS;White CC;Aulchenko YS;Estrada K;Hofman A;Rivadeneira F;Uitterlinden AG;Witteman JC;Oostra BA;Kaplan RC;Gudnason V;O'Connell JR;Borecki IB;van Duijn CM;Cupples LA;Fox CS;North KE
通讯作者：
North KE
影响因子：
4.7
作者：
Galvan, Antonella;Falvella, Felicia S.;Dragani, Tommaso A.
通讯作者：
Dragani, Tommaso A.
影响因子：
3.6
作者：
Diergaarde, Brenda;Brand, Randall;Whitcomb, David C.
通讯作者：
Whitcomb, David C.
影响因子：
3.5
作者：
Lachman, Herbert M.;Fann, Cathy S. J.;Knowles, James A.
通讯作者：
Knowles, James A.
影响因子：
5.2
作者：
Krumbiegel, Mandy;Pasutto, Francesca;Reis, Andre
通讯作者：
Reis, Andre