Pathway analysis of smoking quantity in multiple GWAS identifies cholinergic and sensory pathways.
Pathway analysis of smoking quantity in multiple GWAS identifies cholinergic and sensory pathways.
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DOI：
10.1371/journal.pone.0050913
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发表时间：
2012
期刊：
影响因子：
3.7
通讯作者：
Goate AM
中科院分区：
文献类型：
--
作者：
Harari O;Wang JC;Bucholz K;Edenberg HJ;Heath A;Martin NG;Pergadia ML;Montgomery G;Schrage A;Bierut LJ;Madden PF;Goate AM
吸烟是一种常见的上瘾，会增加许多疾病的风险，包括肺癌和慢性阻塞性肺病。全基因组关联研究已经成功地识别和验证了几个尼古丁消耗和依赖的易感基因。然而，这些基因解释的性状差异只是估计的遗传风险的一小部分。在因果变异存在于功能相关基因的假设下，通路分析通过将生物学知识纳入GWAS的评估中来补充单标记方法，从而能够评估广泛的信号范围。我们识别与吸烟量相关的多个基因丰富的途径的方法包括分析两项研究和在第三个数据集中重复共同的发现。这项研究确定了胆碱能受体的途径，其中包括已知的全基因组意义上的SNP；以及新的途径，如参与嗅觉感知的基因，这些途径不包含任何达到这一严格阈值的SNP。
Cigarette smoking is a common addiction that increases the risk for many diseases, including lung cancer and chronic obstructive pulmonary disease. Genome-wide association studies (GWAS) have successfully identified and validated several susceptibility loci for nicotine consumption and dependence. However, the trait variance explained by these genes is only a small fraction of the estimated genetic risk. Pathway analysis complements single marker methods by including biological knowledge into the evaluation of GWAS, under the assumption that causal variants lie in functionally related genes, enabling the evaluation of a broad range of signals. Our approach to the identification of pathways enriched for multiple genes associated with smoking quantity includes the analysis of two studies and the replication of common findings in a third dataset. This study identified pathways for the cholinergic receptors, which included SNPs known to be genome-wide significant; as well as novel pathways, such as genes involved in the sensory perception of smell, that do not contain any single SNP that achieves that stringent threshold.
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影响因子：
2.6
作者：
Bloom J;Hinrichs AL;Wang JC;von Weymarn LB;Kharasch ED;Bierut LJ;Goate A;Murphy SE
通讯作者：
Murphy SE
影响因子：
11
作者：
Malaiyandi, V;Lerman, C;Tyndale, RF
通讯作者：
Tyndale, RF
影响因子：
3.7
作者：
Jones L;Holmans PA;Hamshere ML;Harold D;Moskvina V;Ivanov D;Pocklington A;Abraham R;Hollingworth P;Sims R;Gerrish A;Pahwa JS;Jones N;Stretton A;Morgan AR;Lovestone S;Powell J;Proitsi P;Lupton MK;Brayne C;Rubinsztein DC;Gill M;Lawlor B;Lynch A;Morgan K;Brown KS;Passmore PA;Craig D;McGuinness B;Todd S;Holmes C;Mann D;Smith AD;Love S;Kehoe PG;Mead S;Fox N;Rossor M;Collinge J;Maier W;Jessen F;Schürmann B;Heun R;Kölsch H;van den Bussche H;Heuser I;Peters O;Kornhuber J;Wiltfang J;Dichgans M;Frölich L;Hampel H;Hüll M;Rujescu D;Goate AM;Kauwe JS;Cruchaga C;Nowotny P;Morris JC;Mayo K;Livingston G;Bass NJ;Gurling H;McQuillin A;Gwilliam R;Deloukas P;Al-Chalabi A;Shaw CE;Singleton AB;Guerreiro R;Mühleisen TW;Nöthen MM;Moebus S;Jöckel KH;Klopp N;Wichmann HE;Rüther E;Carrasquillo MM;Pankratz VS;Younkin SG;Hardy J;O'Donovan MC;Owen MJ;Williams J
通讯作者：
Williams J
影响因子：
1.8
作者：
Gui H;Li M;Sham PC;Cherny SS
通讯作者：
Cherny SS
DOI：
10.1002/ajmg.b.30436
发表时间：
2006-12-05
影响因子：
2.8
作者：
Liu, Qing-Rong;Drgon, Tomas;Uhl, George R.
通讯作者：
Uhl, George R.