Detection of Putative Functional Single Nucleotide Polymorphisms in Blood Pressure Loci and Validation of Association Between Single Nucleotide Polymorphism in WBP1L and Hypertension in the Chinese Han Population
Detection of Putative Functional Single Nucleotide Polymorphisms in Blood Pressure Loci and Validation of Association Between Single Nucleotide Polymorphism in WBP1L and Hypertension in the Chinese Han Population
复制标题
中国汉族人群血压位点推定功能性单核苷酸多态性的检测及WBP1L单核苷酸多态性与高血压关联的验证
DOI：
10.1097/fjc.0000000000000633
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发表时间：
2019-01
期刊：
影响因子：
--
通讯作者：
Yonghong Zhang
中科院分区：
文献类型：
--
作者：
Huan Zhang;Xingbo Mo;Zhengyuan Zhou;Zhengbao Zhu;Xingfeng HuangFu;Zhirong Guo;Yonghong Zhang
摘要：我们进行了一项基于基因的关联研究，发现了几个重要的血压相关基因。在这项研究中，我们通过生物信息学分析探索了这些基因的功能变异，并通过857例病例和927例对照的公开数据和我们的内部数据验证了功能单核苷酸多态性（snp）与高血压之间的关联。我们在bp相关基因中发现了各种功能变异，包括错义突变和磷酸化相关的snp。这些snp大多与局部基因的表达有关。其中一些snp与冠状动脉疾病或缺血性中风有关。7个基因的12个功能snp与BP之间存在相关性（P < 5 × 10−7）。内含子SNP rs176185可能影响启动子组蛋白、增强子组蛋白、dna酶和调控基序，对WBP1L具有顺式eqtl效应，与中国汉族人群高血压相关（P = 0.0119）。我们的研究在bp相关基因中发现了大量潜在的功能snp，并证明rs176185可能与中国汉族人群的高血压有关。
Abstract: We have performed a gene-based association study and detected several important blood pressure (BP)-associated genes. In this study, we explored functional variants in these genes by bioinformatics analysis and validated the associations between the functional single nucleotide polymorphisms (SNPs) and hypertension with public data and our in-house data of 857 cases and 927 controls. We found various functional variants in the BP-associated genes, including missense mutations and phosphorylation-related SNPs. Most of these SNPs were associated with expressions of the local genes. Some of these SNPs were associated with coronary artery disease or ischemic stroke. The associations between 12 functional SNPs in 7 genes and BP were validated (P < 5 × 10−7). The intronic SNP rs176185, which may influence promoter histone, enhancer histone, DNase and regulatory motifs and showed cis-eQTL effect on WBP1L, was associated with hypertension in the Chinese Han population (P = 0.0119). Our study detected plenty of potential functional SNPs in the BP-associated genes and demonstrated that rs176185 may be associated with hypertension in the Chinese Han population.
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影响因子：
30.8
作者：
Liu C;Kraja AT;Smith JA;Brody JA;Franceschini N;Bis JC;Rice K;Morrison AC;Lu Y;Weiss S;Guo X;Palmas W;Martin LW;Chen YD;Surendran P;Drenos F;Cook JP;Auer PL;Chu AY;Giri A;Zhao W;Jakobsdottir J;Lin LA;Stafford JM;Amin N;Mei H;Yao J;Voorman A;CHD Exome+ Consortium;ExomeBP Consortium;GoT2DGenes Consortium;T2D-GENES Consortium;Larson MG;Grove ML;Smith AV;Hwang SJ;Chen H;Huan T;Kosova G;Stitziel NO;Kathiresan S;Samani N;Schunkert H;Deloukas P;Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia;Li M;Fuchsberger C;Pattaro C;Gorski M;CKDGen Consortium;Kooperberg C;Papanicolaou GJ;Rossouw JE;Faul JD;Kardia SL;Bouchard C;Raffel LJ;Uitterlinden AG;Franco OH;Vasan RS;O'Donnell CJ;Taylor KD;Liu K;Bottinger EP;Gottesman O;Daw EW;Giulianini F;Ganesh S;Salfati E;Harris TB;Launer LJ;Dörr M;Felix SB;Rettig R;Völzke H;Kim E;Lee WJ;Lee IT;Sheu WH;Tsosie KS;Edwards DR;Liu Y;Correa A;Weir DR;Völker U;Ridker PM;Boerwinkle E;Gudnason V;Reiner AP;van Duijn CM;Borecki IB;Edwards TL;Chakravarti A;Rotter JI;Psaty BM;Loos RJ;Fornage M;Ehret GB;Newton-Cheh C;Levy D;Chasman DI
通讯作者：
Chasman DI
影响因子：
30.8
作者：
Ripke, Stephan;O'Dushlaine, Colm;Chambert, Kimberly;Moran, Jennifer L.;Kaehler, Anna K.;Akterin, Susanne;Bergen, Sarah E.;Collins, Ann L.;Crowley, James J.;Fromer, Menachem;Kim, Yunjung;Lee, Sang Hong;Magnusson, Patrik K. E.;Sanchez, Nick;Stahl, Eli A.;Williams, Stephanie;Wray, Naomi R.;Xia, Kai;Bettella, Francesco;Borglum, Anders D.;Bulik-Sullivan, Brendan K.;Cormican, Paul;Craddock, Nick;de Leeuw, Christiaan;Durmishi, Naser;Gill, Michael;Golimbet, Vera;Hamshere, Marian L.;Holmans, Peter;Hougaard, David M.;Kendler, Kenneth S.;Lin, Kuang;Morris, Derek W.;Mors, Ole;Mortensen, Preben B.;Neale, Benjamin M.;O'Neill, Francis A.;Owen, Michael J.;Milovancevic, Milica Pejovic;Posthuma, Danielle;Powell, John;Richards, Alexander L.;Riley, Brien P.;Ruderfer, Douglas;Rujescu, Dan;Sigurdsson, Engilbert;Silagadze, Teimuraz;Smit, August B.;Stefansson, Hreinn;Steinberg, Stacy;Suvisaari, Jaana;Tosato, Sarah;Verhage, Matthijs;Walters, James T.;Bramon, Elvira;Corvin, Aiden P.;O'Donovan, Michael C.;Stefansson, Kari;Scolnick, Edward;Purcell, Shaun;McCarroll, Steven A.;Sklar, Pamela;Hultman, Christina M.;Sullivan, Patrick F.
通讯作者：
Sullivan, Patrick F.
影响因子：
64.8
作者：
通讯作者：
--
DOI：
10.1016/b978-0-12-818460-8.00021-6
发表时间：
2020
期刊：
Present Knowledge in Nutrition
影响因子：
--
作者：
T. Sanders
通讯作者：
T. Sanders
影响因子：
11.2
作者：
Traylor M;Malik R;Nalls MA;Cotlarciuc I;Radmanesh F;Thorleifsson G;Hanscombe KB;Langefeld C;Saleheen D;Rost NS;Yet I;Spector TD;Bell JT;Hannon E;Mill J;Chauhan G;Debette S;Bis JC;Longstreth WT Jr;Ikram MA;Launer LJ;Seshadri S;METASTROKE, UK Young Lacunar DNA Study, NINDS Stroke Genetics Network, Neurology Working Group of the CHARGE Consortium;Hamilton-Bruce MA;Jimenez-Conde J;Cole JW;Schmidt R;Słowik A;Lemmens R;Lindgren A;Melander O;Grewal RP;Sacco RL;Rundek T;Rexrode K;Arnett DK;Johnson JA;Benavente OR;Wasssertheil-Smoller S;Lee JM;Pulit SL;Wong Q;Rich SS;de Bakker PI;McArdle PF;Woo D;Anderson CD;Xu H;Heitsch L;Fornage M;Jern C;Stefansson K;Thorsteinsdottir U;Gretarsdottir S;Lewis CM;Sharma P;Sudlow CL;Rothwell PM;Boncoraglio GB;Thijs V;Levi C;Meschia JF;Rosand J;Kittner SJ;Mitchell BD;Dichgans M;Worrall BB;Markus HS;International Stroke Genetics Consortium
通讯作者：
International Stroke Genetics Consortium