ABO c.29-5871T>C

Variant ID: 9-136143442-A-G

NM_020469.2(ABO):c.29-5871T>C

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation.

Nature Communications
Saarentaus, Elmo C EC; Karjalainen, Juha J; Rämö, Joel T JT; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Mehtonen, Juha J; Hautakangas, Heidi H; Ruotsalainen, Sanni S; Tamlander, Max M; Mars, Nina N; , ; Toppila-Salmi, Sanna S; Pirinen, Matti M; Kurki, Mitja M; Ripatti, Samuli S; Daly, Mark M; Palotie, Tuula T; Mäkitie, Antti A; Palotie, Aarno A
Publication Date: 2023-01-18

Variant appearance in text: rs612169
PubMed Link: 36653354
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_33626.pdf
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An assessment of the effect of the genotype on postoperative venous thromboembolism risk in 140,831 surgical patients.

Annals Of Medicine And Surgery (2012)
A Christensen, Mathias M; Bonde, Alexander A; Sillesen, Martin M
Publication Date: 2021-11

Variant appearance in text: rs612169
PubMed Link: 34777790
Variant Present in the following documents:
  • Main text
  • main.pdf
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Influence of ABO Locus on PFA-100 Collagen-ADP Closure Time Is Not Totally Dependent on the Von Willebrand Factor. Results of a GWAS on GAIT-2 Project Phenotypes.

International Journal Of Molecular Sciences
Pujol-Moix, Núria N; Martinez-Perez, Angel A; Sabater-Lleal, Maria M; Llobet, Dolors D; Vilalta, Noèlia N; Hamsten, Anders A; Souto, Joan Carles JC; Soria, José Manuel JM
Publication Date: 2019-06-30

Variant appearance in text: rs612169
PubMed Link: 31262040
Variant Present in the following documents:
  • Main text
  • ijms-20-03221.pdf
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Oxidized phospholipids regulate amino acid metabolism through MTHFD2 to facilitate nucleotide release in endothelial cells.

Nature Communications
Hitzel, Juliane J; Lee, Eunjee E; Zhang, Yi Y; Bibli, Sofia Iris SI; Li, Xiaogang X; Zukunft, Sven S; Pflüger, Beatrice B; Hu, Jiong J; Schürmann, Christoph C; Vasconez, Andrea Estefania AE; Oo, James A JA; Kratzer, Adelheid A; Kumar, Sandeep S; Rezende, Flávia F; Josipovic, Ivana I; Thomas, Dominique D; Giral, Hector H; Schreiber, Yannick Y; Geisslinger, Gerd G; Fork, Christian C; Yang, Xia X; Sigala, Fragiska F; Romanoski, Casey E CE; Kroll, Jens J; Jo, Hanjoong H; Landmesser, Ulf U; Lusis, Aldons J AJ; Namgaladze, Dmitry D; Fleming, Ingrid I; Leisegang, Matthias S MS; Zhu, Jun J; Brandes, Ralf P RP
Publication Date: 2018-06-12

Variant appearance in text: rs612169
PubMed Link: 29895827
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_4602.pdf
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Genetic Drivers of von Willebrand Factor Levels in an Ischemic Stroke Population and Association With Risk for Recurrent Stroke.

Stroke
Williams, Stephen R SR; Hsu, Fang-Chi FC; Keene, Keith L KL; Chen, Wei-Min WM; Dzhivhuho, Godfrey G; Rowles, Joe L JL; Southerland, Andrew M AM; Furie, Karen L KL; Rich, Stephen S SS; Worrall, Bradford B BB; Sale, Michèle M MM; ,
Publication Date: 2017-06

Variant appearance in text: rs612169
PubMed Link: 28495826
Variant Present in the following documents:
  • Main text
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Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study.

Bmj (Clinical Research Ed.)
Benn, Marianne M; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R; Tybjærg-Hansen, Anne A
Publication Date: 2017-04-24

Variant appearance in text: rs612169
PubMed Link: 28438747
Variant Present in the following documents:
  • benm033277.ww1.pdf
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Connecting genetic risk to disease end points through the human blood plasma proteome.

Nature Communications
Suhre, Karsten K; Arnold, Matthias M; Bhagwat, Aditya Mukund AM; Cotton, Richard J RJ; Engelke, Rudolf R; Raffler, Johannes J; Sarwath, Hina H; Thareja, Gaurav G; Wahl, Annika A; DeLisle, Robert Kirk RK; Gold, Larry L; Pezer, Marija M; Lauc, Gordan G; El-Din Selim, Mohammed A MA; Mook-Kanamori, Dennis O DO; Al-Dous, Eman K EK; Mohamoud, Yasmin A YA; Malek, Joel J; Strauch, Konstantin K; Grallert, Harald H; Peters, Annette A; Kastenmüller, Gabi G; Gieger, Christian C; Graumann, Johannes J
Publication Date: 2017-02-27

Variant appearance in text: rs612169
PubMed Link: 28240269
Variant Present in the following documents:
  • ncomms14357-s1.pdf
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Genome-Wide Association Study Identifies That the ABO Blood Group System Influences Interleukin-10 Levels and the Risk of Clinical Events in Patients with Acute Coronary Syndrome.

Plos One
Johansson, Åsa Å; Alfredsson, Jenny J; Eriksson, Niclas N; Wallentin, Lars L; Siegbahn, Agneta A
Publication Date: 2015

Variant appearance in text: rs612169
PubMed Link: 26600159
Variant Present in the following documents:
  • Main text
  • pone.0142518.pdf
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A GWAS Study on Liver Function Test Using eMERGE Network Participants.

Plos One
Namjou, Bahram B; Marsolo, Keith K; Lingren, Todd T; Ritchie, Marylyn D MD; Verma, Shefali S SS; Cobb, Beth L BL; Perry, Cassandra C; Kitchner, Terrie E TE; Brilliant, Murray H MH; Peissig, Peggy L PL; Borthwick, Kenneth M KM; Williams, Marc S MS; Grafton, Jane J; Jarvik, Gail P GP; Holm, Ingrid A IA; Harley, John B JB
Publication Date: 2015

Variant appearance in text: rs612169
PubMed Link: 26413716
Variant Present in the following documents:
  • Main text
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Dominance genetic variation contributes little to the missing heritability for human complex traits.

American Journal Of Human Genetics
Zhu, Zhihong Z; Bakshi, Andrew A; Vinkhuyzen, Anna A E AA; Hemani, Gibran G; Lee, Sang Hong SH; Nolte, Ilja M IM; van Vliet-Ostaptchouk, Jana V JV; Snieder, Harold H; , ; Esko, Tonu T; Milani, Lili L; Mägi, Reedik R; Metspalu, Andres A; Hill, William G WG; Weir, Bruce S BS; Goddard, Michael E ME; Visscher, Peter M PM; Yang, Jian J
Publication Date: 2015-03-05

Variant appearance in text: rs612169
PubMed Link: 25683123
Variant Present in the following documents:
  • Main text
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Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.

Nature Communications
Wessel, Jennifer J; Chu, Audrey Y AY; Willems, Sara M SM; Wang, Shuai S; Yaghootkar, Hanieh H; Brody, Jennifer A JA; Dauriz, Marco M; Hivert, Marie-France MF; Raghavan, Sridharan S; Lipovich, Leonard L; Hidalgo, Bertha B; Fox, Keolu K; Huffman, Jennifer E JE; An, Ping P; Lu, Yingchang Y; Rasmussen-Torvik, Laura J LJ; Grarup, Niels N; Ehm, Margaret G MG; Li, Li L; Baldridge, Abigail S AS; Stančáková, Alena A; Abrol, Ravinder R; Besse, Céline C; Boland, Anne A; Bork-Jensen, Jette J; Fornage, Myriam M; Freitag, Daniel F DF; Garcia, Melissa E ME; Guo, Xiuqing X; Hara, Kazuo K; Isaacs, Aaron A; Jakobsdottir, Johanna J; Lange, Leslie A LA; Layton, Jill C JC; Li, Man M; Hua Zhao, Jing J; Meidtner, Karina K; Morrison, Alanna C AC; Nalls, Mike A MA; Peters, Marjolein J MJ; Sabater-Lleal, Maria M; Schurmann, Claudia C; Silveira, Angela A; Smith, Albert V AV; Southam, Lorraine L; Stoiber, Marcus H MH; Strawbridge, Rona J RJ; Taylor, Kent D KD; Varga, Tibor V TV; Allin, Kristine H KH; Amin, Najaf N; Aponte, Jennifer L JL; Aung, Tin T; Barbieri, Caterina C; Bihlmeyer, Nathan A NA; Boehnke, Michael M; Bombieri, Cristina C; Bowden, Donald W DW; Burns, Sean M SM; Chen, Yuning Y; Chen, Yii-DerI YD; Cheng, Ching-Yu CY; Correa, Adolfo A; Czajkowski, Jacek J; Dehghan, Abbas A; Ehret, Georg B GB; Eiriksdottir, Gudny G; Escher, Stefan A SA; Farmaki, Aliki-Eleni AE; Frånberg, Mattias M; Gambaro, Giovanni G; Giulianini, Franco F; Goddard, William A WA; Goel, Anuj A; Gottesman, Omri O; Grove, Megan L ML; Gustafsson, Stefan S; Hai, Yang Y; Hallmans, Göran G; Heo, Jiyoung J; Hoffmann, Per P; Ikram, Mohammad K MK; Jensen, Richard A RA; Jørgensen, Marit E ME; Jørgensen, Torben T; Karaleftheri, Maria M; Khor, Chiea C CC; Kirkpatrick, Andrea A; Kraja, Aldi T AT; Kuusisto, Johanna J; Lange, Ethan M EM; Lee, I T IT; Lee, Wen-Jane WJ; Leong, Aaron A; Liao, Jiemin J; Liu, Chunyu C; Liu, Yongmei Y; Lindgren, Cecilia M CM; Linneberg, Allan A; Malerba, Giovanni G; Mamakou, Vasiliki V; Marouli, Eirini E; Maruthur, Nisa M NM; Matchan, Angela A; McKean-Cowdin, Roberta R; McLeod, Olga O; Metcalf, Ginger A GA; Mohlke, Karen L KL; Muzny, Donna M DM; Ntalla, Ioanna I; Palmer, Nicholette D ND; Pasko, Dorota D; Peter, Andreas A; Rayner, Nigel W NW; Renström, Frida F; Rice, Ken K; Sala, Cinzia F CF; Sennblad, Bengt B; Serafetinidis, Ioannis I; Smith, Jennifer A JA; Soranzo, Nicole N; Speliotes, Elizabeth K EK; Stahl, Eli A EA; Stirrups, Kathleen K; Tentolouris, Nikos N; Thanopoulou, Anastasia A; Torres, Mina M; Traglia, Michela M; Tsafantakis, Emmanouil E; Javad, Sundas S; Yanek, Lisa R LR; Zengini, Eleni E; Becker, Diane M DM; Bis, Joshua C JC; Brown, James B JB; Cupples, L Adrienne LA; Hansen, Torben T; Ingelsson, Erik E; Karter, Andrew J AJ; Lorenzo, Carlos C; Mathias, Rasika A RA; Norris, Jill M JM; Peloso, Gina M GM; Sheu, Wayne H-H WH; Toniolo, Daniela D; Vaidya, Dhananjay D; Varma, Rohit R; Wagenknecht, Lynne E LE; Boeing, Heiner H; Bottinger, Erwin P EP; Dedoussis, George G; Deloukas, Panos P; Ferrannini, Ele E; Franco, Oscar H OH; Franks, Paul W PW; Gibbs, Richard A RA; Gudnason, Vilmundur V; Hamsten, Anders A; Harris, Tamara B TB; Hattersley, Andrew T AT; Hayward, Caroline C; Hofman, Albert A; Jansson, Jan-Håkan JH; Langenberg, Claudia C; Launer, Lenore J LJ; Levy, Daniel D; Oostra, Ben A BA; O'Donnell, Christopher J CJ; O'Rahilly, Stephen S; Padmanabhan, Sandosh S; Pankow, James S JS; Polasek, Ozren O; Province, Michael A MA; Rich, Stephen S SS; Ridker, Paul M PM; Rudan, Igor I; Schulze, Matthias B MB; Smith, Blair H BH; Uitterlinden, André G AG; Walker, Mark M; Watkins, Hugh H; Wong, Tien Y TY; Zeggini, Eleftheria E; , ; Laakso, Markku M; Borecki, Ingrid B IB; Chasman, Daniel I DI; Pedersen, Oluf O; Psaty, Bruce M BM; Tai, E Shyong ES; van Duijn, Cornelia M CM; Wareham, Nicholas J NJ; Waterworth, Dawn M DM; Boerwinkle, Eric E; Kao, W H Linda WH; Florez, Jose C JC; Loos, Ruth J F RJ; Wilson, James G JG; Frayling, Timothy M TM; Siscovick, David S DS; Dupuis, Josée J; Rotter, Jerome I JI; Meigs, James B JB; Scott, Robert A RA; Goodarzi, Mark O MO
Publication Date: 2015-01-29

Variant appearance in text: rs612169
PubMed Link: 25631608
Variant Present in the following documents:
  • ncomms6897-s1.pdf
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Single nucleotide polymorphisms with cis-regulatory effects on long non-coding transcripts in human primary monocytes.

Plos One
Almlöf, Jonas Carlsson JC; Lundmark, Per P; Lundmark, Anders A; Ge, Bing B; Pastinen, Tomi T; , ; Goodall, Alison H AH; Cambien, François F; Deloukas, Panos P; Ouwehand, Willem H WH; Syvänen, Ann-Christine AC
Publication Date: 2014

Variant appearance in text: rs612169
PubMed Link: 25025429
Variant Present in the following documents:
  • Main text
  • pone.0102612.pdf
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ABO Blood Groups and Cardiovascular Diseases.

International Journal Of Vascular Medicine
Zhang, Hanrui H; Mooney, Ciarán J CJ; Reilly, Muredach P MP
Publication Date: 2012

Variant appearance in text: rs612169
PubMed Link: 23133757
Variant Present in the following documents:
  • Main text
  • IJVM2012-641917.pdf
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Human metabolic individuality in biomedical and pharmaceutical research.

Nature
Suhre, Karsten K; Shin, So-Youn SY; Petersen, Ann-Kristin AK; Mohney, Robert P RP; Meredith, David D; Wägele, Brigitte B; Altmaier, Elisabeth E; , ; Deloukas, Panos P; Erdmann, Jeanette J; Grundberg, Elin E; Hammond, Christopher J CJ; de Angelis, Martin Hrabé MH; Kastenmüller, Gabi G; Köttgen, Anna A; Kronenberg, Florian F; Mangino, Massimo M; Meisinger, Christa C; Meitinger, Thomas T; Mewes, Hans-Werner HW; Milburn, Michael V MV; Prehn, Cornelia C; Raffler, Johannes J; Ried, Janina S JS; Römisch-Margl, Werner W; Samani, Nilesh J NJ; Small, Kerrin S KS; Wichmann, H-Erich HE; Zhai, Guangju G; Illig, Thomas T; Spector, Tim D TD; Adamski, Jerzy J; Soranzo, Nicole N; Gieger, Christian C
Publication Date: 2011-08-31

Variant appearance in text: rs612169
PubMed Link: 21886157
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome partitioning of genetic variation for complex traits using common SNPs.

Nature Genetics
Yang, Jian J; Manolio, Teri A TA; Pasquale, Louis R LR; Boerwinkle, Eric E; Caporaso, Neil N; Cunningham, Julie M JM; de Andrade, Mariza M; Feenstra, Bjarke B; Feingold, Eleanor E; Hayes, M Geoffrey MG; Hill, William G WG; Landi, Maria Teresa MT; Alonso, Alvaro A; Lettre, Guillaume G; Lin, Peng P; Ling, Hua H; Lowe, William W; Mathias, Rasika A RA; Melbye, Mads M; Pugh, Elizabeth E; Cornelis, Marilyn C MC; Weir, Bruce S BS; Goddard, Michael E ME; Visscher, Peter M PM
Publication Date: 2011-06

Variant appearance in text: rs612169
PubMed Link: 21552263
Variant Present in the following documents:
  • Main text
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Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.

Lancet (London, England)
Reilly, Muredach P MP; Li, Mingyao M; He, Jing J; Ferguson, Jane F JF; Stylianou, Ioannis M IM; Mehta, Nehal N NN; Burnett, Mary Susan MS; Devaney, Joseph M JM; Knouff, Christopher W CW; Thompson, John R JR; Horne, Benjamin D BD; Stewart, Alexandre F R AF; Assimes, Themistocles L TL; Wild, Philipp S PS; Allayee, Hooman H; Nitschke, Patrick Linsel PL; Patel, Riyaz S RS; , ; , ; Martinelli, Nicola N; Girelli, Domenico D; Quyyumi, Arshed A AA; Anderson, Jeffrey L JL; Erdmann, Jeanette J; Hall, Alistair S AS; Schunkert, Heribert H; Quertermous, Thomas T; Blankenberg, Stefan S; Hazen, Stanley L SL; Roberts, Robert R; Kathiresan, Sekar S; Samani, Nilesh J NJ; Epstein, Stephen E SE; Rader, Daniel J DJ
Publication Date: 2011-01-29

Variant appearance in text: rs612169
PubMed Link: 21239051
Variant Present in the following documents:
  • Main text
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Genetic variants in ABO blood group region, plasma soluble E-selectin levels and risk of type 2 diabetes.

Human Molecular Genetics
Qi, Lu L; Cornelis, Marilyn C MC; Kraft, Peter P; Jensen, Majken M; van Dam, Rob M RM; Sun, Qi Q; Girman, Cynthia J CJ; Laurie, Cathy C CC; Mirel, Daniel B DB; Hunter, David J DJ; Rimm, Eric E; Hu, Frank B FB
Publication Date: 2010-05-01

Variant appearance in text: rs612169
PubMed Link: 20147318
Variant Present in the following documents:
  • Main text
View BVdb publication page