Publications:

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Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.

Nature Genetics

Schlosser, Pascal P; Scherer, Nora N; Grundner-Culemann, Franziska F; Monteiro-Martins, Sara S; Haug, Stefan S; Steinbrenner, Inga I; Uluvar, Burulça B; Wuttke, Matthias M; Cheng, Yurong Y; Ekici, Arif B AB; Gyimesi, Gergely G; Karoly, Edward D ED; Kotsis, Fruzsina F; Mielke, Johanna J; Gomez, Maria F MF; Yu, Bing B; Grams, Morgan E ME; Coresh, Josef J; Boerwinkle, Eric E; Köttgen, Michael M; Kronenberg, Florian F; Meiselbach, Heike H; Mohney, Robert P RP; Akilesh, Shreeram S; , ; Schmidts, Miriam M; Hediger, Matthias A MA; Schultheiss, Ulla T UT; Eckardt, Kai-Uwe KU; Oefner, Peter J PJ; Sekula, Peggy P; Li, Yong Y; Köttgen, Anna A

Publication Date: 2023-06-05

Variant appearance in text: rs174554

PubMed Link: 37277652

Variant Present in the following documents:

• 41588_2023_1409_MOESM4_ESM.pdf

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: rs174554

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs174554

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs174554

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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Ethnic disparities attributed to the manifestation in and response to type 2 diabetes: insights from metabolomics.

Metabolomics : Official Journal Of The Metabolomic Society

Vasishta, Sampara S; Ganesh, Kailash K; Umakanth, Shashikiran S; Joshi, Manjunath B MB

Publication Date: 2022-06-28

Variant appearance in text: rs174554

PubMed Link: 35763080

Variant Present in the following documents:

• Main text
• 11306_2022_Article_1905.pdf

View BVdb publication page

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Systematic Influence of Circulating Bilirubin Levels on Osteoporosis.

Frontiers In Endocrinology

Zhao, Jinqiu J; Zhang, Muzi M; Quan, Zhengxue Z; Deng, Liang L; Li, Yongguo Y; He, Bin B

Publication Date: 2021

Variant appearance in text: rs174554

PubMed Link: 34539572

Variant Present in the following documents:

• Main text
• fendo-12-719920.pdf

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: FADS1: 684+480T>C; rs174554

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2

View BVdb publication page

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A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.

American Journal Of Human Genetics

Feofanova, Elena V EV; Chen, Han H; Dai, Yulin Y; Jia, Peilin P; Grove, Megan L ML; Morrison, Alanna C AC; Qi, Qibin Q; Daviglus, Martha M; Cai, Jianwen J; North, Kari E KE; Laurie, Cathy C CC; Kaplan, Robert C RC; Boerwinkle, Eric E; Yu, Bing B

Publication Date: 2020-11-05

Variant appearance in text: rs174554

PubMed Link: 33031748

Variant Present in the following documents:

• Main text

View BVdb publication page

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Eicosanoid Inflammatory Mediators Are Robustly Associated With Blood Pressure in the General Population.

Journal Of The American Heart Association

Palmu, Joonatan J; Watrous, Jeramie D JD; Mercader, Kysha K; Havulinna, Aki S AS; Lagerborg, Kim A KA; Salosensaari, Aaro A; Inouye, Mike M; Larson, Martin G MG; Rong, Jian J; Vasan, Ramachandran S RS; Lahti, Leo L; Andres, Allen A; Cheng, Susan S; Jousilahti, Pekka P; Salomaa, Veikko V; Jain, Mohit M; Niiranen, Teemu J TJ

Publication Date: 2020-10-20

Variant appearance in text: rs174554

PubMed Link: 32975162

Variant Present in the following documents:

• JAH3-9-e017598.pdf

View BVdb publication page

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs174554

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

View BVdb publication page

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Circulating bilirubin levels and risk of colorectal cancer: serological and Mendelian randomization analyses.

Bmc Medicine

Seyed Khoei, Nazlisadat N; Jenab, Mazda M; Murphy, Neil N; Banbury, Barbara L BL; Carreras-Torres, Robert R; Viallon, Vivian V; Kühn, Tilman T; Bueno-de-Mesquita, Bas B; Aleksandrova, Krasimira K; Cross, Amanda J AJ; Weiderpass, Elisabete E; Stepien, Magdalena M; Bulmer, Andrew A; Tjønneland, Anne A; Boutron-Ruault, Marie-Christine MC; Severi, Gianluca G; Carbonnel, Franck F; Katzke, Verena V; Boeing, Heiner H; Bergmann, Manuela M MM; Trichopoulou, Antonia A; Karakatsani, Anna A; Martimianaki, Georgia G; Palli, Domenico D; Tagliabue, Giovanna G; Panico, Salvatore S; Tumino, Rosario R; Sacerdote, Carlotta C; Skeie, Guri G; Merino, Susana S; Bonet, Catalina C; Rodríguez-Barranco, Miguel M; Gil, Leire L; Chirlaque, Maria-Dolores MD; Ardanaz, Eva E; Myte, Robin R; Hultdin, Johan J; Perez-Cornago, Aurora A; Aune, Dagfinn D; Tsilidis, Konstantinos K KK; Albanes, Demetrius D; Baron, John A JA; Berndt, Sonja I SI; Bézieau, Stéphane S; Brenner, Hermann H; Campbell, Peter T PT; Casey, Graham G; Chan, Andrew T AT; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Cotterchio, Michelle M; Gallinger, Steven S; Gruber, Stephen B SB; Haile, Robert W RW; Hampe, Jochen J; Hoffmeister, Michael M; Hopper, John L JL; Hsu, Li L; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Joshi, Amit D AD; Kampman, Ellen E; Larsson, Susanna C SC; Le Marchand, Loic L; Li, Christopher I CI; Li, Li L; Lindblom, Annika A; Lindor, Noralane M NM; Martín, Vicente V; Moreno, Victor V; Newcomb, Polly A PA; Offit, Kenneth K; Ogino, Shuji S; Parfrey, Patrick S PS; Pharoah, Paul D P PDP; Rennert, Gad G; Sakoda, Lori C LC; Schafmayer, Clemens C; Schmit, Stephanie L SL; Schoen, Robert E RE; Slattery, Martha L ML; Thibodeau, Stephen N SN; Ulrich, Cornelia M CM; van Duijnhoven, Franzel J B FJB; Weigl, Korbinian K; Weinstein, Stephanie J SJ; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Zhang, Xuehong X; Ferrari, Pietro P; Anton, Gabriele G; Peters, Annette A; Peters, Ulrike U; Gunter, Marc J MJ; Wagner, Karl-Heinz KH; Freisling, Heinz H

Publication Date: 2020-09-03

Variant appearance in text: rs174554

PubMed Link: 32878631

Variant Present in the following documents:

• 12916_2020_1703_MOESM1_ESM.pdf

View BVdb publication page

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Multi-omics Data Integration for Identifying Osteoporosis Biomarkers and Their Biological Interaction and Causal Mechanisms.

Iscience

Qiu, Chuan C; Yu, Fangtang F; Su, Kuanjui K; Zhao, Qi Q; Zhang, Lan L; Xu, Chao C; Hu, Wenxing W; Wang, Zun Z; Zhao, Lanjuan L; Tian, Qing Q; Wang, Yuping Y; Deng, Hongwen H; Shen, Hui H

Publication Date: 2020-02-21

Variant appearance in text: rs174554

PubMed Link: 32058959

Variant Present in the following documents:

• mmc1.pdf
• main.pdf

View BVdb publication page

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Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses.

Gastroenterology

Murphy, Neil N; Carreras-Torres, Robert R; Song, Mingyang M; Chan, Andrew T AT; Martin, Richard M RM; Papadimitriou, Nikos N; Dimou, Niki N; Tsilidis, Konstantinos K KK; Banbury, Barbara B; Bradbury, Kathryn E KE; Besevic, Jelena J; Rinaldi, Sabina S; Riboli, Elio E; Cross, Amanda J AJ; Travis, Ruth C RC; Agnoli, Claudia C; Albanes, Demetrius D; Berndt, Sonja I SI; Bézieau, Stéphane S; Bishop, D Timothy DT; Brenner, Hermann H; Buchanan, Daniel D DD; Onland-Moret, N Charlotte NC; Burnett-Hartman, Andrea A; Campbell, Peter T PT; Casey, Graham G; Castellví-Bel, Sergi S; Chang-Claude, Jenny J; Chirlaque, María-Dolores MD; de la Chapelle, Albert A; English, Dallas D; Figueiredo, Jane C JC; Gallinger, Steven J SJ; Giles, Graham G GG; Gruber, Stephen B SB; Gsur, Andrea A; Hampe, Jochen J; Hampel, Heather H; Harrison, Tabitha A TA; Hoffmeister, Michael M; Hsu, Li L; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Keku, Temitope O TO; Kühn, Tilman T; Kweon, Sun-Seog SS; Le Marchand, Loic L; Li, Christopher I CI; Li, Li L; Lindblom, Annika A; Martín, Vicente V; Milne, Roger L RL; Moreno, Victor V; Newcomb, Polly A PA; Offit, Kenneth K; Ogino, Shuji S; Ose, Jennifer J; Perduca, Vittorio V; Phipps, Amanda I AI; Platz, Elizabeth A EA; Potter, John D JD; Qu, Conghui C; Rennert, Gad G; Sakoda, Lori C LC; Schafmayer, Clemens C; Schoen, Robert E RE; Slattery, Martha L ML; Tangen, Catherine M CM; Ulrich, Cornelia M CM; van Duijnhoven, Franzel J B FJB; Van Guelpen, Bethany B; Visvanathan, Kala K; Vodicka, Pavel P; Vodickova, Ludmila L; Vymetalkova, Veronika V; Wang, Hansong H; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Zheng, Wei W; Peters, Ulrike U; Gunter, Marc J MJ

Publication Date: 2020-04

Variant appearance in text: rs174554

PubMed Link: 31884074

Variant Present in the following documents:

• Main text

View BVdb publication page

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Chromatin interactions and expression quantitative trait loci reveal genetic drivers of multimorbidities.

Nature Communications

Fadason, Tayaza T; Schierding, William W; Lumley, Thomas T; O'Sullivan, Justin M JM

Publication Date: 2018-12-05

Variant appearance in text: rs174554

PubMed Link: 30518762

Variant Present in the following documents:

• 41467_2018_Article_7692.pdf

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: FADS1: 684+480T>C; rs174554

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

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FADS1 and the Timing of Human Adaptation to Agriculture.

Molecular Biology And Evolution

Mathieson, Sara S; Mathieson, Iain I

Publication Date: 2018-12-01

Variant appearance in text: rs174554

PubMed Link: 30272210

Variant Present in the following documents:

• Main text
• msy180.pdf

View BVdb publication page

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Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study.

Plos Genetics

Davis, James P JP; Huyghe, Jeroen R JR; Locke, Adam E AE; Jackson, Anne U AU; Sim, Xueling X; Stringham, Heather M HM; Teslovich, Tanya M TM; Welch, Ryan P RP; Fuchsberger, Christian C; Narisu, Narisu N; Chines, Peter S PS; Kangas, Antti J AJ; Soininen, Pasi P; Ala-Korpela, Mika M; Kuusisto, Johanna J; Collins, Francis S FS; Laakso, Markku M; Boehnke, Michael M; Mohlke, Karen L KL

Publication Date: 2017-10

Variant appearance in text: rs174554

PubMed Link: 29084231

Variant Present in the following documents:

• Main text
• pgen.1007079.pdf

View BVdb publication page

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Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.

Nature Genetics

Zhang, Ben B; Jia, Wei-Hua WH; Matsuda, Koichi K; Kweon, Sun-Seog SS; Matsuo, Keitaro K; Xiang, Yong-Bing YB; Shin, Aesun A; Jee, Sun Ha SH; Kim, Dong-Hyun DH; Cai, Qiuyin Q; Long, Jirong J; Shi, Jiajun J; Wen, Wanqing W; Yang, Gong G; Zhang, Yanfeng Y; Li, Chun C; Li, Bingshan B; Guo, Yan Y; Ren, Zefang Z; Ji, Bu-Tian BT; Pan, Zhi-Zhong ZZ; Takahashi, Atsushi A; Shin, Min-Ho MH; Matsuda, Fumihiko F; Gao, Yu-Tang YT; Oh, Jae Hwan JH; Kim, Soriul S; Ahn, Yoon-Ok YO; , ; Chan, Andrew T AT; Chang-Claude, Jenny J; Slattery, Martha L ML; , ; Gruber, Stephen B SB; Schumacher, Fredrick R FR; Stenzel, Stephanie L SL; , ; Casey, Graham G; Kim, Hyeong-Rok HR; Jeong, Jin-Young JY; Park, Ji Won JW; Li, Hong-Lan HL; Hosono, Satoyo S; Cho, Sang-Hee SH; Kubo, Michiaki M; Shu, Xiao-Ou XO; Zeng, Yi-Xin YX; Zheng, Wei W

Publication Date: 2014-06

Variant appearance in text: rs174554

PubMed Link: 24836286

Variant Present in the following documents:

• NIHMS588441-supplement-1.pdf

View BVdb publication page

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