Publications:

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Dyslipidemia, inflammation, calcification, and adiposity in aortic stenosis: a genome-wide study.

European Heart Journal

Chen, Hao Yu HY; Dina, Christian C; Small, Aeron M AM; Shaffer, Christian M CM; Levinson, Rebecca T RT; Helgadóttir, Anna A; Capoulade, Romain R; Munter, Hans Markus HM; Martinsson, Andreas A; Cairns, Benjamin J BJ; Trudsø, Linea C LC; Hoekstra, Mary M; Burr, Hannah A HA; Marsh, Thomas W TW; Damrauer, Scott M SM; Dufresne, Line L; Le Scouarnec, Solena S; Messika-Zeitoun, David D; Ranatunga, Dilrini K DK; Whitmer, Rachel A RA; Bonnefond, Amélie A; Sveinbjornsson, Garðar G; Daníelsen, Ragnar R; Arnar, David O DO; Thorgeirsson, Gudmundur G; Thorsteinsdottir, Unnur U; Gudbjartsson, Daníel F DF; Hólm, Hilma H; Ghouse, Jonas J; Olesen, Morten Salling MS; Christensen, Alex H AH; Mikkelsen, Susan S; Jacobsen, Rikke Louise RL; Dowsett, Joseph J; Pedersen, Ole Birger Vesterager OBV; Erikstrup, Christian C; Ostrowski, Sisse R SR; , ; O'Donnell, Christopher J CJ; Budoff, Matthew J MJ; Gudnason, Vilmundur V; Post, Wendy S WS; Rotter, Jerome I JI; Lathrop, Mark M; Bundgaard, Henning H; Johansson, Bengt B; Ljungberg, Johan J; Näslund, Ulf U; Le Tourneau, Thierry T; Smith, J Gustav JG; Wells, Quinn S QS; Söderberg, Stefan S; Stefánsson, Kári K; Schott, Jean-Jacques JJ; Rader, Daniel J DJ; Clarke, Robert R; Engert, James C JC; Thanassoulis, George G

Publication Date: 2023-04-11

Variant appearance in text: rs174533

PubMed Link: 37038246

Variant Present in the following documents:

• Main text
• ehad142.pdf

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Assessment of Body Mass Index, Polygenic Risk Score, and Development of Colorectal Cancer.

Jama Network Open

Chen, Xuechen X; Li, Hengjing H; Mandic, Marko M; Hoffmeister, Michael M; Brenner, Hermann H

Publication Date: 2022-12-01

Variant appearance in text: rs174533

PubMed Link: 36547977

Variant Present in the following documents:

• jamanetwopen-e2248447-s001.pdf

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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: rs174533

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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Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association

Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J

Publication Date: 2022-10-04

Variant appearance in text: rs174533

PubMed Link: 36193932

Variant Present in the following documents:

• JAH3-11-e025245.pdf

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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: rs174533

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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FADS1 and FADS2 Gene Polymorphisms Modulate the Relationship of Omega-3 and Omega-6 Fatty Acid Plasma Concentrations in Gestational Weight Gain: A NISAMI Cohort Study.

Nutrients

Santana, Jerusa da Mota JDM; Pereira, Marcos M; Carvalho, Gisele Queiroz GQ; Gouveia Peluzio, Maria do Carmo MDC; Drumond Louro, Iúri I; Santos, Djanilson Barbosa Dos DBD; Oliveira, Ana Marlucia AM

Publication Date: 2022-03-02

Variant appearance in text: rs174533

PubMed Link: 35268031

Variant Present in the following documents:

• Main text
• nutrients-14-01056.pdf

View BVdb publication page

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Plasma Metabolomic Signatures of Chronic Obstructive Pulmonary Disease and the Impact of Genetic Variants on Phenotype-Driven Modules.

Network And Systems Medicine

Gillenwater, Lucas A LA; Pratte, Katherine A KA; Hobbs, Brian D BD; Cho, Michael H MH; Zhuang, Yonghua Y; Halper-Stromberg, Eitan E; Cruickshank-Quinn, Charmion C; Reisdorph, Nichole N; Petrache, Irina I; Labaki, Wassim W WW; O'Neal, Wanda K WK; Ortega, Victor E VE; Jones, Dean P DP; Uppal, Karan K; Jacobson, Sean S; Michelotti, Gregory G; Wendt, Christine H CH; Kechris, Katerina J KJ; Bowler, Russell P RP

Publication Date: 2020-12-01

Variant appearance in text: rs174533

PubMed Link: 33987620

Variant Present in the following documents:

• Main text
• nsm.2020.0009.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs174533

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.

Communications Biology

Bell, Steven S; Rigas, Andreas S AS; Magnusson, Magnus K MK; Ferkingstad, Egil E; Allara, Elias E; Bjornsdottir, Gyda G; Ramond, Anna A; Sørensen, Erik E; Halldorsson, Gisli H GH; Paul, Dirk S DS; Burgdorf, Kristoffer S KS; Eggertsson, Hannes P HP; Howson, Joanna M M JMM; Thørner, Lise W LW; Kristmundsdottir, Snaedis S; Astle, William J WJ; Erikstrup, Christian C; Sigurdsson, Jon K JK; Vuckovic, Dragana D; Dinh, Khoa M KM; Tragante, Vinicius V; Surendran, Praveen P; Pedersen, Ole B OB; Vidarsson, Brynjar B; Jiang, Tao T; Paarup, Helene M HM; Onundarson, Pall T PT; Akbari, Parsa P; Nielsen, Kaspar R KR; Lund, Sigrun H SH; Juliusson, Kristinn K; Magnusson, Magnus I MI; Frigge, Michael L ML; Oddsson, Asmundur A; Olafsson, Isleifur I; Kaptoge, Stephen S; Hjalgrim, Henrik H; Runarsson, Gudmundur G; Wood, Angela M AM; Jonsdottir, Ingileif I; Hansen, Thomas F TF; Sigurdardottir, Olof O; Stefansson, Hreinn H; Rye, David D; , ; Peters, James E JE; Westergaard, David D; Holm, Hilma H; Soranzo, Nicole N; Banasik, Karina K; Thorleifsson, Gudmar G; Ouwehand, Willem H WH; Thorsteinsdottir, Unnur U; Roberts, David J DJ; Sulem, Patrick P; Butterworth, Adam S AS; Gudbjartsson, Daniel F DF; Danesh, John J; Brunak, Søren S; Di Angelantonio, Emanuele E; Ullum, Henrik H; Stefansson, Kari K

Publication Date: 2021-02-03

Variant appearance in text: rs174533

PubMed Link: 33536631

Variant Present in the following documents:

• 42003_2020_1575_MOESM4_ESM.xlsx, sheet 10

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: rs174533

PubMed Link: 32975162

Variant Present in the following documents:

• JAH3-9-e017598.pdf

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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: rs174533

PubMed Link: 32879140

Variant Present in the following documents:

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

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: rs174533

PubMed Link: 32058959

Variant Present in the following documents:

• mmc1.pdf
• main.pdf

View BVdb publication page

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Influence of fatty acid desaturase (FADS) genotype on maternal and child polyunsaturated fatty acids (PUFA) status and child health outcomes: a systematic review.

Nutrition Reviews

Conway, Marie C MC; McSorley, Emeir M EM; Mulhern, Maria S MS; Strain, J J JJ; van Wijngaarden, Edwin E; Yeates, Alison J AJ

Publication Date: 2020-08-01

Variant appearance in text: rs174533

PubMed Link: 31943072

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genes and Dietary Fatty Acids in Regulation of Fatty Acid Composition of Plasma and Erythrocyte Membranes.

Nutrients

Lankinen, Maria M; Uusitupa, Matti M; Schwab, Ursula U

Publication Date: 2018-11-16

Variant appearance in text: rs174533

PubMed Link: 30453550

Variant Present in the following documents:

• Main text
• nutrients-10-01785.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: MYRF: 2765-20G>A; rs174533

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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Maternal single nucleotide polymorphisms in the fatty acid desaturase 1 and 2 coding regions modify the impact of prenatal supplementation with DHA on birth weight.

The American Journal Of Clinical Nutrition

Gonzalez-Casanova, Ines I; Rzehak, Peter P; Stein, Aryeh D AD; Garcia Feregrino, Raquel R; Rivera Dommarco, Juan A JA; Barraza-Villarreal, Albino A; Demmelmair, Hans H; Romieu, Isabelle I; Villalpando, Salvador S; Martorell, Reynaldo R; Koletzko, Berthold B; Ramakrishnan, Usha U

Publication Date: 2016-04

Variant appearance in text: rs174533

PubMed Link: 26912491

Variant Present in the following documents:

• Main text

View BVdb publication page

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Insights from GWAS: emerging landscape of mechanisms underlying complex trait disease.

Bmc Genomics

Pal, Lipika R LR; Yu, Chen-Hsin CH; Mount, Stephen M SM; Moult, John J

Publication Date: 2015

Variant appearance in text: rs174533

PubMed Link: 26110739

Variant Present in the following documents:

• 1471-2164-16-S8-S4-S1.pdf

View BVdb publication page

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Docosahexaenoic acid (DHA) supplementation in pregnancy differentially modulates arachidonic acid and DHA status across FADS genotypes in pregnancy.

Prostaglandins, Leukotrienes, And Essential Fatty Acids

Scholtz, S A SA; Kerling, E H EH; Shaddy, D J DJ; Li, S S; Thodosoff, J M JM; Colombo, J J; Carlson, S E SE

Publication Date: 2015-03

Variant appearance in text: rs174533

PubMed Link: 25500337

Variant Present in the following documents:

• Main text

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: rs174533

PubMed Link: 24836286

Variant Present in the following documents:

• NIHMS588441-supplement-1.pdf

View BVdb publication page

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