Publications:

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Deciphering the Genetic Code of Autoimmune Kidney Diseases.

Genes

Huang, Stephanie U-Shane SU; Kulatunge, Oneli O; O'Sullivan, Kim Maree KM

Publication Date: 2023-04-30

Variant appearance in text: rs28929474

PubMed Link: 37239388

Variant Present in the following documents:

• Main text
• genes-14-01028.pdf

View BVdb publication page

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Exploring the Therapeutic Potential of Elastase Inhibition in Age-Related Macular Degeneration in Mouse and Human.

Cells

Navneet, Soumya S; Brandon, Carlene C; Simpson, Kit K; Rohrer, Bärbel B

Publication Date: 2023-05-03

Variant appearance in text: rs28929474

PubMed Link: 37174708

Variant Present in the following documents:

• Main text
• cells-12-01308.pdf

View BVdb publication page

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Causal effects for genetic variants of osteoprotegerin on the risk of acute myocardial infarction and coronary heart disease: A two-sample Mendelian randomization study.

Frontiers In Cardiovascular Medicine

Chao, Peng P; Zhang, Xueqin X; Zhang, Lei L; Cui, Xinyue X; Wang, Shanshan S; Yang, Yining Y

Publication Date: 2023

Variant appearance in text: rs28929474

PubMed Link: 36960470

Variant Present in the following documents:

• Main text
• fcvm-10-1041231.pdf

View BVdb publication page

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Dietary factors and risk for asthma: A Mendelian randomization analysis.

Frontiers In Immunology

Yang, Wenwen W; Yang, Yanjiang Y; He, Li L; Zhang, Min M; Sun, Shuo S; Wang, Feng F; Han, Biao B

Publication Date: 2023

Variant appearance in text: rs28929474

PubMed Link: 36911739

Variant Present in the following documents:

• Main text
• fimmu-14-1126457.pdf

View BVdb publication page

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DeepPheWAS: an R package for phenotype generation and association analysis for phenome-wide association studies.

Bioinformatics (Oxford, England)

Packer, Richard J RJ; Williams, Alex T AT; Hennah, William W; Eisenberg, Micaela T MT; Fawcett, Katherine A KA; Pearson, Willow W; Guyatt, Anna L AL; Edris, Ahmed A; Hollox, Edward J EJ; Marttila, Mikko M; Rao, Balasubramanya S BS; Bratty, John Raymond JR; Wain, Louise V LV; Dudbridge, Frank F; Tobin, Martin D MD

Publication Date: 2023-02-06

Variant appearance in text: rs28929474

PubMed Link: 36744935

Variant Present in the following documents:

• Main text
• btad073.pdf

View BVdb publication page

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Mono- and biallelic variant effects on disease at biobank scale.

Nature

Heyne, H O HO; Karjalainen, J J; Karczewski, K J KJ; Lemmelä, S M SM; Zhou, W W; , ; Havulinna, A S AS; Kurki, M M; Rehm, H L HL; Palotie, A A; Daly, M J MJ

Publication Date: 2023-01

Variant appearance in text: rs28929474

PubMed Link: 36653560

Variant Present in the following documents:

• 41586_2022_5420_MOESM1_ESM.pdf

View BVdb publication page

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Association of Alpha-1 Antitrypsin Pi*Z Allele Frequency and Progressive Liver Fibrosis in Two Chronic Hepatitis C Cohorts.

Journal Of Clinical Medicine

Mücke, Victoria Therese VT; Fischer, Janett J; Mücke, Marcus Maximilian MM; Teumer, Alexander A; Koch, Alexander A; Vermehren, Johannes J; Fromme, Malin M; Zeuzem, Stefan S; Trautwein, Christian C; Sarrazin, Christoph C; Berg, Thomas T; Zhou, Biaohuan B; Hamesch, Karim K

Publication Date: 2022-12-29

Variant appearance in text: rs28929474

PubMed Link: 36615054

Variant Present in the following documents:

• Main text
• jcm-12-00253.pdf

View BVdb publication page

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Association of Inherited Genetic Factors With Drug-Induced Hepatic Damage Among Children With Acute Lymphoblastic Leukemia.

Jama Network Open

Yang, Wenjian W; Karol, Seth E SE; Hoshitsuki, Keito K; Lee, Shawn S; Larsen, Eric C EC; Winick, Naomi N; Carroll, William L WL; Loh, Mignon L ML; Raetz, Elizabeth A EA; Hunger, Stephen P SP; Winter, Stuart S SS; Dunsmore, Kimberly P KP; Devidas, Meenakshi M; Relling, Mary V MV; Yang, Jun J JJ

Publication Date: 2022-12-01

Variant appearance in text: rs28929474

PubMed Link: 36580335

Variant Present in the following documents:

• jamanetwopen-e2248803-s001.pdf

View BVdb publication page

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Genetically predicted testosterone and cancers risk in men: a two-sample Mendelian randomization study.

Journal Of Translational Medicine

Chang, Junke J; Wu, Yongming Y; Zhou, Sicheng S; Tian, Ye Y; Wang, Yan Y; Tian, Jie J; Song, Wenpeng W; Dong, Yinxian Y; Li, Jue J; Zhao, Ziyi Z; Che, Guowei G

Publication Date: 2022-12-08

Variant appearance in text: rs28929474

PubMed Link: 36482455

Variant Present in the following documents:

• Main text
• 12967_2022_Article_3783.pdf

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: SERPINA1: E366Q; rs28929474

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Influence of SERPINA1 Gene Polymorphisms on Anemia and Chronic Obstructive Pulmonary Disease.

Journal Of The Renin-Angiotensin-Aldosterone System : Jraas

Sangeetha, Thangavelu T; Nargis Begum, Tajuddin T; Balamuralikrishnan, Balasubramanian B; Arun, Meyyazhagan M; Rengasamy, Kannan R R KRR; Senthilkumar, Natchiappan N; Velayuthaprabhu, Shanmugam S; Saradhadevi, Muthukrishnan M; Sampathkumar, Palanisamy P; Vijaya Anand, Arumugam A

Publication Date: 2022

Variant appearance in text: rs28929474

PubMed Link: 36320441

Variant Present in the following documents:

• JRAAS2022-2238320.pdf

View BVdb publication page

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Unique and shared systemic biomarkers for emphysema in Alpha-1 Antitrypsin deficiency and chronic obstructive pulmonary disease.

Ebiomedicine

Serban, K A KA; Pratte, K A KA; Strange, C C; Sandhaus, R A RA; Turner, A M AM; Beiko, T T; Spittle, D A DA; Maier, L L; Hamzeh, N N; Silverman, E K EK; Hobbs, B D BD; Hersh, C P CP; DeMeo, D L DL; Cho, M H MH; Bowler, R P RP

Publication Date: 2022-10

Variant appearance in text: rs28929474

PubMed Link: 36155958

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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COVID-19 Survivor Patients Carrying the Rs35705950 Risk Allele in MUC5B Have Higher Plasma Levels of Mucin 5B.

Current Issues In Molecular Biology

García-Carmona, Salvador S; Falfán-Valencia, Ramcés R; Verónica-Aguilar, Abigail A; Buendía-Roldán, Ivette I; Chávez-Galán, Leslie L; Hernández-Zenteno, Rafael de Jesús RJ; Martínez-Morales, Alfonso A; Fricke-Galindo, Ingrid I; Alanis-Ponce, Jesús J; Valencia-Pérez Rea, Daniela D; Gutiérrez-Pérez, Ilse Adriana IA; Zaragoza-García, Oscar O; Nava-Quiroz, Karol J KJ; Camarena, Angel A; Mejía, Mayra M; Guzmán-Guzmán, Iris Paola IP; Pérez-Rubio, Gloria G

Publication Date: 2022-07-22

Variant appearance in text: rs28929474

PubMed Link: 35892712

Variant Present in the following documents:

• Main text
• cimb-44-00226.pdf

View BVdb publication page

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Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.

Journal Of Personalized Medicine

Sotnikova, Evgeniia A EA; Kiseleva, Anna V AV; Kutsenko, Vladimir A VA; Zharikova, Anastasia A AA; Ramensky, Vasily E VE; Divashuk, Mikhail G MG; Vyatkin, Yuri V YV; Klimushina, Marina V MV; Ershova, Alexandra I AI; Revazyan, Karina Z KZ; Skirko, Olga P OP; Zaicenoka, Marija M; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Kopylova, Oksana V OV; Glechan, Anush M AM; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM

Publication Date: 2022-07-12

Variant appearance in text: rs28929474

PubMed Link: 35887629

Variant Present in the following documents:

• Main text
• jpm-12-01132.pdf

View BVdb publication page

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Glucose-Related Traits and Risk of Migraine-A Potential Mechanism and Treatment Consideration.

Genes

Islam, Md Rafiqul MR; Nyholt, Dale R DR

Publication Date: 2022-04-22

Variant appearance in text: rs28929474

PubMed Link: 35627115

Variant Present in the following documents:

• genes-13-00730.pdf

View BVdb publication page

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Relationship between NAFLD and coronary artery disease: A Mendelian randomization study.

Hepatology (Baltimore, Md.)

Ren, Zhewen Z; Simons, Pomme I H G PIHG; Wesselius, Anke A; Stehouwer, Coen D A CDA; Brouwers, Martijn C G J MCGJ

Publication Date: 2022-04-20

Variant appearance in text: rs28929474

PubMed Link: 35441719

Variant Present in the following documents:

• Main text
• hep-77-230.pdf

View BVdb publication page

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Genetic Landscape of the ACE2 Coronavirus Receptor.

Circulation

Yang, Zhijian Z; Macdonald-Dunlop, Erin E; Chen, Jiantao J; Zhai, Ranran R; Li, Ting T; Richmond, Anne A; Klarić, Lucija L; Pirastu, Nicola N; Ning, Zheng Z; Zheng, Chenqing C; Wang, Yipeng Y; Huang, Tingting T; He, Yazhou Y; Guo, Huiming H; Ying, Kejun K; Gustafsson, Stefan S; Prins, Bram B; Ramisch, Anna A; Dermitzakis, Emmanouil T ET; Png, Grace G; Eriksson, Niclas N; Haessler, Jeffrey J; Hu, Xiaowei X; Zanetti, Daniela D; Boutin, Thibaud T; Hwang, Shih-Jen SJ; Wheeler, Eleanor E; Pietzner, Maik M; Raffield, Laura M LM; Kalnapenkis, Anette A; Peters, James E JE; Viñuela, Ana A; Gilly, Arthur A; Elmståhl, Sölve S; Dedoussis, George G; Petrie, John R JR; Polašek, Ozren O; Folkersen, Lasse L; Chen, Yan Y; Yao, Chen C; Võsa, Urmo U; Pairo-Castineira, Erola E; Clohisey, Sara S; Bretherick, Andrew D AD; Rawlik, Konrad K; , ; , ; Esko, Tõnu T; Enroth, Stefan S; Johansson, Åsa Å; Gyllensten, Ulf U; Langenberg, Claudia C; Levy, Daniel D; Hayward, Caroline C; Assimes, Themistocles L TL; Kooperberg, Charles C; Manichaikul, Ani W AW; Siegbahn, Agneta A; Wallentin, Lars L; Lind, Lars L; Zeggini, Eleftheria E; Schwenk, Jochen M JM; Butterworth, Adam S AS; Michaëlsson, Karl K; Pawitan, Yudi Y; Joshi, Peter K PK; Baillie, J Kenneth JK; Mälarstig, Anders A; Reiner, Alexander P AP; Wilson, James F JF; Shen, Xia X

Publication Date: 2022-05-03

Variant appearance in text: rs28929474

PubMed Link: 35387486

Variant Present in the following documents:

• Main text
• cir-145-1398.pdf

View BVdb publication page

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Understanding the complex genetic architecture connecting rheumatoid arthritis, osteoporosis and inflammation: discovering causal pathways.

Human Molecular Genetics

Kasher, Melody M; Williams, Frances M K FMK; Freidin, Maxim B MB; Malkin, Ida I; Cherny, Stacey S SS; , ; Livshits, Gregory G

Publication Date: 2022-08-23

Variant appearance in text: rs28929474

PubMed Link: 35349660

Variant Present in the following documents:

• Main text
• ddac061.pdf

View BVdb publication page

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Diagnostic Modalities of Non-Alcoholic Fatty Liver Disease: From Biochemical Biomarkers to Multi-Omics Non-Invasive Approaches.

Diagnostics (Basel, Switzerland)

Martinou, Eirini E; Pericleous, Marinos M; Stefanova, Irena I; Kaur, Vasha V; Angelidi, Angeliki M AM

Publication Date: 2022-02-04

Variant appearance in text: rs28929474

PubMed Link: 35204498

Variant Present in the following documents:

• Main text
• diagnostics-12-00407.pdf

View BVdb publication page

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Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.

Nature Communications

Bjornsdottir, Gyda G; Stefansdottir, Lilja L; Thorleifsson, Gudmar G; Sulem, Patrick P; Norland, Kristjan K; Ferkingstad, Egil E; Oddsson, Asmundur A; Zink, Florian F; Lund, Sigrun H SH; Nawaz, Muhammad S MS; Bragi Walters, G G; Skuladottir, Astros Th AT; Gudjonsson, Sigurjon A SA; Einarsson, Gudmundur G; Halldorsson, Gisli H GH; Bjarnadottir, Valgerdur V; Sveinbjornsson, Gardar G; Helgadottir, Anna A; Styrkarsdottir, Unnur U; Gudmundsson, Larus J LJ; Pedersen, Ole B OB; Hansen, Thomas Folkmann TF; Werge, Thomas T; Banasik, Karina K; Troelsen, Anders A; Skou, Soren T ST; Thørner, Lise Wegner LW; Erikstrup, Christian C; Nielsen, Kaspar Rene KR; Mikkelsen, Susan S; , ; , ; Jonsdottir, Ingileif I; Bjornsson, Aron A; Olafsson, Ingvar H IH; Ulfarsson, Elfar E; Blondal, Josep J; Vikingsson, Arnor A; Brunak, Soren S; Ostrowski, Sisse R SR; Ullum, Henrik H; Thorsteinsdottir, Unnur U; Stefansson, Hreinn H; Gudbjartsson, Daniel F DF; Thorgeirsson, Thorgeir E TE; Stefansson, Kari K

Publication Date: 2022-02-02

Variant appearance in text: rs28929474

PubMed Link: 35110524

Variant Present in the following documents:

• Main text
• 41467_2022_Article_28167.pdf
• 41467_2022_28167_MOESM1_ESM.pdf

View BVdb publication page

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Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.

Nature Communications

Bjornsdottir, Gyda G; Stefansdottir, Lilja L; Thorleifsson, Gudmar G; Sulem, Patrick P; Norland, Kristjan K; Ferkingstad, Egil E; Oddsson, Asmundur A; Zink, Florian F; Lund, Sigrun H SH; Nawaz, Muhammad S MS; Bragi Walters, G G; Skuladottir, Astros Th AT; Gudjonsson, Sigurjon A SA; Einarsson, Gudmundur G; Halldorsson, Gisli H GH; Bjarnadottir, Valgerdur V; Sveinbjornsson, Gardar G; Helgadottir, Anna A; Styrkarsdottir, Unnur U; Gudmundsson, Larus J LJ; Pedersen, Ole B OB; Hansen, Thomas Folkmann TF; Werge, Thomas T; Banasik, Karina K; Troelsen, Anders A; Skou, Soren T ST; Thørner, Lise Wegner LW; Erikstrup, Christian C; Nielsen, Kaspar Rene KR; Mikkelsen, Susan S; , ; , ; Jonsdottir, Ingileif I; Bjornsson, Aron A; Olafsson, Ingvar H IH; Ulfarsson, Elfar E; Blondal, Josep J; Vikingsson, Arnor A; Brunak, Soren S; Ostrowski, Sisse R SR; Ullum, Henrik H; Thorsteinsdottir, Unnur U; Stefansson, Hreinn H; Gudbjartsson, Daniel F DF; Thorgeirsson, Thorgeir E TE; Stefansson, Kari K

Publication Date: 2022-02-02

Variant appearance in text: rs28929474

PubMed Link: 35110524

Variant Present in the following documents:

• Main text
• 41467_2022_Article_28167.pdf
• 41467_2022_28167_MOESM1_ESM.pdf

View BVdb publication page

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Interaction of Cigarette Smoking and Polygenic Risk Score on Reduced Lung Function.

Jama Network Open

Kim, Woori W; Moll, Matthew M; Qiao, Dandi D; Hobbs, Brian D BD; Shrine, Nick N; Sakornsakolpat, Phuwanat P; Tobin, Martin D MD; Dudbridge, Frank F; Wain, Louise V LV; Ladd-Acosta, Christine C; Chatterjee, Nilanjan N; Silverman, Edwin K EK; Cho, Michael H MH; Beaty, Terri H TH

Publication Date: 2021-12-01

Variant appearance in text: rs28929474

PubMed Link: 34913977

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interaction of Cigarette Smoking and Polygenic Risk Score on Reduced Lung Function.

Jama Network Open

Kim, Woori W; Moll, Matthew M; Qiao, Dandi D; Hobbs, Brian D BD; Shrine, Nick N; Sakornsakolpat, Phuwanat P; Tobin, Martin D MD; Dudbridge, Frank F; Wain, Louise V LV; Ladd-Acosta, Christine C; Chatterjee, Nilanjan N; Silverman, Edwin K EK; Cho, Michael H MH; Beaty, Terri H TH

Publication Date: 2021-12-01

Variant appearance in text: rs28929474

PubMed Link: 34913977

Variant Present in the following documents:

• Main text

View BVdb publication page

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Instrumental variable estimation for a time-varying treatment and a time-to-event outcome via structural nested cumulative failure time models.

Bmc Medical Research Methodology

Shi, Joy J; Swanson, Sonja A SA; Kraft, Peter P; Rosner, Bernard B; De Vivo, Immaculata I; Hernán, Miguel A MA

Publication Date: 2021-11-25

Variant appearance in text: rs28929474

PubMed Link: 34823502

Variant Present in the following documents:

• 12874_2021_1449_MOESM1_ESM.pdf

View BVdb publication page

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Osteoarthritis year in review: genetics, genomics, epigenetics.

Osteoarthritis And Cartilage

Young, D A DA; Barter, M J MJ; Soul, J J

Publication Date: 2021-11-11

Variant appearance in text: rs28929474

PubMed Link: 34774787

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Osteoarthritis year in review: genetics, genomics, epigenetics.

Osteoarthritis And Cartilage

Young, D A DA; Barter, M J MJ; Soul, J J

Publication Date: 2022-02

Variant appearance in text: rs28929474

PubMed Link: 34774787

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Unraveling the Immunopathogenesis and Genetic Variants in Vasculitis Toward Development of Personalized Medicine.

Frontiers In Cardiovascular Medicine

Yap, Bryan Ju Min BJM; Lai-Foenander, Ashley Sean AS; Goh, Bey Hing BH; Ong, Yong Sze YS; Duangjai, Acharaporn A; Saokaew, Surasak S; Chua, Caroline Lin Lin CLL; Phisalprapa, Pochamana P; Yap, Wei Hsum WH

Publication Date: 2021

Variant appearance in text: rs28929474

PubMed Link: 34621800

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of Genetic Risk Score With NAFLD in An Ethnically Diverse Cohort.

Hepatology Communications

Wang, Jun J; Conti, David V DV; Bogumil, David D; Sheng, Xin X; Noureddin, Mazen M; Wilkens, Lynne R LR; Le Marchand, Loic L; Rosen, Hugo R HR; Haiman, Christopher A CA; Setiawan, Veronica Wendy VW

Publication Date: 2021-10

Variant appearance in text: rs28929474

PubMed Link: 34558842

Variant Present in the following documents:

• Main text
• HEP4-5-1689.pdf

View BVdb publication page

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Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.

Cell

Boer, Cindy G CG; Hatzikotoulas, Konstantinos K; Southam, Lorraine L; Stefánsdóttir, Lilja L; Zhang, Yanfei Y; Coutinho de Almeida, Rodrigo R; Wu, Tian T TT; Zheng, Jie J; Hartley, April A; Teder-Laving, Maris M; Skogholt, Anne Heidi AH; Terao, Chikashi C; Zengini, Eleni E; Alexiadis, George G; Barysenka, Andrei A; Bjornsdottir, Gyda G; Gabrielsen, Maiken E ME; Gilly, Arthur A; Ingvarsson, Thorvaldur T; Johnsen, Marianne B MB; Jonsson, Helgi H; Kloppenburg, Margreet M; Luetge, Almut A; Lund, Sigrun H SH; Mägi, Reedik R; Mangino, Massimo M; Nelissen, Rob R G H H RRGHH; Shivakumar, Manu M; Steinberg, Julia J; Takuwa, Hiroshi H; Thomas, Laurent F LF; Tuerlings, Margo M; , ; , ; , ; , ; Babis, George C GC; Cheung, Jason Pui Yin JPY; Kang, Jae Hee JH; Kraft, Peter P; Lietman, Steven A SA; Samartzis, Dino D; Slagboom, P Eline PE; Stefansson, Kari K; Thorsteinsdottir, Unnur U; Tobias, Jonathan H JH; Uitterlinden, André G AG; Winsvold, Bendik B; Zwart, John-Anker JA; Davey Smith, George G; Sham, Pak Chung PC; Thorleifsson, Gudmar G; Gaunt, Tom R TR; Morris, Andrew P AP; Valdes, Ana M AM; Tsezou, Aspasia A; Cheah, Kathryn S E KSE; Ikegawa, Shiro S; Hveem, Kristian K; Esko, Tõnu T; Wilkinson, J Mark JM; Meulenbelt, Ingrid I; Lee, Ming Ta Michael MTM; van Meurs, Joyce B J JBJ; Styrkársdóttir, Unnur U; Zeggini, Eleftheria E

Publication Date: 2021-09-02

Variant appearance in text: SERPINA1: Glu366Gln; rs28929474

PubMed Link: 34450027

Variant Present in the following documents:

• Main text

View BVdb publication page

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Heterozygosity of the Alpha 1-Antitrypsin Pi*Z Allele and Risk of Liver Disease.

Hepatology Communications

Hakim, Aaron A; Moll, Matthew M; Qiao, Dandi D; Liu, Jiangyuan J; Lasky-Su, Jessica A JA; Silverman, Edwin K EK; Vilarinho, Silvia S; Jiang, Z Gordon ZG; Hobbs, Brian D BD; Cho, Michael H MH

Publication Date: 2021-08

Variant appearance in text: rs28929474

PubMed Link: 34430780

Variant Present in the following documents:

• Main text

View BVdb publication page

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Nonalcoholic fatty liver disease stratification by liver lipidomics.

Journal Of Lipid Research

Vvedenskaya, Olga O; Rose, Tim Daniel TD; Knittelfelder, Oskar O; Palladini, Alessandra A; Wodke, Judith Andrea Heidrun JAH; Schuhmann, Kai K; Ackerman, Jacobo Miranda JM; Wang, Yuting Y; Has, Canan C; Brosch, Mario M; Thangapandi, Veera Raghavan VR; Buch, Stephan S; Züllig, Thomas T; Hartler, Jürgen J; Köfeler, Harald C HC; Röcken, Christoph C; Coskun, Ünal Ü; Klipp, Edda E; von Schoenfels, Witigo W; Gross, Justus J; Schafmayer, Clemens C; Hampe, Jochen J; Pauling, Josch Konstantin JK; Shevchenko, Andrej A

Publication Date: 2021

Variant appearance in text: rs28929474

PubMed Link: 34384788

Variant Present in the following documents:

• Main text
• main.pdf
• mmc2.pdf

View BVdb publication page

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Nonalcoholic fatty liver disease stratification by liver lipidomics.

Journal Of Lipid Research

Vvedenskaya, Olga O; Rose, Tim Daniel TD; Knittelfelder, Oskar O; Palladini, Alessandra A; Wodke, Judith Andrea Heidrun JAH; Schuhmann, Kai K; Ackerman, Jacobo Miranda JM; Wang, Yuting Y; Has, Canan C; Brosch, Mario M; Thangapandi, Veera Raghavan VR; Buch, Stephan S; Züllig, Thomas T; Hartler, Jürgen J; Köfeler, Harald C HC; Röcken, Christoph C; Coskun, Ünal Ü; Klipp, Edda E; von Schoenfels, Witigo W; Gross, Justus J; Schafmayer, Clemens C; Hampe, Jochen J; Pauling, Josch Konstantin JK; Shevchenko, Andrej A

Publication Date: 2021-08-10

Variant appearance in text: rs28929474

PubMed Link: 34384788

Variant Present in the following documents:

• Main text
• main.pdf
• mmc2.pdf

View BVdb publication page

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Genetic Susceptibility for Low Testosterone in Men and Its Implications in Biology and Screening: Data from the UK Biobank.

European Urology Open Science

Fantus, Richard J RJ; Na, Rong R; Wei, Jun J; Shi, Zhuqing Z; Resurreccion, W Kyle WK; Halpern, Joshua A JA; Franco, Omar O; Hayward, Simon W SW; Isaacs, William B WB; Zheng, S Lilly SL; Xu, Jianfeng J; Helfand, Brian T BT

Publication Date: 2021-07

Variant appearance in text: rs28929474

PubMed Link: 34337532

Variant Present in the following documents:

• Main text

View BVdb publication page

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GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms.

Nature Communications

Ward, Lucas D LD; Tu, Ho-Chou HC; Quenneville, Chelsea B CB; Tsour, Shira S; Flynn-Carroll, Alexander O AO; Parker, Margaret M MM; Deaton, Aimee M AM; Haslett, Patrick A J PAJ; Lotta, Luca A LA; Verweij, Niek N; Ferreira, Manuel A R MAR; , ; , ; Baras, Aris A; Hinkle, Gregory G; Nioi, Paul P

Publication Date: 2021-07-27

Variant appearance in text: rs28929474

PubMed Link: 34315874

Variant Present in the following documents:

• Main text
• 41467_2021_Article_24563.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: rs28929474

PubMed Link: 34078906

Variant Present in the following documents:

• Main text

View BVdb publication page

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Alcohol Consumption Is Associated with Poor Prognosis in Obese Patients with COVID-19: A Mendelian Randomization Study Using UK Biobank.

Nutrients

Fan, Xiude X; Liu, Zhengwen Z; Poulsen, Kyle L KL; Wu, Xiaoqin X; Miyata, Tatsunori T; Dasarathy, Srinivasan S; Rotroff, Daniel M DM; Nagy, Laura E LE

Publication Date: 2021-05-10

Variant appearance in text: rs28929474

PubMed Link: 34068824

Variant Present in the following documents:

• Main text

View BVdb publication page

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SARS-CoV-2 infection in alpha1-antitrypsin deficiency.

Respiratory Medicine

Schneider, Carolin V CV; Strnad, Pavel P

Publication Date: 2021-08

Variant appearance in text: rs28929474

PubMed Link: 34010739

Variant Present in the following documents:

• Main text

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Pleiotropic associations of heterozygosity for the SERPINA1 Z allele in the UK Biobank.

Erj Open Research

Fawcett, Katherine A KA; Song, Kijoung K; Qian, Guoqing G; Farmaki, Aliki-Eleni AE; Packer, Richard R; John, Catherine C; Shrine, Nick N; Granell, Raquel R; Ring, Sue S; Timpson, Nicholas J NJ; Yerges-Armstrong, Laura M LM; Eastell, Richard R; Wain, Louise V LV; Scott, Robert A RA; Tobin, Martin D MD; Hall, Ian P IP

Publication Date: 2021-04

Variant appearance in text: rs28929474

PubMed Link: 33981765

Variant Present in the following documents:

• Main text

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Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.

Nature Communications

Pazoki, Raha R; Vujkovic, Marijana M; Elliott, Joshua J; Evangelou, Evangelos E; Gill, Dipender D; Ghanbari, Mohsen M; van der Most, Peter J PJ; Pinto, Rui Climaco RC; Wielscher, Matthias M; Farlik, Matthias M; Zuber, Verena V; de Knegt, Robert J RJ; Snieder, Harold H; Uitterlinden, André G AG; , ; Lynch, Julie A JA; Jiang, Xiyun X; Said, Saredo S; Kaplan, David E DE; Lee, Kyung Min KM; Serper, Marina M; Carr, Rotonya M RM; Tsao, Philip S PS; Atkinson, Stephen R SR; Dehghan, Abbas A; Tzoulaki, Ioanna I; Ikram, M Arfan MA; Herzig, Karl-Heinz KH; Järvelin, Marjo-Riitta MR; Alizadeh, Behrooz Z BZ; O'Donnell, Christopher J CJ; Saleheen, Danish D; Voight, Benjamin F BF; Chang, Kyong-Mi KM; Thursz, Mark R MR; Elliott, Paul P; ,

Publication Date: 2021-05-10

Variant appearance in text: rs28929474

PubMed Link: 33972514

Variant Present in the following documents:

• Main text

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Antineutrophil Cytoplasmic Antibody-Associated Vasculitis Update: Genetic Pathogenesis.

Frontiers In Immunology

Li, Weiran W; Huang, He H; Cai, Minglong M; Yuan, Tao T; Sheng, Yujun Y

Publication Date: 2021

Variant appearance in text: rs28929474

PubMed Link: 33841406

Variant Present in the following documents:

• Main text

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Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum.

The Application Of Clinical Genetics

Seixas, Susana S; Marques, Patricia Isabel PI

Publication Date: 2021

Variant appearance in text: rs28929474

PubMed Link: 33790624

Variant Present in the following documents:

• Main text
• tacg-14-173.pdf

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Genome-wide association study of circulating levels of glucagon during an oral glucose tolerance test.

Bmc Medical Genomics

Jonsson, Anna A; Stinson, Sara E SE; Torekov, Signe S SS; Clausen, Tine D TD; Færch, Kristine K; Kelstrup, Louise L; Grarup, Niels N; Mathiesen, Elisabeth R ER; Damm, Peter P; Witte, Daniel R DR; Jørgensen, Marit E ME; Pedersen, Oluf O; Holst, Jens Juul JJ; Hansen, Torben T

Publication Date: 2021-01-06

Variant appearance in text: rs28929474

PubMed Link: 33407418

Variant Present in the following documents:

• Main text
• 12920_2020_Article_841.pdf

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The Clinical Utility of Determining the Allelic Background of Mutations Causing Alpha-1 Antitrypsin Deficiency: The Case with the Null Variant Q0(Mattawa)/Q0(Ourém).

Chronic Obstructive Pulmonary Diseases (Miami, Fla.)

Bellemare, Judith J; Gaudreault, Nathalie N; Valette, Kim K; Belmonte, Irene I; Nuñez, Alexa A; Miravitlles, Marc M; Maltais, François F; Bossé, Yohan Y

Publication Date: 2021-01

Variant appearance in text: rs28929474

PubMed Link: 33150777

Variant Present in the following documents:

• Main text

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Genome-Wide Gene-by-Smoking Interaction Study of Chronic Obstructive Pulmonary Disease.

American Journal Of Epidemiology

Kim, Woori W; Prokopenko, Dmitry D; Sakornsakolpat, Phuwanat P; Hobbs, Brian D BD; Lutz, Sharon M SM; Hokanson, John E JE; Wain, Louise V LV; Melbourne, Carl A CA; Shrine, Nick N; Tobin, Martin D MD; Silverman, Edwin K EK; Cho, Michael H MH; Beaty, Terri H TH

Publication Date: 2021-05-04

Variant appearance in text: rs28929474

PubMed Link: 33106845

Variant Present in the following documents:

• Main text

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The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.

Communications Biology

Pei, Yu-Fang YF; Liu, Yao-Zhong YZ; Yang, Xiao-Lin XL; Zhang, Hong H; Feng, Gui-Juan GJ; Wei, Xin-Tong XT; Zhang, Lei L

Publication Date: 2020-10-23

Variant appearance in text: rs28929474

PubMed Link: 33097823

Variant Present in the following documents:

• Main text
• 42003_2020_Article_1334.pdf

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Ethnic differences in alpha-1 antitrypsin deficiency allele frequencies may partially explain national differences in COVID-19 fatality rates.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Shapira, Guy G; Shomron, Noam N; Gurwitz, David D

Publication Date: 2020-11

Variant appearance in text: rs28929474

PubMed Link: 32960480

Variant Present in the following documents:

• Main text

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: SERPINA1: E366Q

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes.

The European Respiratory Journal

Nakanishi, Tomoko T; Forgetta, Vincenzo V; Handa, Tomohiro T; Hirai, Toyohiro T; Mooser, Vincent V; Lathrop, G Mark GM; Cookson, William O C M WOCM; Richards, J Brent JB

Publication Date: 2020-12

Variant appearance in text: rs28929474

PubMed Link: 32675199

Variant Present in the following documents:

• Main text

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Why is Disease Penetration So Variable? Role of Genetic Modifiers of Lung Function in Alpha-1 Antitrypsin Deficiency.

Chronic Obstructive Pulmonary Diseases (Miami, Fla.)

Hobbs, Brian D BD; Cho, Michael H MH

Publication Date: 2020-07

Variant appearance in text: rs28929474

PubMed Link: 32621460

Variant Present in the following documents:

• Main text

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