Publications:

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Multitrait genome-wide analyses identify new susceptibility loci and candidate drugs to primary sclerosing cholangitis.

Nature Communications

Han, Younghun Y; Byun, Jinyoung J; Zhu, Catherine C; Sun, Ryan R; Roh, Julia Y JY; Cordell, Heather J HJ; Lee, Hyun-Sung HS; Shaw, Vikram R VR; Kang, Sung Wook SW; Razjouyan, Javad J; Cooley, Matthew A MA; Hassan, Manal M MM; Siminovitch, Katherine A KA; Folseraas, Trine T; Ellinghaus, David D; Bergquist, Annika A; Rushbrook, Simon M SM; Franke, Andre A; Karlsen, Tom H TH; Lazaridis, Konstantinos N KN; , ; McGlynn, Katherine A KA; Roberts, Lewis R LR; Amos, Christopher I CI

Publication Date: 2023-02-24

Variant appearance in text: CFB: R32G; rs12614

PubMed Link: 36828809

Variant Present in the following documents:

• 41467_2023_36678_MOESM12_ESM.xlsx, sheet 1

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CD55 Variant Associated with Pegylated-interferon α Therapy Response in HBeAg-positive Chronic Hepatitis B Patients.

Journal Of Clinical And Translational Hepatology

Chen, Jiaxuan J; Lou, Shuang S; Chen, Haitao H; Zhou, Bin B; Sun, Jian J; Hou, Jinlin J; Jiang, De-Ke DK

Publication Date: 2023-04-28

Variant appearance in text: rs12614

PubMed Link: 36643051

Variant Present in the following documents:

• Main text
• JCTH-11-295.pdf

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A functional variant of CD40 modulates clearance of hepatitis B virus in hepatocytes via regulation of the ANXA2/CD40/BST2 axis.

Human Molecular Genetics

Chen, Jiaxuan J; Chen, Haitao H; Mai, Haoming H; Lou, Shuang S; Luo, Mengqi M; Xie, Haisheng H; Zhou, Bin B; Hou, Jinlin J; Jiang, De-Ke DK

Publication Date: 2022-11-16

Variant appearance in text: rs12614

PubMed Link: 36383401

Variant Present in the following documents:

• Main text
• ddac284.pdf

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Heterogeneity of immune control in chronic hepatitis B virus infection: Clinical implications on immunity with interferon-α treatment and retreatment.

World Journal Of Gastroenterology

Yin, Guo-Qing GQ; Chen, Ke-Ping KP; Gu, Xiao-Chun XC

Publication Date: 2022-10-28

Variant appearance in text: rs12614

PubMed Link: 36353205

Variant Present in the following documents:

• WJG-28-5784.pdf

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An extremes of phenotype approach confirms significant genetic heterogeneity in patients with ulcerative colitis.

Journal Of Crohn'S & Colitis

Mortlock, Sally S; Lord, Anton A; Montgomery, Grant G; Zakrzewski, Martha M; Simms, Lisa A LA; Krishnaprasad, Krupa K; Hanigan, Katherine K; Doecke, James D JD; Walsh, Alissa A; Lawrance, Ian C IC; Bampton, Peter A PA; Andrews, Jane M JM; Mahy, Gillian G; Connor, Susan J SJ; Sparrow, Miles P MP; Bell, Sally S; Florin, Timothy H TH; Begun, Jakob J; Gearry, Richard B RB; Radford-Smith, Graham L GL

Publication Date: 2022-09-16

Variant appearance in text: rs12614

PubMed Link: 36111848

Variant Present in the following documents:

• Main text
• jjac121.pdf

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Conventional and genetic risk factors for chronic Hepatitis B virus infection in a community-based study of 0.5 million Chinese adults.

Scientific Reports

Hamilton, Elizabeth E; Yang, Ling L; Mentzer, Alexander J AJ; Guo, Yu Y; Chen, Yiping Y; Lv, Jun J; Fletcher, Robert R; Wright, Neil N; Lin, Kuang K; Walters, Robin R; Kartsonaki, Christiana C; Yang, Yingcai Y; Burgess, Sushila S; Sansome, Sam S; Li, Liming L; Millwood, Iona Y IY; Chen, Zhengming Z

Publication Date: 2022-07-15

Variant appearance in text: rs12614

PubMed Link: 35840665

Variant Present in the following documents:

• Main text

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Biomarkers as Predictive Factors of Anti-VEGF Response.

Biomedicines

Bobadilla, Miriam M; Pariente, Ana A; Oca, Ana I AI; Peláez, Rafael R; Pérez-Sala, Álvaro Á; Larráyoz, Ignacio M IM

Publication Date: 2022-04-26

Variant appearance in text: rs12614

PubMed Link: 35625740

Variant Present in the following documents:

• Main text
• biomedicines-10-01003.pdf

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A Missense Variant in Granulysin is Associated with the Efficacy of Pegylated-Interferon-Alpha Therapy in Chinese Patients with HBeAg-Positive Chronic Hepatitis B.

Pharmacogenomics And Personalized Medicine

Li, Jing J; Chen, Haitao H; Chen, Jiaxuan J; Zhou, Bin B; Hou, Jinlin J; Jiang, De-Ke DK

Publication Date: 2021

Variant appearance in text: rs12614

PubMed Link: 34848996

Variant Present in the following documents:

• Main text
• pgpm-14-1505.pdf

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Associations between the Complement System and Choroidal Neovascularization in Wet Age-Related Macular Degeneration.

International Journal Of Molecular Sciences

Jensen, Emilie Grarup EG; Jakobsen, Thomas Stax TS; Thiel, Steffen S; Askou, Anne Louise AL; Corydon, Thomas J TJ

Publication Date: 2020-12-21

Variant appearance in text: rs12614

PubMed Link: 33371261

Variant Present in the following documents:

• Main text
• ijms-21-09752.pdf

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Associations of the intestinal microbiome with the complement system in neovascular age-related macular degeneration.

Npj Genomic Medicine

Zysset-Burri, Denise C DC; Keller, Irene I; Berger, Lieselotte E LE; Largiadèr, Carlo R CR; Wittwer, Matthias M; Wolf, Sebastian S; Zinkernagel, Martin S MS

Publication Date: 2020

Variant appearance in text: rs12614

PubMed Link: 32922859

Variant Present in the following documents:

• Main text
• 41525_2020_141_MOESM1_ESM.pdf
• 41525_2020_Article_141.pdf

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Host Genetic Determinants of Hepatitis B Virus Infection.

Frontiers In Genetics

Zhang, Zhenhua Z; Wang, Changtai C; Liu, Zhongping Z; Zou, Guizhou G; Li, Jun J; Lu, Mengji M

Publication Date: 2019

Variant appearance in text: rs12614

PubMed Link: 31475028

Variant Present in the following documents:

• Main text
• fgene-10-00696.pdf

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Common Genetic Variants in the Complement System and their Potential Link with Disease Susceptibility and Outcome of Invasive Bacterial Infection.

Journal Of Innate Immunity

van den Broek, Bryan B; van der Flier, Michiel M; de Groot, Ronald R; de Jonge, Marien I MI; Langereis, Jeroen D JD

Publication Date: 2020

Variant appearance in text: rs12614

PubMed Link: 31269507

Variant Present in the following documents:

• Main text

View BVdb publication page

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Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine

Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH

Publication Date: 2018-12

Variant appearance in text: rs12614

PubMed Link: 30378292

Variant Present in the following documents:

• CAM4-7-6308-s006.xlsx, sheet 1

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Progression of Geographic Atrophy in Age-related Macular Degeneration: AREDS2 Report Number 16.

Ophthalmology

Keenan, Tiarnan D TD; Agrón, Elvira E; Domalpally, Amitha A; Clemons, Traci E TE; van Asten, Freekje F; Wong, Wai T WT; Danis, Ronald G RG; Sadda, SriniVas S; Rosenfeld, Philip J PJ; Klein, Michael L ML; Ratnapriya, Rinki R; Swaroop, Anand A; Ferris, Frederick L FL; Chew, Emily Y EY; ,

Publication Date: 2018-12

Variant appearance in text: rs12614

PubMed Link: 30060980

Variant Present in the following documents:

• Main text

View BVdb publication page

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Host genetic factors in predicting response status in chronic hepatitis B patients discontinuing nucleos(t)ide analogs.

Saudi Journal Of Gastroenterology : Official Journal Of The Saudi Gastroenterology Association

Li, Tao T; Liu, Feng F; Zhang, Lixin L; Ye, Qian Q; Fan, Xiaoping X; Xue, Yan Y; Wang, Lei L

Publication Date: 2018

Variant appearance in text: rs12614

PubMed Link: 29451182

Variant Present in the following documents:

• Main text

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A global perspective on hepatitis B-related single nucleotide polymorphisms and evolution during human migration.

Hepatology Communications

Tai, Dar-In DI; Jeng, Wen-Juei WJ; Lin, Chun-Yen CY

Publication Date: 2017-12

Variant appearance in text: rs12614

PubMed Link: 29404438

Variant Present in the following documents:

• Main text

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Advances in the genome-wide association study of chronic hepatitis B susceptibility in Asian population.

European Journal Of Medical Research

Qiu, Bing B; Jiang, Wei W; Olyaee, Mojtaba M; Shimura, Kenji K; Miyakawa, Akihiro A; Hu, Huijing H; Zhu, Yongcui Y; Tang, Lixin L

Publication Date: 2017-12-28

Variant appearance in text: rs12614

PubMed Link: 29282121

Variant Present in the following documents:

• Main text
• 40001_2017_Article_288.pdf

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Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections.

Nature Communications

Tian, Chao C; Hromatka, Bethann S BS; Kiefer, Amy K AK; Eriksson, Nicholas N; Noble, Suzanne M SM; Tung, Joyce Y JY; Hinds, David A DA

Publication Date: 2017-09-19

Variant appearance in text: rs12614

PubMed Link: 28928442

Variant Present in the following documents:

• 41467_2017_257_MOESM1_ESM.pdf

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The MHC locus and genetic susceptibility to autoimmune and infectious diseases.

Genome Biology

Matzaraki, Vasiliki V; Kumar, Vinod V; Wijmenga, Cisca C; Zhernakova, Alexandra A

Publication Date: 2017-04-27

Variant appearance in text: rs12614

PubMed Link: 28449694

Variant Present in the following documents:

• Main text
• 13059_2017_Article_1207.pdf

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Comprehensive assessment showed no associations of variants at the SLC10A1 locus with susceptibility to persistent HBV infection among Southern Chinese.

Scientific Reports

Zhang, Ying Y; Li, Yuanfeng Y; Wu, Miantao M; Cao, Pengbo P; Liu, Xiaomin X; Ren, Qian Q; Zhai, Yun Y; Xie, Bobo B; Hu, Yanling Y; Hu, Zhibin Z; Bei, Jinxin J; Ping, Jie J; Liu, Xinyi X; Yu, Yinghua Y; Guo, Bingqian B; Lu, Hui H; Liu, Guanjun G; Zhang, Haitao H; Cui, Ying Y; Mo, Zengnan Z; Shen, Hongbing H; Zeng, Yi-Xin YX; He, Fuchu F; Zhang, Hongxing H; Zhou, Gangqiao G

Publication Date: 2017-04-21

Variant appearance in text: rs12614

PubMed Link: 28429786

Variant Present in the following documents:

• Main text
• srep46490.pdf

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Genome-wide association study identifies 8p21.3 associated with persistent hepatitis B virus infection among Chinese.

Nature Communications

Li, Yuanfeng Y; Si, Lanlan L; Zhai, Yun Y; Hu, Yanling Y; Hu, Zhibin Z; Bei, Jin-Xin JX; Xie, Bobo B; Ren, Qian Q; Cao, Pengbo P; Yang, Fei F; Song, Qingfeng Q; Bao, Zhiyu Z; Zhang, Haitao H; Han, Yuqing Y; Wang, Zhifu Z; Chen, Xi X; Xia, Xia X; Yan, Hongbo H; Wang, Rui R; Zhang, Ying Y; Gao, Chengming C; Meng, Jinfeng J; Tu, Xinyi X; Liang, Xinqiang X; Cui, Ying Y; Liu, Ying Y; Wu, Xiaopan X; Li, Zhuo Z; Wang, Huifen H; Li, Zhaoxia Z; Hu, Bo B; He, Minghui M; Gao, Zhibo Z; Xu, Xiaobing X; Ji, Hongzan H; Yu, Chaohui C; Sun, Yi Y; Xing, Baocai B; Yang, Xiaobo X; Zhang, Haiying H; Tan, Aihua A; Wu, Chunlei C; Jia, Weihua W; Li, Shengping S; Zeng, Yi-Xin YX; Shen, Hongbing H; He, Fuchu F; Mo, Zengnan Z; Zhang, Hongxing H; Zhou, Gangqiao G

Publication Date: 2016-05-31

Variant appearance in text: rs12614

PubMed Link: 27244555

Variant Present in the following documents:

• Main text
• ncomms11664.pdf
• ncomms11664-s1.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs12614

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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IgA measurements in over 12 000 Swedish twins reveal sex differential heritability and regulatory locus near CD30L.

Human Molecular Genetics

Viktorin, Alexander A; Frankowiack, Marcel M; Padyukov, Leonid L; Chang, Zheng Z; Melén, Erik E; Sääf, Annika A; Kull, Inger I; Klareskog, Lars L; Hammarström, Lennart L; Magnusson, Patrik K E PK

Publication Date: 2014-08-01

Variant appearance in text: rs12614

PubMed Link: 24676358

Variant Present in the following documents:

• Main text

View BVdb publication page

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Complement factor B mutations in atypical hemolytic uremic syndrome-disease-relevant or benign?

Journal Of The American Society Of Nephrology : Jasn

Marinozzi, Maria Chiara MC; Vergoz, Laura L; Rybkine, Tania T; Ngo, Stephanie S; Bettoni, Serena S; Pashov, Anastas A; Cayla, Mathieu M; Tabarin, Fanny F; Jablonski, Mathieu M; Hue, Christophe C; Smith, Richard J RJ; Noris, Marina M; Halbwachs-Mecarelli, Lise L; Donadelli, Roberta R; Fremeaux-Bacchi, Veronique V; Roumenina, Lubka T LT

Publication Date: 2014-09

Variant appearance in text: rs12614

PubMed Link: 24652797

Variant Present in the following documents:

• Main text

View BVdb publication page

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Complement alternative pathway genetic variation and Dengue infection in the Thai population.

Clinical And Experimental Immunology

Kraivong, R R; Vasanawathana, S S; Limpitikul, W W; Malasit, P P; Tangthawornchaikul, N N; Botto, M M; Screaton, G R GR; Mongkolsapaya, J J; Pickering, M C MC

Publication Date: 2013-11

Variant appearance in text: rs12614

PubMed Link: 23919682

Variant Present in the following documents:

• Main text
• cei0174-0326.pdf

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Refining the association of MHC with multiple sclerosis in African Americans.

Human Molecular Genetics

McElroy, Joseph P JP; Cree, Bruce A C BA; Caillier, Stacy J SJ; Gregersen, Peter K PK; Herbert, Joseph J; Khan, Omar A OA; Freudenberg, Jan J; Lee, Annette A; Bridges, S Louis SL; Hauser, Stephen L SL; Oksenberg, Jorge R JR; Gourraud, Pierre-Antoine PA

Publication Date: 2010-08-01

Variant appearance in text: rs12614

PubMed Link: 20466734

Variant Present in the following documents:

• Main text

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The major histocompatibility complex conserved extended haplotype 8.1 in AIDS-related non-Hodgkin lymphoma.

Journal Of Acquired Immune Deficiency Syndromes (1999)

Aissani, Brahim B; Ogwaro, Kisani M KM; Shrestha, Sadeep S; Tang, Jianming J; Breen, Elizabeth C EC; Wong, Hui-Lee HL; Jacobson, Lisa P LP; Rabkin, Charles S CS; Ambinder, Richard F RF; Martinez-Maza, Otoniel O; Kaslow, Richard A RA

Publication Date: 2009-10-01

Variant appearance in text: rs12614

PubMed Link: 19654554

Variant Present in the following documents:

• Main text

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C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes.

Plos One

Jakobsdottir, Johanna J; Conley, Yvette P YP; Weeks, Daniel E DE; Ferrell, Robert E RE; Gorin, Michael B MB

Publication Date: 2008-05-21

Variant appearance in text: rs12614

PubMed Link: 18493315

Variant Present in the following documents:

• pone.0002199.s005.pdf

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