Publications:

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Translational Analysis of Moderate to Severe Asthma GWAS Signals Into Candidate Causal Genes and Their Functional, Tissue-Dependent and Disease-Related Associations.

Frontiers In Allergy

Portelli, Michael A MA; Rakkar, Kamini K; Hu, Sile S; Guo, Yike Y; Adcock, Ian M IM; Sayers, Ian I

Publication Date: 2021

Variant appearance in text: rs907091

PubMed Link: 35386986

Variant Present in the following documents:

• Main text
• falgy-02-738741.pdf

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Genetic variants associated mRNA stability in lung.

Bmc Genomics

Li, Jian-Rong JR; Tang, Mabel M; Li, Yafang Y; Amos, Christopher I CI; Cheng, Chao C

Publication Date: 2022-03-11

Variant appearance in text: rs907091

PubMed Link: 35272635

Variant Present in the following documents:

• Main text
• 12864_2022_Article_8405.pdf

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Genetics, Epigenetics, Cellular Immunology, and Gut Microbiota: Emerging Links With Graves' Disease.

Frontiers In Cell And Developmental Biology

Zhou, Fangyu F; Wang, Xin X; Wang, Lingjun L; Sun, Xin X; Tan, Guiqin G; Wei, Wenwen W; Zheng, Guangbing G; Ma, Xiaomin X; Tian, Dan D; Yu, Hongsong H

Publication Date: 2021

Variant appearance in text: rs907091

PubMed Link: 35059400

Variant Present in the following documents:

• Main text
• fcell-09-794912.pdf

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Heritability Enrichment of Immunoglobulin G N-Glycosylation in Specific Tissues.

Frontiers In Immunology

Li, Xingang X; Wang, Hao H; Zhu, Yahong Y; Cao, Weijie W; Song, Manshu M; Wang, Youxin Y; Hou, Haifeng H; Lang, Minglin M; Guo, Xiuhua X; Tan, Xuerui X; Han, Jingdong J JJ; Wang, Wei W

Publication Date: 2021

Variant appearance in text: rs907091

PubMed Link: 34804021

Variant Present in the following documents:

• Main text
• fimmu-12-741705.pdf

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Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics

Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS

Publication Date: 2021-07

Variant appearance in text: rs907091

PubMed Link: 34127860

Variant Present in the following documents:

• EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14

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Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics

Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS

Publication Date: 2021-07

Variant appearance in text: rs907091

PubMed Link: 34127860

Variant Present in the following documents:

• EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14

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: rs907091

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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The ZNF76 rs10947540 polymorphism associated with systemic lupus erythematosus risk in Chinese populations.

Scientific Reports

Qi, Yuan-Yuan YY; Cui, Yan Y; Lang, Hui H; Zhai, Ya-Ling YL; Zhang, Xiao-Xue XX; Wang, Xiao-Yang XY; Liu, Xin-Ran XR; Zhao, Ya-Fei YF; Ning, Xiang-Hui XH; Zhao, Zhan-Zheng ZZ

Publication Date: 2021-03-04

Variant appearance in text: rs907091

PubMed Link: 33664275

Variant Present in the following documents:

• Main text
• 41598_2021_Article_84236.pdf

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Genome-wide search for genes affecting the age at diagnosis of type 1 diabetes.

Journal Of Internal Medicine

Syreeni, A A; Sandholm, N N; Sidore, C C; Cucca, F F; Haukka, J J; Harjutsalo, V V; Groop, P-H PH; ,

Publication Date: 2021-05

Variant appearance in text: rs907091

PubMed Link: 33179336

Variant Present in the following documents:

• Main text
• JOIM-289-662.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: rs907091

PubMed Link: 32879140

Variant Present in the following documents:

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

View BVdb publication page

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Interweaving Between Genetic and Epigenetic Studies on Childhood Asthma.

Epigenetics Insights

Rathod, Aniruddha A; Duan, Jiasong J; Zhang, Hongmei H; Holloway, John W JW; Ewart, Susan S; Arshad, S Hasan SH; Karmaus, Wilfried W

Publication Date: 2020

Variant appearance in text: rs907091

PubMed Link: 32754683

Variant Present in the following documents:

• Main text
• 10.1177_2516865720923395.pdf

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CRISPRi-mediated functional analysis of lung disease-associated loci at non-coding regions.

Nar Genomics And Bioinformatics

Stuart, William D WD; Guo, Minzhe M; Fink-Baldauf, Iris M IM; Coleman, Alan M AM; Clancy, John P JP; Mall, Marcus A MA; Lim, Foong-Yen FY; Brewington, John J JJ; Maeda, Yutaka Y

Publication Date: 2020-06

Variant appearance in text: rs907091

PubMed Link: 32500120

Variant Present in the following documents:

• Main text
• lqaa036.pdf

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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: rs907091

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

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Integrative Analysis Identifies Genetic Variants Associated With Autoimmune Diseases Affecting Putative MicroRNA Binding Sites.

Frontiers In Genetics

de Almeida, Rodrigo C RC; Chagas, Vinícius S VS; Castro, Mauro A A MAA; Petzl-Erler, Maria L ML

Publication Date: 2018

Variant appearance in text: rs907091

PubMed Link: 29755505

Variant Present in the following documents:

• Main text
• fgene-09-00139.pdf

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Genetic variants in mRNA untranslated regions.

Wiley Interdisciplinary Reviews. Rna

Steri, Maristella M; Idda, M Laura ML; Whalen, Michael B MB; Orrù, Valeria V

Publication Date: 2018-07

Variant appearance in text: rs907091

PubMed Link: 29582564

Variant Present in the following documents:

• Main text

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IW-Scoring: an Integrative Weighted Scoring framework for annotating and prioritizing genetic variations in the noncoding genome.

Nucleic Acids Research

Wang, Jun J; Dayem Ullah, Abu Z AZ; Chelala, Claude C

Publication Date: 2018-05-04

Variant appearance in text: rs907091

PubMed Link: 29390075

Variant Present in the following documents:

• Main text
• gky057.pdf

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A decade of research on the 17q12-21 asthma locus: Piecing together the puzzle.

The Journal Of Allergy And Clinical Immunology

Stein, Michelle M MM; Thompson, Emma E EE; Schoettler, Nathan N; Helling, Britney A BA; Magnaye, Kevin M KM; Stanhope, Catherine C; Igartua, Catherine C; Morin, Andréanne A; Washington, Charles C; Nicolae, Dan D; Bønnelykke, Klaus K; Ober, Carole C

Publication Date: 2018-09

Variant appearance in text: rs907091

PubMed Link: 29307657

Variant Present in the following documents:

• Main text
• nihms-1506022.pdf

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs907091

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4
• oncotarget-08-95841-s002.xlsx, sheet 1

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Identification of the functional variant driving ORMDL3 and GSDMB expression in human chromosome 17q12-21 in primary biliary cholangitis.

Scientific Reports

Hitomi, Yuki Y; Kojima, Kaname K; Kawashima, Minae M; Kawai, Yosuke Y; Nishida, Nao N; Aiba, Yoshihiro Y; Yasunami, Michio M; Nagasaki, Masao M; Nakamura, Minoru M; Tokunaga, Katsushi K

Publication Date: 2017-06-06

Variant appearance in text: rs907091

PubMed Link: 28588209

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exploring genetic associations with ceRNA regulation in the human genome.

Nucleic Acids Research

Li, Mulin Jun MJ; Zhang, Jian J; Liang, Qian Q; Xuan, Chenghao C; Wu, Jiexing J; Jiang, Peng P; Li, Wei W; Zhu, Yun Y; Wang, Panwen P; Fernandez, Daniel D; Shen, Yujun Y; Chen, Yiwen Y; Kocher, Jean-Pierre A JA; Yu, Ying Y; Sham, Pak Chung PC; Wang, Junwen J; Liu, Jun S JS; Liu, X Shirley XS

Publication Date: 2017-06-02

Variant appearance in text: rs907091

PubMed Link: 28472449

Variant Present in the following documents:

• Main text
• gkx331.pdf

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A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.

Nature Communications

Qiu, Fang F; Tang, Ruqi R; Zuo, Xianbo X; Shi, Xingjuan X; Wei, Yiran Y; Zheng, Xiaodong X; Dai, Yaping Y; Gong, Yuhua Y; Wang, Lan L; Xu, Ping P; Zhu, Xiang X; Wu, Jian J; Han, Chongxu C; Gao, Yueqiu Y; Zhang, Kui K; Jiang, Yuzhang Y; Zhou, Jianbo J; Shao, Youlin Y; Hu, Zhigang Z; Tian, Ye Y; Zhang, Haiyan H; Dai, Na N; Liu, Lei L; Wu, Xudong X; Zhao, Weifeng W; Zhang, Xiaomin X; Zang, Zhidong Z; Nie, Jinshan J; Sun, Weihao W; Zhao, Yi Y; Mao, Yuan Y; Jiang, Po P; Ji, Hualiang H; Dong, Qing Q; Li, Junming J; Li, Zhenzhong Z; Bai, Xinli X; Li, Li L; Lin, Maosong M; Dong, Ming M; Li, Jinxin J; Zhu, Ping P; Wang, Chan C; Zhang, Yanqiu Y; Jiang, Peng P; Wang, Yujue Y; Jawed, Rohil R; Xu, Jing J; Zhang, Yu Y; Wang, Qixia Q; Yang, Yue Y; Yang, Fan F; Lian, Min M; Jiang, Xiang X; Xiao, Xiao X; Li, Yanmei Y; Fang, Jingyuan J; Qiu, Dekai D; Zhu, Zhen Z; Qiu, Hong H; Zhang, Jianqiong J; Tian, Wenyan W; Chen, Sufang S; Jiang, Ling L; Ji, Bing B; Li, Ping P; Chen, Guochang G; Wu, Tianxue T; Sun, Yan Y; Yu, Jianjiang J; Tang, Huijun H; He, Michun M; Xia, Min M; Pei, Hao H; Huang, Lihua L; Qing, Zhuye Z; Wu, Jianfang J; Huang, Qinghai Q; Han, Junhai J; Xie, Wei W; Sun, Zhongsheng Z; Guo, Jian J; He, Gengsheng G; Eric Gershwin, M M; Lian, Zhexiong Z; Liu, Xiang X; Seldin, Michael F MF; Liu, Xiangdong X; Chen, Weichang W; Ma, Xiong X

Publication Date: 2017-04-20

Variant appearance in text: rs907091

PubMed Link: 28425483

Variant Present in the following documents:

• ncomms14828-s1.pdf

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Allelic imbalance of multiple sclerosis susceptibility genes IKZF3 and IQGAP1 in human peripheral blood.

Bmc Genetics

Keshari, Pankaj K PK; Harbo, Hanne F HF; Myhr, Kjell-Morten KM; Aarseth, Jan H JH; Bos, Steffan D SD; Berge, Tone T

Publication Date: 2016-04-14

Variant appearance in text: rs907091

PubMed Link: 27080863

Variant Present in the following documents:

• Main text
• 12863_2016_Article_367.pdf

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The immunogenetics of primary biliary cirrhosis: A comprehensive review.

Journal Of Autoimmunity

Webb, G J GJ; Siminovitch, K A KA; Hirschfield, G M GM

Publication Date: 2015-11

Variant appearance in text: rs907091

PubMed Link: 26250073

Variant Present in the following documents:

• Main text

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Strategies for fine-mapping complex traits.

Human Molecular Genetics

Spain, Sarah L SL; Barrett, Jeffrey C JC

Publication Date: 2015-10-15

Variant appearance in text: rs907091

PubMed Link: 26157023

Variant Present in the following documents:

• Main text
• ddv260.pdf

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Genetic and epigenetic fine mapping of causal autoimmune disease variants.

Nature

Farh, Kyle Kai-How KK; Marson, Alexander A; Zhu, Jiang J; Kleinewietfeld, Markus M; Housley, William J WJ; Beik, Samantha S; Shoresh, Noam N; Whitton, Holly H; Ryan, Russell J H RJ; Shishkin, Alexander A AA; Hatan, Meital M; Carrasco-Alfonso, Marlene J MJ; Mayer, Dita D; Luckey, C John CJ; Patsopoulos, Nikolaos A NA; De Jager, Philip L PL; Kuchroo, Vijay K VK; Epstein, Charles B CB; Daly, Mark J MJ; Hafler, David A DA; Bernstein, Bradley E BE

Publication Date: 2015-02-19

Variant appearance in text: rs907091

PubMed Link: 25363779

Variant Present in the following documents:

• Main text

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Association between polymorphisms of the IKZF3 gene and systemic lupus erythematosus in a Chinese Han population.

Plos One

Cai, Xinze X; Qiao, Ying Y; Diao, Cheng C; Xu, Xiaoxue X; Chen, Yang Y; Du, Shuyan S; Liu, Xudong X; Liu, Nan N; Yu, Shuang S; Chen, Dong D; Jiang, Yi Y

Publication Date: 2014

Variant appearance in text: rs907091

PubMed Link: 25271777

Variant Present in the following documents:

• Main text
• pone.0108661.pdf

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Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.

Human Molecular Genetics

Juran, Brian D BD; Hirschfield, Gideon M GM; Invernizzi, Pietro P; Atkinson, Elizabeth J EJ; Li, Yafang Y; Xie, Gang G; Kosoy, Roman R; Ransom, Michael M; Sun, Ye Y; Bianchi, Ilaria I; Schlicht, Erik M EM; Lleo, Ana A; Coltescu, Catalina C; Bernuzzi, Francesca F; Podda, Mauro M; Lammert, Craig C; Shigeta, Russell R; Chan, Landon L LL; Balschun, Tobias T; Marconi, Maurizio M; Cusi, Daniele D; Heathcote, E Jenny EJ; Mason, Andrew L AL; Myers, Robert P RP; Milkiewicz, Piotr P; Odin, Joseph A JA; Luketic, Velimir A VA; Bacon, Bruce R BR; Bodenheimer, Henry C HC; Liakina, Valentina V; Vincent, Catherine C; Levy, Cynthia C; Franke, Andre A; Gregersen, Peter K PK; Bossa, Fabrizio F; Gershwin, M Eric ME; deAndrade, Mariza M; Amos, Christopher I CI; , ; Lazaridis, Konstantinos N KN; Seldin, Michael F MF; Siminovitch, Katherine A KA

Publication Date: 2012-12-01

Variant appearance in text: rs907091

PubMed Link: 22936693

Variant Present in the following documents:

• Main text

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A genome-wide survey for SNPs altering microRNA seed sites identifies functional candidates in GWAS.

Bmc Genomics

Richardson, Kris K; Lai, Chao-Qiang CQ; Parnell, Laurence D LD; Lee, Yu-Chi YC; Ordovas, Jose M JM

Publication Date: 2011-10-13

Variant appearance in text: rs907091

PubMed Link: 21995669

Variant Present in the following documents:

• Main text
• 1471-2164-12-504.pdf

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A sequence variant on 17q21 is associated with age at onset and severity of asthma.

European Journal Of Human Genetics : Ejhg

Halapi, Eva E; Gudbjartsson, Daniel F DF; Jonsdottir, Gudrun M GM; Bjornsdottir, Unnur S US; Thorleifsson, Gudmar G; Helgadottir, Hafdis H; Williams, Carolyn C; Koppelman, Gerard H GH; Heinzmann, Andrea A; Boezen, H Marike HM; Jonasdottir, Aslaug A; Blondal, Thorarinn T; Gudjonsson, Sigurjon A SA; Jonasdottir, Adalbjorg A; Thorlacius, Theodora T; Henry, Amanda P AP; Altmueller, Janine J; Krueger, Marcus M; Shin, Hyoung Doo HD; Uh, Soo-Taek ST; Cheong, Hyun Sub HS; Jonsdottir, Brynja B; Ludviksson, Bjorn R BR; Ludviksdottir, Dora D; Gislason, David D; Park, Choon-Sik CS; Deichmann, Klaus K; Thompson, Philip J PJ; Wjst, Matthias M; Hall, Ian P IP; Postma, Dirkje S DS; Gislason, Thorarinn T; Kong, Augustine A; Jonsdottir, Ingileif I; Thorsteinsdottir, Unnur U; Stefansson, Kari K

Publication Date: 2010-08

Variant appearance in text: rs907091

PubMed Link: 20372189

Variant Present in the following documents:

• Main text

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Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease.

American Journal Of Human Genetics

Verlaan, Dominique J DJ; Berlivet, Soizik S; Hunninghake, Gary M GM; Madore, Anne-Marie AM; Larivière, Mathieu M; Moussette, Sanny S; Grundberg, Elin E; Kwan, Tony T; Ouimet, Manon M; Ge, Bing B; Hoberman, Rose R; Swiatek, Marcin M; Dias, Joana J; Lam, Kevin C L KC; Koka, Vonda V; Harmsen, Eef E; Soto-Quiros, Manuel M; Avila, Lydiana L; Celedón, Juan C JC; Weiss, Scott T ST; Dewar, Ken K; Sinnett, Daniel D; Laprise, Catherine C; Raby, Benjamin A BA; Pastinen, Tomi T; Naumova, Anna K AK

Publication Date: 2009-09

Variant appearance in text: rs907091

PubMed Link: 19732864

Variant Present in the following documents:

• Main text

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HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer.

British Journal Of Cancer

Benusiglio, P R PR; Pharoah, P D PD; Smith, P L PL; Lesueur, F F; Conroy, D D; Luben, R N RN; Dew, G G; Jordan, C C; Dunning, A A; Easton, D F DF; Ponder, B A J BA

Publication Date: 2006-12-18

Variant appearance in text: rs907091

PubMed Link: 17117180

Variant Present in the following documents:

• Main text
• 95-6603473a.pdf

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