TIMMDC1 c.360+227G>A

Variant ID: 3-119219934-G-A

NM_016589.3(TIMMDC1):c.360+227G>A

This variant was identified in 34 publications

View GRCh38 version.




Publications:


Novel HLA allele associations with susceptibility, staging, symptomatic state, autoimmune hepatitis and hepatocellular carcinoma events for primary biliary cholangitis in the Japanese population.

Frontiers In Immunology
Khor, Seik-Soon SS; Ueno, Kazuko K; Nishida, Nao N; Kawashima, Minae M; Kawai, Yosuke Y; Aiba, Yoshihiro Y; Hitomi, Yuki Y; Nagasaki, Masao M; Nakamura, Minoru M; Tokunaga, Katsushi K
Publication Date: 2023

Variant appearance in text: rs2293370
PubMed Link: 37325616
Variant Present in the following documents:
  • Main text
  • fimmu-14-1151502.pdf
View BVdb publication page



New insights on the role of human leukocyte antigen complex in primary biliary cholangitis.

Frontiers In Immunology
Mulinacci, Giacomo G; Palermo, Andrea A; Gerussi, Alessio A; Asselta, Rosanna R; Gershwin, Merrill Eric ME; Invernizzi, Pietro P
Publication Date: 2022

Variant appearance in text: rs2293370
PubMed Link: 36119102
Variant Present in the following documents:
  • Main text
  • fimmu-13-975115.pdf
View BVdb publication page



How genetic risk contributes to autoimmune liver disease.

Seminars In Immunopathology
Ellinghaus, David D
Publication Date: 2022-07

Variant appearance in text: rs2293370
PubMed Link: 35650446
Variant Present in the following documents:
  • Main text
  • 281_2022_Article_950.pdf
View BVdb publication page



APASL clinical practice guidance: the diagnosis and management of patients with primary biliary cholangitis.

Hepatology International
You, Hong H; Ma, Xiong X; Efe, Cumali C; Wang, Guiqiang G; Jeong, Sook-Hyang SH; Abe, Kazumichi K; Duan, Weijia W; Chen, Sha S; Kong, Yuanyuan Y; Zhang, Dong D; Wei, Lai L; Wang, Fu-Sheng FS; Lin, Han-Chieh HC; Yang, Jin Mo JM; Tanwandee, Tawesak T; Gani, Rino A RA; Payawal, Diana A DA; Sharma, Barjesh C BC; Hou, Jinlin J; Yokosuka, Osamu O; Dokmeci, A Kadir AK; Crawford, Darrell D; Kao, Jia-Horng JH; Piratvisuth, Teerha T; Suh, Dong Jin DJ; Lesmana, Laurentius A LA; Sollano, Jose J; Lau, George G; Sarin, Shiv K SK; Omata, Masao M; Tanaka, Atsushi A; Jia, Jidong J
Publication Date: 2022-02

Variant appearance in text: rs2293370
PubMed Link: 35119627
Variant Present in the following documents:
  • Main text
  • 12072_2021_Article_10276.pdf
View BVdb publication page



An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.

Journal Of Hepatology
Cordell, Heather J HJ; Fryett, James J JJ; Ueno, Kazuko K; Darlay, Rebecca R; Aiba, Yoshihiro Y; Hitomi, Yuki Y; Kawashima, Minae M; Nishida, Nao N; Khor, Seik-Soon SS; Gervais, Olivier O; Kawai, Yosuke Y; Nagasaki, Masao M; Tokunaga, Katsushi K; Tang, Ruqi R; Shi, Yongyong Y; Li, Zhiqiang Z; Juran, Brian D BD; Atkinson, Elizabeth J EJ; Gerussi, Alessio A; Carbone, Marco M; Asselta, Rosanna R; Cheung, Angela A; de Andrade, Mariza M; Baras, Aris A; Horowitz, Julie J; Ferreira, Manuel A R MAR; Sun, Dylan D; Jones, David E DE; Flack, Steven S; Spicer, Ann A; Mulcahy, Victoria L VL; Byan, Jinyoung J; Han, Younghun Y; Sandford, Richard N RN; Lazaridis, Konstantinos N KN; Amos, Christopher I CI; Hirschfield, Gideon M GM; Seldin, Michael F MF; Invernizzi, Pietro P; Siminovitch, Katherine A KA; Ma, Xiong X; Nakamura, Minoru M; Mells, George F GF; , ; , ; , ; , ; , ; , ; ,
Publication Date: 2021-09

Variant appearance in text: rs2293370
PubMed Link: 34033851
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.

Journal Of Hepatology
Cordell, Heather J HJ; Fryett, James J JJ; Ueno, Kazuko K; Darlay, Rebecca R; Aiba, Yoshihiro Y; Hitomi, Yuki Y; Kawashima, Minae M; Nishida, Nao N; Khor, Seik-Soon SS; Gervais, Olivier O; Kawai, Yosuke Y; Nagasaki, Masao M; Tokunaga, Katsushi K; Tang, Ruqi R; Shi, Yongyong Y; Li, Zhiqiang Z; Juran, Brian D BD; Atkinson, Elizabeth J EJ; Gerussi, Alessio A; Carbone, Marco M; Asselta, Rosanna R; Cheung, Angela A; de Andrade, Mariza M; Baras, Aris A; Horowitz, Julie J; Ferreira, Manuel A R MAR; Sun, Dylan D; Jones, David E DE; Flack, Steven S; Spicer, Ann A; Mulcahy, Victoria L VL; Byan, Jinyoung J; Han, Younghun Y; Sandford, Richard N RN; Lazaridis, Konstantinos N KN; Amos, Christopher I CI; Hirschfield, Gideon M GM; Seldin, Michael F MF; Invernizzi, Pietro P; Siminovitch, Katherine A KA; Ma, Xiong X; Nakamura, Minoru M; Mells, George F GF; , ; , ; , ; , ; , ; , ; ,
Publication Date: 2021-09

Variant appearance in text: rs2293370
PubMed Link: 34033851
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Identification of a novel genetic locus associated with immune-mediated thrombotic thrombocytopenic purpura.

Haematologica
Stubbs, Matthew J MJ; Coppo, Paul P; Cheshire, Chris C; Veyradier, Agnès A; Dufek, Stephanie S; Levine, Adam P AP; Thomas, Mari M; Patel, Vaksha V; Connolly, John O JO; Hubank, Michael M; Benhamou, Ygal Y; Galicier, Lionel L; Poullin, Pascale P; Kleta, Robert R; Gale, Daniel P DP; Stanescu, Horia H; Scully, Marie A MA
Publication Date: 2022-03-01

Variant appearance in text: rs2293370
PubMed Link: 33596643
Variant Present in the following documents:
  • 2020_274639_STUBBS_SUPPL.pdf
View BVdb publication page



Structure, function, and pathology of protein O-glucosyltransferases.

Cell Death & Disease
Mehboob, Muhammad Zubair MZ; Lang, Minglin M
Publication Date: 2021-01-12

Variant appearance in text: rs2293370
PubMed Link: 33436558
Variant Present in the following documents:
  • Main text
  • 41419_2020_Article_3314.pdf
View BVdb publication page



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: rs2293370
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Integrated GWAS and mRNA Microarray Analysis Identified IFNG and CD40L as the Central Upstream Regulators in Primary Biliary Cholangitis.

Hepatology Communications
Ueno, Kazuko K; Aiba, Yoshihiro Y; Hitomi, Yuki Y; Shimoda, Shinji S; Nakamura, Hitomi H; Gervais, Olivier O; Kawai, Yosuke Y; Kawashima, Minae M; Nishida, Nao N; Kohn, Seik-Soon SS; Kojima, Kaname K; Katsushima, Shinji S; Naganuma, Atsushi A; Sugi, Kazuhiro K; Komatsu, Tatsuji T; Mannami, Tomohiko T; Matsushita, Kouki K; Yoshizawa, Kaname K; Makita, Fujio F; Nikami, Toshiki T; Nishimura, Hideo H; Kouno, Hiroshi H; Kouno, Hirotaka H; Ohta, Hajime H; Komura, Takuya T; Tsuruta, Satoru S; Yamauchi, Kazuhiko K; Kobata, Tatsuro T; Kitasato, Amane A; Kuroki, Tamotsu T; Abiru, Seigo S; Nagaoka, Shinya S; Komori, Atsumasa A; Yatsuhashi, Hiroshi H; Migita, Kiyoshi K; Ohira, Hiromasa H; Tanaka, Atsushi A; Takikawa, Hajime H; Nagasaki, Masao M; Tokunaga, Katsushi K; Nakamura, Minoru M; ,
Publication Date: 2020-05

Variant appearance in text: rs2293370
PubMed Link: 32363322
Variant Present in the following documents:
  • HEP4-4-724.pdf
View BVdb publication page



Impact of the Polymorphism of the PACRG and CD80 Genes on the Development of the Different Stages of Tuberculosis Infection.

Iranian Journal Of Medical Sciences
Bragina, Elena Yu EY; Babushkina, Nadezhda P NP; Garaeva, Anna F AF; Rudko, Alexey A AA; Tsitrikov, Dmitry Yu DY; Gomboeva, Densema E DE; Freidin, Maxim B MB
Publication Date: 2019-05

Variant appearance in text: rs2293370
PubMed Link: 31182890
Variant Present in the following documents:
  • Main text
  • IJMS-44-236.pdf
View BVdb publication page



Primary biliary cirrhosis: Family, genes, and bugs.

Clinical Liver Disease
Mells, George F GF
Publication Date: 2014-04

Variant appearance in text: rs2293370
PubMed Link: 30992889
Variant Present in the following documents:
  • Main text
View BVdb publication page



POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33.

Scientific Reports
Hitomi, Yuki Y; Ueno, Kazuko K; Kawai, Yosuke Y; Nishida, Nao N; Kojima, Kaname K; Kawashima, Minae M; Aiba, Yoshihiro Y; Nakamura, Hitomi H; Kouno, Hiroshi H; Kouno, Hirotaka H; Ohta, Hajime H; Sugi, Kazuhiro K; Nikami, Toshiki T; Yamashita, Tsutomu T; Katsushima, Shinji S; Komeda, Toshiki T; Ario, Keisuke K; Naganuma, Atsushi A; Shimada, Masaaki M; Hirashima, Noboru N; Yoshizawa, Kaname K; Makita, Fujio F; Furuta, Kiyoshi K; Kikuchi, Masahiro M; Naeshiro, Noriaki N; Takahashi, Hironao H; Mano, Yutaka Y; Yamashita, Haruhiro H; Matsushita, Kouki K; Tsunematsu, Seiji S; Yabuuchi, Iwao I; Nishimura, Hideo H; Shimada, Yusuke Y; Yamauchi, Kazuhiko K; Komatsu, Tatsuji T; Sugimoto, Rie R; Sakai, Hironori H; Mita, Eiji E; Koda, Masaharu M; Nakamura, Yoko Y; Kamitsukasa, Hiroshi H; Sato, Takeaki T; Nakamuta, Makoto M; Masaki, Naohiko N; Takikawa, Hajime H; Tanaka, Atsushi A; Ohira, Hiromasa H; Zeniya, Mikio M; Abe, Masanori M; Kaneko, Shuichi S; Honda, Masao M; Arai, Kuniaki K; Arinaga-Hino, Teruko T; Hashimoto, Etsuko E; Taniai, Makiko M; Umemura, Takeji T; Joshita, Satoru S; Nakao, Kazuhiko K; Ichikawa, Tatsuki T; Shibata, Hidetaka H; Takaki, Akinobu A; Yamagiwa, Satoshi S; Seike, Masataka M; Sakisaka, Shotaro S; Takeyama, Yasuaki Y; Harada, Masaru M; Senju, Michio M; Yokosuka, Osamu O; Kanda, Tatsuo T; Ueno, Yoshiyuki Y; Ebinuma, Hirotoshi H; Himoto, Takashi T; Murata, Kazumoto K; Shimoda, Shinji S; Nagaoka, Shinya S; Abiru, Seigo S; Komori, Atsumasa A; Migita, Kiyoshi K; Ito, Masahiro M; Yatsuhashi, Hiroshi H; Maehara, Yoshihiko Y; Uemoto, Shinji S; Kokudo, Norihiro N; Nagasaki, Masao M; Tokunaga, Katsushi K; Nakamura, Minoru M
Publication Date: 2019-01-14

Variant appearance in text: rs2293370
PubMed Link: 30643196
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_36490.pdf
View BVdb publication page



Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis.

Journal Of Immunology Research
Joshita, Satoru S; Umemura, Takeji T; Tanaka, Eiji E; Ota, Masao M
Publication Date: 2017

Variant appearance in text: rs2293370
PubMed Link: 28255561
Variant Present in the following documents:
  • Main text
  • JIR2017-3073504.pdf
View BVdb publication page



Shared Genetic Etiology of Autoimmune Diseases in Patients from a Biorepository Linked to De-identified Electronic Health Records.

Frontiers In Genetics
Restrepo, Nicole A NA; Butkiewicz, Mariusz M; McGrath, Josephine A JA; Crawford, Dana C DC
Publication Date: 2016

Variant appearance in text: rs2293370
PubMed Link: 27812365
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Risk Score for Predicting Multiple Sclerosis.

Plos One
Dobson, Ruth R; Ramagopalan, Sreeram S; Topping, Joanne J; Smith, Paul P; Solanky, Bhavana B; Schmierer, Klaus K; Chard, Declan D; Giovannoni, Gavin G
Publication Date: 2016

Variant appearance in text: rs2293370
PubMed Link: 27802296
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies.

Neurology. Genetics
George, Michaela F MF; Briggs, Farren B S FB; Shao, Xiaorong X; Gianfrancesco, Milena A MA; Kockum, Ingrid I; Harbo, Hanne F HF; Celius, Elisabeth G EG; Bos, Steffan D SD; Hedström, Anna A; Shen, Ling L; Bernstein, Allan A; Alfredsson, Lars L; Hillert, Jan J; Olsson, Tomas T; Patsopoulos, Nikolaos A NA; De Jager, Philip L PL; Oturai, Annette B AB; Søndergaard, Helle B HB; Sellebjerg, Finn F; Sorensen, Per S PS; Gomez, Refujia R; Caillier, Stacy J SJ; Cree, Bruce A C BA; Oksenberg, Jorge R JR; Hauser, Stephen L SL; D'Alfonso, Sandra S; Leone, Maurizio A MA; Martinelli Boneschi, Filippo F; Sorosina, Melissa M; van der Mei, Ingrid I; Taylor, Bruce V BV; Zhou, Yuan Y; Schaefer, Catherine C; Barcellos, Lisa F LF
Publication Date: 2016-08

Variant appearance in text: rs2293370
PubMed Link: 27540591
Variant Present in the following documents:
  • NG2015001412.pdf
View BVdb publication page



Genome-Wide Association Studies in Primary Biliary Cirrhosis.

Seminars In Liver Disease
Gulamhusein, Aliya F AF; Juran, Brian D BD; Lazaridis, Konstantinos N KN
Publication Date: 2015-11

Variant appearance in text: rs2293370
PubMed Link: 26676814
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-Wide Association Study Reveals Host Genetic Factors for Liver Diseases.

Journal Of Clinical And Translational Hepatology
Nishida, Nao N; Tokunaga, Katsushi K; Mizokami, Masashi M
Publication Date: 2013-09

Variant appearance in text: rs2293370
PubMed Link: 26357606
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs2293370
PubMed Link: 26250073
Variant Present in the following documents:
  • Main text
View BVdb publication page



Combinations of susceptibility genes are associated with higher risk for multiple sclerosis and imply disease course specificity.

Plos One
Akkad, Denis A DA; Olischewsky, Alexandra A; Reiner, Franziska F; Hellwig, Kerstin K; Esser, Sarika S; Epplen, Jörg T JT; Curk, Tomaz T; Gold, Ralf R; Haghikia, Aiden A
Publication Date: 2015

Variant appearance in text: rs2293370
PubMed Link: 26011527
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of NF-κB and PLCL2 as new susceptibility genes and highlights on a potential role of IRF8 through interferon signature modulation in systemic sclerosis.

Arthritis Research & Therapy
Arismendi, Maria M; Giraud, Matthieu M; Ruzehaji, Nadira N; Dieudé, Philippe P; Koumakis, Eugenie E; Ruiz, Barbara B; Airo, Paolo P; Cusi, Daniele D; Matucci-Cerinic, Marco M; Salvi, Erika E; Cuomo, Giovanna G; Hachulla, Eric E; Diot, Elisabeth E; Caramaschi, Paola P; Riccieri, Valeria V; Avouac, Jérôme J; Kayser, Cristiane C; Allanore, Yannick Y
Publication Date: 2015-03-21

Variant appearance in text: rs2293370
PubMed Link: 25880423
Variant Present in the following documents:
  • Main text
  • 13075_2015_Article_572.pdf
View BVdb publication page



Multiple genetic variants associated with primary biliary cirrhosis in a Han Chinese population.

Clinical Reviews In Allergy & Immunology
Dong, Ming M; Li, Jinxin J; Tang, Ruqi R; Zhu, Ping P; Qiu, Fang F; Wang, Chan C; Qiu, Jie J; Wang, Lan L; Dai, Yaping Y; Xu, Ping P; Gao, Yueqiu Y; Han, Chongxu C; Wang, Yongzhong Y; Wu, Jian J; Wu, Xudong X; Zhang, Kui K; Dai, Na N; Sun, Weihao W; Zhou, Jianpo J; Hu, Zhigang Z; Liu, Lei L; Jiang, Yuzhang Y; Nie, Jinshan J; Zhao, Yi Y; Gong, Yuhua Y; Tian, Ye Y; Ji, Hualiang H; Jiao, Zhijun Z; Jiang, Po P; Shi, Xingjuan X; Jawed, Rohil R; Zhang, Yu Y; Huang, Qinghai Q; Li, Enling E; Wei, Yiran Y; Xie, Wei W; Zhao, Weifeng W; Liu, Xiang X; Zhu, Xiang X; Qiu, Hong H; He, Gengsheng G; Chen, Weichang W; Seldin, Michael F MF; Gershwin, M Eric ME; Liu, Xiangdong X; Ma, Xiong X
Publication Date: 2015-06

Variant appearance in text: rs2293370
PubMed Link: 25690649
Variant Present in the following documents:
  • Main text
View BVdb publication page



The cumulative effects of known susceptibility variants to predict primary biliary cirrhosis risk.

Genes And Immunity
Tang, R R; Chen, H H; Miao, Q Q; Bian, Z Z; Ma, W W; Feng, X X; Seldin, M F MF; Invernizzi, P P; Gershwin, M E ME; Liao, W W; Ma, X X
Publication Date: 2015

Variant appearance in text: rs2293370
PubMed Link: 25569263
Variant Present in the following documents:
  • Main text
View BVdb publication page



No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.

Human Molecular Genetics
Goris, An A; van Setten, Jessica J; Diekstra, Frank F; Ripke, Stephan S; Patsopoulos, Nikolaos A NA; Sawcer, Stephen J SJ; , ; van Es, Michael M; , ; Andersen, Peter M PM; Melki, Judith J; Meininger, Vincent V; Hardiman, Orla O; Landers, John E JE; Brown, Robert H RH; Shatunov, Aleksey A; Leigh, Nigel N; Al-Chalabi, Ammar A; Shaw, Christopher E CE; Traynor, Bryan J BJ; Chiò, Adriano A; Restagno, Gabriella G; Mora, Gabriele G; Ophoff, Roel A RA; Oksenberg, Jorge R JR; Van Damme, Philip P; Compston, Alastair A; Robberecht, Wim W; Dubois, Bénédicte B; van den Berg, Leonard H LH; De Jager, Philip L PL; Veldink, Jan H JH; de Bakker, Paul I W PI
Publication Date: 2014-04-01

Variant appearance in text: rs2293370
PubMed Link: 24234648
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics of multiple sclerosis: review of current and emerging candidates.

The Application Of Clinical Genetics
Muñoz-Culla, Maider M; Irizar, Haritz H; Otaegui, David D
Publication Date: 2013

Variant appearance in text: rs2293370
PubMed Link: 24019748
Variant Present in the following documents:
  • Main text
View BVdb publication page



Progress in multiple sclerosis genetics.

Current Genomics
Goris, An A; Pauwels, Ine I; Dubois, Bénédicte B
Publication Date: 2012-12

Variant appearance in text: rs2293370
PubMed Link: 23730204
Variant Present in the following documents:
  • Main text
  • CG-13-646.pdf
View BVdb publication page



Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.

American Journal Of Human Genetics
Nakamura, Minoru M; Nishida, Nao N; Kawashima, Minae M; Aiba, Yoshihiro Y; Tanaka, Atsushi A; Yasunami, Michio M; Nakamura, Hitomi H; Komori, Atsumasai A; Nakamuta, Makoto M; Zeniya, Mikio M; Hashimoto, Etsuko E; Ohira, Hiromasa H; Yamamoto, Kazuhide K; Onji, Morikazu M; Kaneko, Shuichi S; Honda, Masao M; Yamagiwa, Satoshi S; Nakao, Kazuhiko K; Ichida, Takafumi T; Takikawa, Hajime H; Seike, Masataka M; Umemura, Takeji T; Ueno, Yoshiyuki Y; Sakisaka, Shotaro S; Kikuchi, Kentaro K; Ebinuma, Hirotoshi H; Yamashiki, Noriyo N; Tamura, Sumito S; Sugawara, Yasuhiko Y; Mori, Akira A; Yagi, Shintaro S; Shirabe, Ken K; Taketomi, Akinobu A; Arai, Kuniaki K; Monoe, Kyoko K; Ichikawa, Tatsuki T; Taniai, Makiko M; Miyake, Yasuhiro Y; Kumagi, Teru T; Abe, Masanori M; Yoshizawa, Kaname K; Joshita, Satoru S; Shimoda, Shinji S; Honda, Koichi K; Takahashi, Hiroki H; Hirano, Katsuji K; Takeyama, Yasuaki Y; Harada, Kenichi K; Migita, Kiyoshi K; Ito, Masahiro M; Yatsuhashi, Hiroshi H; Fukushima, Nobuyoshi N; Ota, Hajime H; Komatsu, Tatsuji T; Saoshiro, Takeo T; Ishida, Jinya J; Kouno, Hirotsugu H; Kouno, Hirotaka H; Yagura, Michiyasu M; Kobayashi, Masakazu M; Muro, Toyokichi T; Masaki, Naohiko N; Hirata, Keiichi K; Watanabe, Yukio Y; Nakamura, Yoko Y; Shimada, Masaaki M; Hirashima, Noboru N; Komeda, Toshiki T; Sugi, Kazuhiro K; Koga, Michiaki M; Ario, Keisuke K; Takesaki, Eiichi E; Maehara, Yoshihiko Y; Uemoto, Shinji S; Kokudo, Norihiro N; Tsubouchi, Hirohito H; Mizokami, Masashi M; Nakanuma, Yasuni Y; Tokunaga, Katsushi K; Ishibashi, Hiromi H
Publication Date: 2012-10-05

Variant appearance in text: rs2293370
PubMed Link: 23000144
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.

Nature Genetics
Liu, Jimmy Z JZ; Almarri, Mohamed A MA; Gaffney, Daniel J DJ; Mells, George F GF; Jostins, Luke L; Cordell, Heather J HJ; Ducker, Samantha J SJ; Day, Darren B DB; Heneghan, Michael A MA; Neuberger, James M JM; Donaldson, Peter T PT; Bathgate, Andrew J AJ; Burroughs, Andrew A; Davies, Mervyn H MH; Jones, David E DE; Alexander, Graeme J GJ; Barrett, Jeffrey C JC; Sandford, Richard N RN; Anderson, Carl A CA; , ; ,
Publication Date: 2012-10

Variant appearance in text: rs2293370
PubMed Link: 22961000
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics of multiple sclerosis: an up-to-date review.

Immunological Reviews
Gourraud, Pierre-Antoine PA; Harbo, Hanne F HF; Hauser, Stephen L SL; Baranzini, Sergio E SE
Publication Date: 2012-07

Variant appearance in text: rs2293370
PubMed Link: 22725956
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic regions associated with multiple sclerosis are active in B cells.

Plos One
Disanto, Giulio G; Sandve, Geir Kjetil GK; Berlanga-Taylor, Antonio J AJ; Morahan, Julia M JM; Dobson, Ruth R; Giovannoni, Gavin G; Ramagopalan, Sreeram V SV
Publication Date: 2012

Variant appearance in text: rs2293370
PubMed Link: 22396755
Variant Present in the following documents:
  • Main text
View BVdb publication page



Perspectives on the use of multiple sclerosis risk genes for prediction.

Plos One
Jafari, Naghmeh N; Broer, Linda L; van Duijn, Cornelia M CM; Janssens, A Cecile J W AC; Hintzen, Rogier Q RQ
Publication Date: 2011

Variant appearance in text: rs2293370
PubMed Link: 22164203
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

Nature
, ; , ; Sawcer, Stephen S; Hellenthal, Garrett G; Pirinen, Matti M; Spencer, Chris C A CC; Patsopoulos, Nikolaos A NA; Moutsianas, Loukas L; Dilthey, Alexander A; Su, Zhan Z; Freeman, Colin C; Hunt, Sarah E SE; Edkins, Sarah S; Gray, Emma E; Booth, David R DR; Potter, Simon C SC; Goris, An A; Band, Gavin G; Oturai, Annette Bang AB; Strange, Amy A; Saarela, Janna J; Bellenguez, Céline C; Fontaine, Bertrand B; Gillman, Matthew M; Hemmer, Bernhard B; Gwilliam, Rhian R; Zipp, Frauke F; Jayakumar, Alagurevathi A; Martin, Roland R; Leslie, Stephen S; Hawkins, Stanley S; Giannoulatou, Eleni E; D'alfonso, Sandra S; Blackburn, Hannah H; Martinelli Boneschi, Filippo F; Liddle, Jennifer J; Harbo, Hanne F HF; Perez, Marc L ML; Spurkland, Anne A; Waller, Matthew J MJ; Mycko, Marcin P MP; Ricketts, Michelle M; Comabella, Manuel M; Hammond, Naomi N; Kockum, Ingrid I; McCann, Owen T OT; Ban, Maria M; Whittaker, Pamela P; Kemppinen, Anu A; Weston, Paul P; Hawkins, Clive C; Widaa, Sara S; Zajicek, John J; Dronov, Serge S; Robertson, Neil N; Bumpstead, Suzannah J SJ; Barcellos, Lisa F LF; Ravindrarajah, Rathi R; Abraham, Roby R; Alfredsson, Lars L; Ardlie, Kristin K; Aubin, Cristin C; Baker, Amie A; Baker, Katharine K; Baranzini, Sergio E SE; Bergamaschi, Laura L; Bergamaschi, Roberto R; Bernstein, Allan A; Berthele, Achim A; Boggild, Mike M; Bradfield, Jonathan P JP; Brassat, David D; Broadley, Simon A SA; Buck, Dorothea D; Butzkueven, Helmut H; Capra, Ruggero R; Carroll, William M WM; Cavalla, Paola P; Celius, Elisabeth G EG; Cepok, Sabine S; Chiavacci, Rosetta R; Clerget-Darpoux, Françoise F; Clysters, Katleen K; Comi, Giancarlo G; Cossburn, Mark M; Cournu-Rebeix, Isabelle I; Cox, Mathew B MB; Cozen, Wendy W; Cree, Bruce A C BA; Cross, Anne H AH; Cusi, Daniele D; Daly, Mark J MJ; Davis, Emma E; de Bakker, Paul I W PI; Debouverie, Marc M; D'hooghe, Marie Beatrice MB; Dixon, Katherine K; Dobosi, Rita R; Dubois, Bénédicte B; Ellinghaus, David D; Elovaara, Irina I; Esposito, Federica F; Fontenille, Claire C; Foote, Simon S; Franke, Andre A; Galimberti, Daniela D; Ghezzi, Angelo A; Glessner, Joseph J; Gomez, Refujia R; Gout, Olivier O; Graham, Colin C; Grant, Struan F A SF; Guerini, Franca Rosa FR; Hakonarson, Hakon H; Hall, Per P; Hamsten, Anders A; Hartung, Hans-Peter HP; Heard, Rob N RN; Heath, Simon S; Hobart, Jeremy J; Hoshi, Muna M; Infante-Duarte, Carmen C; Ingram, Gillian G; Ingram, Wendy W; Islam, Talat T; Jagodic, Maja M; Kabesch, Michael M; Kermode, Allan G AG; Kilpatrick, Trevor J TJ; Kim, Cecilia C; Klopp, Norman N; Koivisto, Keijo K; Larsson, Malin M; Lathrop, Mark M; Lechner-Scott, Jeannette S JS; Leone, Maurizio A MA; Leppä, Virpi V; Liljedahl, Ulrika U; Bomfim, Izaura Lima IL; Lincoln, Robin R RR; Link, Jenny J; Liu, Jianjun J; Lorentzen, Aslaug R AR; Lupoli, Sara S; Macciardi, Fabio F; Mack, Thomas T; Marriott, Mark M; Martinelli, Vittorio V; Mason, Deborah D; McCauley, Jacob L JL; Mentch, Frank F; Mero, Inger-Lise IL; Mihalova, Tania T; Montalban, Xavier X; Mottershead, John J; Myhr, Kjell-Morten KM; Naldi, Paola P; Ollier, William W; Page, Alison A; Palotie, Aarno A; Pelletier, Jean J; Piccio, Laura L; Pickersgill, Trevor T; Piehl, Fredrik F; Pobywajlo, Susan S; Quach, Hong L HL; Ramsay, Patricia P PP; Reunanen, Mauri M; Reynolds, Richard R; Rioux, John D JD; Rodegher, Mariaemma M; Roesner, Sabine S; Rubio, Justin P JP; Rückert, Ina-Maria IM; Salvetti, Marco M; Salvi, Erika E; Santaniello, Adam A; Schaefer, Catherine A CA; Schreiber, Stefan S; Schulze, Christian C; Scott, Rodney J RJ; Sellebjerg, Finn F; Selmaj, Krzysztof W KW; Sexton, David D; Shen, Ling L; Simms-Acuna, Brigid B; Skidmore, Sheila S; Sleiman, Patrick M A PM; Smestad, Cathrine C; Sørensen, Per Soelberg PS; Søndergaard, Helle Bach HB; Stankovich, Jim J; Strange, Richard C RC; Sulonen, Anna-Maija AM; Sundqvist, Emilie E; Syvänen, Ann-Christine AC; Taddeo, Francesca F; Taylor, Bruce B; Blackwell, Jenefer M JM; Tienari, Pentti P; Bramon, Elvira E; Tourbah, Ayman A; Brown, Matthew A MA; Tronczynska, Ewa E; Casas, Juan P JP; Tubridy, Niall N; Corvin, Aiden A; Vickery, Jane J; Jankowski, Janusz J; Villoslada, Pablo P; Markus, Hugh S HS; Wang, Kai K; Mathew, Christopher G CG; Wason, James J; Palmer, Colin N A CN; Wichmann, H-Erich HE; Plomin, Robert R; Willoughby, Ernest E; Rautanen, Anna A; Winkelmann, Juliane J; Wittig, Michael M; Trembath, Richard C RC; Yaouanq, Jacqueline J; Viswanathan, Ananth C AC; Zhang, Haitao H; Wood, Nicholas W NW; Zuvich, Rebecca R; Deloukas, Panos P; Langford, Cordelia C; Duncanson, Audrey A; Oksenberg, Jorge R JR; Pericak-Vance, Margaret A MA; Haines, Jonathan L JL; Olsson, Tomas T; Hillert, Jan J; Ivinson, Adrian J AJ; De Jager, Philip L PL; Peltonen, Leena L; Stewart, Graeme J GJ; Hafler, David A DA; Hauser, Stephen L SL; McVean, Gil G; Donnelly, Peter P; Compston, Alastair A
Publication Date: 2011-08-10

Variant appearance in text: rs2293370
PubMed Link: 21833088
Variant Present in the following documents:
  • NIHMS36028-supplement-1.pdf
View BVdb publication page



Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.

Nature Genetics
Mells, George F GF; Floyd, James A B JA; Morley, Katherine I KI; Cordell, Heather J HJ; Franklin, Christopher S CS; Shin, So-Youn SY; Heneghan, Michael A MA; Neuberger, James M JM; Donaldson, Peter T PT; Day, Darren B DB; Ducker, Samantha J SJ; Muriithi, Agnes W AW; Wheater, Elizabeth F EF; Hammond, Christopher J CJ; Dawwas, Muhammad F MF; , ; , ; Jones, David E DE; Peltonen, Leena L; Alexander, Graeme J GJ; Sandford, Richard N RN; Anderson, Carl A CA
Publication Date: 2011-03-13

Variant appearance in text: rs2293370
PubMed Link: 21399635
Variant Present in the following documents:
  • Main text
  • NIHMS34438-supplement-1.pdf
View BVdb publication page