MMP12 c.351-79C>A

Variant ID: 11-102742761-G-T

NM_002426.4(MMP12):c.351-79C>A

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Improved power and precision with whole genome sequencing data in genome-wide association studies of inflammatory biomarkers.

Scientific Reports
Höglund, Julia J; Rafati, Nima N; Rask-Andersen, Mathias M; Enroth, Stefan S; Karlsson, Torgny T; Ek, Weronica E WE; Johansson, Åsa Å
Publication Date: 2019-11-14

Variant appearance in text: rs17368659
PubMed Link: 31727947
Variant Present in the following documents:
  • Main text
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MMP2 Polymorphism Affects Plasma Matrix Metalloproteinase (MMP)-2 Levels, and Correlates with the Decline in Lung Function in Hypersensitivity Pneumonitis Positive to Autoantibodies Patients.

Biomolecules
Santiago-Ruiz, Luis L; Buendía-Roldán, Ivette I; Pérez-Rubio, Gloria G; Ambrocio-Ortiz, Enrique E; Mejía, Mayra M; Montaño, Martha M; Falfán-Valencia, Ramcés R
Publication Date: 2019-10-05

Variant appearance in text: rs17368659
PubMed Link: 31590404
Variant Present in the following documents:
  • Main text
  • biomolecules-09-00574.pdf
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Identification of an emphysema-associated genetic variant near TGFB2 with regulatory effects in lung fibroblasts.

Elife
Parker, Margaret M MM; Hao, Yuan Y; Guo, Feng F; Pham, Betty B; Chase, Robert R; Platig, John J; Cho, Michael H MH; Hersh, Craig P CP; Thannickal, Victor J VJ; Crapo, James J; Washko, George G; Randell, Scott H SH; Silverman, Edwin K EK; San José Estépar, Raúl R; Zhou, Xiaobo X; Castaldi, Peter J PJ
Publication Date: 2019-07-25

Variant appearance in text: rs17368659
PubMed Link: 31343404
Variant Present in the following documents:
  • Main text
  • elife-42720.pdf
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Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease.

Plos Genetics
Folkersen, Lasse L; Fauman, Eric E; Sabater-Lleal, Maria M; Strawbridge, Rona J RJ; Frånberg, Mattias M; Sennblad, Bengt B; Baldassarre, Damiano D; Veglia, Fabrizio F; Humphries, Steve E SE; Rauramaa, Rainer R; de Faire, Ulf U; Smit, Andries J AJ; Giral, Philippe P; Kurl, Sudhir S; Mannarino, Elmo E; Enroth, Stefan S; Johansson, Åsa Å; Enroth, Sofia Bosdotter SB; Gustafsson, Stefan S; Lind, Lars L; Lindgren, Cecilia C; Morris, Andrew P AP; Giedraitis, Vilmantas V; Silveira, Angela A; Franco-Cereceda, Anders A; Tremoli, Elena E; , ; Gyllensten, Ulf U; Ingelsson, Erik E; Brunak, Søren S; Eriksson, Per P; Ziemek, Daniel D; Hamsten, Anders A; Mälarstig, Anders A
Publication Date: 2017-04

Variant appearance in text: rs17368659
PubMed Link: 28369058
Variant Present in the following documents:
  • Main text
  • pgen.1006706.pdf
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Polymorphisms near TBX5 and GDF7 are associated with increased risk for Barrett's esophagus.

Gastroenterology
Palles, Claire C; Chegwidden, Laura L; Li, Xinzhong X; Findlay, John M JM; Farnham, Garry G; Castro Giner, Francesc F; Peppelenbosch, Maikel P MP; Kovac, Michal M; Adams, Claire L CL; Prenen, Hans H; Briggs, Sarah S; Harrison, Rebecca R; Sanders, Scott S; MacDonald, David D; Haigh, Chris C; Tucker, Art A; Love, Sharon S; Nanji, Manoj M; deCaestecker, John J; Ferry, David D; Rathbone, Barrie B; Hapeshi, Julie J; Barr, Hugh H; Moayyedi, Paul P; Watson, Peter P; Zietek, Barbara B; Maroo, Neera N; Gay, Laura L; Underwood, Tim T; Boulter, Lisa L; McMurtry, Hugh H; Monk, David D; Patel, Praful P; Ragunath, Krish K; Al Dulaimi, David D; Murray, Iain I; Koss, Konrad K; Veitch, Andrew A; Trudgill, Nigel N; Nwokolo, Chuka C; Rembacken, Bjorn B; Atherfold, Paul P; Green, Elaine E; Ang, Yeng Y; Kuipers, Ernst J EJ; Chow, Wu W; Paterson, Stuart S; Kadri, Sudarshan S; Beales, Ian I; Grimley, Charles C; Mullins, Paul P; Beckett, Conrad C; Farrant, Mark M; Dixon, Andrew A; Kelly, Sean S; Johnson, Matthew M; Wajed, Shahjehan S; Dhar, Anjan A; Sawyer, Elinor E; Roylance, Rebecca R; Onstad, Lynn L; Gammon, Marilie D MD; Corley, Douglas A DA; Shaheen, Nicholas J NJ; Bird, Nigel C NC; Hardie, Laura J LJ; Reid, Brian J BJ; Ye, Weimin W; Liu, Geoffrey G; Romero, Yvonne Y; Bernstein, Leslie L; Wu, Anna H AH; Casson, Alan G AG; Fitzgerald, Rebecca R; Whiteman, David C DC; Risch, Harvey A HA; Levine, David M DM; Vaughan, Tom L TL; Verhaar, Auke P AP; van den Brande, Jan J; Toxopeus, Eelke L EL; Spaander, Manon C MC; Wijnhoven, Bas P L BP; van der Laan, Luc J W LJ; Krishnadath, Kausilia K; Wijmenga, Cisca C; Trynka, Gosia G; McManus, Ross R; Reynolds, John V JV; O'Sullivan, Jacintha J; MacMathuna, Padraic P; McGarrigle, Sarah A SA; Kelleher, Dermot D; Vermeire, Severine S; Cleynen, Isabelle I; Bisschops, Raf R; Tomlinson, Ian I; Jankowski, Janusz J
Publication Date: 2015-02

Variant appearance in text: rs17368659
PubMed Link: 25447851
Variant Present in the following documents:
  • mmc1.pdf
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Genome-wide association identifies regulatory Loci associated with distinct local histogram emphysema patterns.

American Journal Of Respiratory And Critical Care Medicine
Castaldi, Peter J PJ; Cho, Michael H MH; San José Estépar, Raúl R; McDonald, Merry-Lynn N ML; Laird, Nan N; Beaty, Terri H TH; Washko, George G; Crapo, James D JD; Silverman, Edwin K EK; ,
Publication Date: 2014-08-15

Variant appearance in text: rs17368659
PubMed Link: 25006744
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of MMP-2 polymorphisms with severe and very severe COPD: a case control study of MMPs-1, 9 and 12 in a European population.

Bmc Medical Genetics
Haq, Imran I; Chappell, Sally S; Johnson, Simon R SR; Lotya, Juzer J; Daly, Leslie L; Morgan, Kevin K; Guetta-Baranes, Tamar T; Roca, Josep J; Rabinovich, Roberto R; Millar, Ann B AB; Donnelly, Seamas C SC; Keatings, Vera V; MacNee, William W; Stolk, Jan J; Hiemstra, Pieter S PS; Miniati, Massimo M; Monti, Simonetta S; O'Connor, Clare M CM; Kalsheker, Noor N
Publication Date: 2010-01-15

Variant appearance in text: rs17368659
PubMed Link: 20078883
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-7.pdf
View BVdb publication page