MMP12 c.834A>G ;(p.P278P)

Variant ID: 11-102738075-T-C

NM_002426.6(MMP12):c.834A>G;(p.P278P)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs17368582
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs17368582
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: rs17368582
PubMed Link: 31343404
Variant Present in the following documents:
  • Main text
  • elife-42720.pdf
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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs17368582
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Common coding variant in SERPINA1 increases the risk for large artery stroke.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Malik, Rainer R; Dau, Therese T; Gonik, Maria M; Sivakumar, Anirudh A; Deredge, Daniel J DJ; Edeleva, Evgeniia V EV; Götzfried, Jessica J; van der Laan, Sander W SW; Pasterkamp, Gerard G; Beaufort, Nathalie N; Seixas, Susana S; Bevan, Steve S; Lincz, Lisa F LF; Holliday, Elizabeth G EG; Burgess, Annette I AI; Rannikmäe, Kristiina K; Minnerup, Jens J; Kriebel, Jennifer J; Waldenberger, Melanie M; Müller-Nurasyid, Martina M; Lichtner, Peter P; Saleheen, Danish D; , ; Rothwell, Peter M PM; Levi, Christopher C; Attia, John J; Sudlow, Cathie L M CL; Braun, Dieter D; Markus, Hugh S HS; Wintrode, Patrick L PL; Berger, Klaus K; Jenne, Dieter E DE; Dichgans, Martin M
Publication Date: 2017-04-04

Variant appearance in text: rs17368582
PubMed Link: 28265093
Variant Present in the following documents:
  • Main text
View BVdb publication page



Connecting genetic risk to disease end points through the human blood plasma proteome.

Nature Communications
Suhre, Karsten K; Arnold, Matthias M; Bhagwat, Aditya Mukund AM; Cotton, Richard J RJ; Engelke, Rudolf R; Raffler, Johannes J; Sarwath, Hina H; Thareja, Gaurav G; Wahl, Annika A; DeLisle, Robert Kirk RK; Gold, Larry L; Pezer, Marija M; Lauc, Gordan G; El-Din Selim, Mohammed A MA; Mook-Kanamori, Dennis O DO; Al-Dous, Eman K EK; Mohamoud, Yasmin A YA; Malek, Joel J; Strauch, Konstantin K; Grallert, Harald H; Peters, Annette A; Kastenmüller, Gabi G; Gieger, Christian C; Graumann, Johannes J
Publication Date: 2017-02-27

Variant appearance in text: rs17368582
PubMed Link: 28240269
Variant Present in the following documents:
  • ncomms14357-s1.pdf
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Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.

Thorax
Jackson, Victoria E VE; Ntalla, Ioanna I; Sayers, Ian I; Morris, Richard R; Whincup, Peter P; Casas, Juan-Pablo JP; Amuzu, Antoinette A; Choi, Minkyoung M; Dale, Caroline C; Kumari, Meena M; Engmann, Jorgen J; Kalsheker, Noor N; Chappell, Sally S; Guetta-Baranes, Tamar T; McKeever, Tricia M TM; Palmer, Colin N A CN; Tavendale, Roger R; Holloway, John W JW; Sayer, Avan A AA; Dennison, Elaine M EM; Cooper, Cyrus C; Bafadhel, Mona M; Barker, Bethan B; Brightling, Chris C; Bolton, Charlotte E CE; John, Michelle E ME; Parker, Stuart G SG; Moffat, Miriam F MF; Wardlaw, Andrew J AJ; Connolly, Martin J MJ; Porteous, David J DJ; Smith, Blair H BH; Padmanabhan, Sandosh S; Hocking, Lynne L; Stirrups, Kathleen E KE; Deloukas, Panos P; Strachan, David P DP; Hall, Ian P IP; Tobin, Martin D MD; Wain, Louise V LV
Publication Date: 2016-06

Variant appearance in text: rs17368582
PubMed Link: 26917578
Variant Present in the following documents:
  • Main text
  • thoraxjnl-2015-207876.pdf
  • thoraxjnl-2015-207876supp.pdf
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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: rs17368582
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Exome sequencing followed by genotyping suggests SYPL2 as a susceptibility gene for morbid obesity.

European Journal Of Human Genetics : Ejhg
Jiao, Hong H; Arner, Peter P; Gerdhem, Paul P; Strawbridge, Rona J RJ; Näslund, Erik E; Thorell, Anders A; Hamsten, Anders A; Kere, Juha J; Dahlman, Ingrid I
Publication Date: 2015-09

Variant appearance in text: rs17368582
PubMed Link: 25406998
Variant Present in the following documents:
View BVdb publication page



A novel MMP12 locus is associated with large artery atherosclerotic stroke using a genome-wide age-at-onset informed approach.

Plos Genetics
Traylor, Matthew M; Mäkelä, Kari-Matti KM; Kilarski, Laura L LL; Holliday, Elizabeth G EG; Devan, William J WJ; Nalls, Mike A MA; Wiggins, Kerri L KL; Zhao, Wei W; Cheng, Yu-Ching YC; Achterberg, Sefanja S; Malik, Rainer R; Sudlow, Cathie C; Bevan, Steve S; Raitoharju, Emma E; , ; Oksala, Niku N; Thijs, Vincent V; Lemmens, Robin R; Lindgren, Arne A; Slowik, Agnieszka A; Maguire, Jane M JM; Walters, Matthew M; Algra, Ale A; Sharma, Pankaj P; Attia, John R JR; Boncoraglio, Giorgio B GB; Rothwell, Peter M PM; de Bakker, Paul I W PI; Bis, Joshua C JC; Saleheen, Danish D; Kittner, Steven J SJ; Mitchell, Braxton D BD; Rosand, Jonathan J; Meschia, James F JF; Levi, Christopher C; Dichgans, Martin M; Lehtimäki, Terho T; Lewis, Cathryn M CM; Markus, Hugh S HS
Publication Date: 2014-07

Variant appearance in text: rs17368582
PubMed Link: 25078452
Variant Present in the following documents:
  • Main text
  • pgen.1004469.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: rs17368582
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: rs17368582
PubMed Link: 20078883
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-7.pdf
View BVdb publication page