MMP2 c.750C>T ;(p.T250=)

Variant ID: 16-55519607-C-T

NM_004530.4(MMP2):c.750C>T;(p.T250=)

This variant was identified in 27 publications

View GRCh38 version.




Publications:


Single-nucleotide polymorphisms of matrix metalloproteinase genes are associated with graft fibrosis after kidney transplantation.

Translational Andrology And Urology
Zhang, Hengcheng H; Gao, Xiang X; Gui, Zeping Z; Suo, Chuanjian C; Tao, Jun J; Han, Zhijian Z; Ju, Xiaobin X; Tan, Ruoyun R; Gu, Min M; Wang, Zijie Z
Publication Date: 2023-03-31

Variant appearance in text: rs1053605
PubMed Link: 37032759
Variant Present in the following documents:
  • Main text
  • tau-12-03-375.pdf
View BVdb publication page



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: MMP2: T250T; rs1053605
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: MMP2: T250T; rs1053605
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



MMP2 Polymorphisms and Colorectal Cancer Susceptibility in a Chinese Han Population.

International Journal Of General Medicine
Liu, Xu X; Yang, Kelaier K; Li, Zhangfu Z; Liu, Jikui J
Publication Date: 2022

Variant appearance in text: rs1053605
PubMed Link: 35818579
Variant Present in the following documents:
  • Main text
  • ijgm-15-6009.pdf
View BVdb publication page



Epidemiological Evidence Between Variants in Matrix Metalloproteinases-2, -7, and -9 and Cancer Risk.

Frontiers In Oncology
Huang, Chenglu C; Xu, Suqin S; Luo, Zhilin Z; Li, Dong D; Wang, Rui R; Wang, Tianhu T
Publication Date: 2022

Variant appearance in text: rs1053605
PubMed Link: 35574300
Variant Present in the following documents:
  • Main text
  • fonc-12-856831.pdf
View BVdb publication page



The polymorphisms of extracellular matrix-remodeling genes are associated with pelvic organ prolapse.

International Urogynecology Journal
Li, Lei L; Ma, Yidi Y; Yang, Hua H; Sun, Zhijing Z; Chen, Juan J; Zhu, Lan L
Publication Date: 2022-01-01

Variant appearance in text: MMP2: T250T; rs1053605
PubMed Link: 34973089
Variant Present in the following documents:
  • 192_2021_4917_MOESM1_ESM.xls, sheet 1
View BVdb publication page



The polymorphisms of extracellular matrix-remodeling genes are associated with pelvic organ prolapse.

International Urogynecology Journal
Li, Lei L; Ma, Yidi Y; Yang, Hua H; Sun, Zhijing Z; Chen, Juan J; Zhu, Lan L
Publication Date: 2022-02

Variant appearance in text: MMP2: T250T; rs1053605
PubMed Link: 34973089
Variant Present in the following documents:
  • 192_2021_4917_MOESM1_ESM.xls, sheet 1
View BVdb publication page



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: MMP2: T250T; rs1053605
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: MMP2: 750C>T; T250T; rs1053605
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: MMP2: 750C>T; Thr250=; rs1053605
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: MMP2: 750C>T
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Matrix metalloproteinase-2 gene polymorphisms are associated with ischemic stroke in a Hainan population.

Medicine
Niu, Fanglin F; Wei, Boping B; Yan, Mengdan M; Li, Jing J; Ouyang, Yongri Y; Jin, Tianbo T
Publication Date: 2018-09

Variant appearance in text: rs1053605
PubMed Link: 30278505
Variant Present in the following documents:
  • Main text
  • medi-97-e12302.pdf
View BVdb publication page



Investigation of the Matrix Metalloproteinase-2 Gene in Patients with Non-Syndromic Mitral Valve Prolapse.

Journal Of Cardiovascular Development And Disease
Perrocheau, Maëlle M; Kiando, Soto Romuald SR; Vernerey, Déwi D; Dina, Christian C; Galan, Pilar P; Hagege, Albert A; Jeunemaitre, Xavier X; Bouatia-Naji, Nabila N
Publication Date: 2015-07-10

Variant appearance in text: rs1053605
PubMed Link: 29371517
Variant Present in the following documents:
  • Main text
  • jcdd-02-00176.pdf
View BVdb publication page



MMP9 polymorphism is associated with susceptibility to non-traumatic osteonecrosis of femoral head in a Chinese Han population.

Oncotarget
Liu, Yuan Y; Jia, Yanfei Y; Cao, Yuju Y; Zhao, Yan Y; Du, Jieli J; An, Feimeng F; Qi, Yuxin Y; Feng, Xue X; Jin, Tianbo T; Shi, Jianping J; Wang, Jianzhong J
Publication Date: 2017-10-10

Variant appearance in text: rs1053605
PubMed Link: 29137306
Variant Present in the following documents:
  • Main text
  • oncotarget-08-82835.pdf
View BVdb publication page



Association between alcohol-induced osteonecrosis of femoral head and risk variants of MMPS in Han population based on a case-control study.

Oncotarget
Wang, Jianzhong J; Shi, Xugang X; Yang, Hua H; Du, Jieli J; Ouyang, Yongri Y; Wang, Hong H; Jin, Tianbo T; Chen, Chao C
Publication Date: 2017-09-08

Variant appearance in text: rs1053605
PubMed Link: 28969088
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs1053605
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Single-nucleotide polymorphisms of MMP2 in MMP/TIMP pathways associated with the risk of alcohol-induced osteonecrosis of the femoral head in Chinese males: A case-control study.

Medicine
Yu, Yan Y; Xie, Zhilan Z; Wang, Jihan J; Chen, Chu C; Du, Shuli S; Chen, Peng P; Li, Bin B; Jin, Tianbo T; Zhao, Heping H
Publication Date: 2016-12

Variant appearance in text: rs1053605
PubMed Link: 27930516
Variant Present in the following documents:
  • Main text
  • medi-95-e5407.pdf
View BVdb publication page



A single-nucleotide polymorphism in MMP9 is associated with decreased risk of steroid-induced osteonecrosis of the femoral head.

Oncotarget
Du, Jieli J; Liu, Wanlin W; Jin, Tianbo T; Zhao, Zhenqun Z; Bai, Rui R; Xue, Huiqin H; Chen, Junyu J; Sun, Mingqi M; Zhang, Xiyang X; Wang, Guoqiang G; Wang, Jianzhong J
Publication Date: 2016-10-18

Variant appearance in text: rs1053605
PubMed Link: 27637086
Variant Present in the following documents:
  • Main text
  • oncotarget-07-68434.pdf
View BVdb publication page



Association of MMP-2 gene haplotypes with thoracic aortic dissection in chinese han population.

Bmc Cardiovascular Disorders
Liu, Ou O; Li, Jiachen J; Xin, Yi Y; Qin, Yanwen Y; Li, Haiyang H; Gong, Ming M; Liu, Yuyong Y; Wang, Xiaolong X; Li, Jianrong J; Zhang, Hongjia H
Publication Date: 2016-01-14

Variant appearance in text: rs1053605
PubMed Link: 26762140
Variant Present in the following documents:
  • Main text
  • 12872_2016_Article_188.pdf
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: MMP2: T250T; rs1053605
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: MMP2: T250T; rs1053605
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Nature Genetics
Dulak, Austin M AM; Stojanov, Petar P; Peng, Shouyong S; Lawrence, Michael S MS; Fox, Cameron C; Stewart, Chip C; Bandla, Santhoshi S; Imamura, Yu Y; Schumacher, Steven E SE; Shefler, Erica E; McKenna, Aaron A; Carter, Scott L SL; Cibulskis, Kristian K; Sivachenko, Andrey A; Saksena, Gordon G; Voet, Douglas D; Ramos, Alex H AH; Auclair, Daniel D; Thompson, Kristin K; Sougnez, Carrie C; Onofrio, Robert C RC; Guiducci, Candace C; Beroukhim, Rameen R; Zhou, Zhongren Z; Lin, Lin L; Lin, Jules J; Reddy, Rishindra R; Chang, Andrew A; Landrenau, Rodney R; Pennathur, Arjun A; Ogino, Shuji S; Luketich, James D JD; Golub, Todd R TR; Gabriel, Stacey B SB; Lander, Eric S ES; Beer, David G DG; Godfrey, Tony E TE; Getz, Gad G; Bass, Adam J AJ
Publication Date: 2013-05

Variant appearance in text: MMP2: 750C>T; T250T
PubMed Link: 23525077
Variant Present in the following documents:
  • NIHMS474888-supplement-5.xlsx, sheet 1
View BVdb publication page



Assessment of the association of matrix metalloproteinases with myopia, refractive error and ocular biometric measures in an Australian cohort.

Plos One
Schache, Maria M; Baird, Paul N PN
Publication Date: 2012

Variant appearance in text: rs1053605
PubMed Link: 23077567
Variant Present in the following documents:
  • Main text
  • pone.0047181.pdf
View BVdb publication page



The association between inflammation-related genes and serum androgen levels in men: the prostate, lung, colorectal, and ovarian study.

The Prostate
Meyer, Tamra E TE; Chu, Lisa W LW; Li, Qizhai Q; Yu, Kai K; Rosenberg, Philip S PS; Menashe, Idan I; Chokkalingam, Anand P AP; Quraishi, Sabah M SM; Huang, Wen-Yi WY; Weiss, Jocelyn M JM; Kaaks, Rudolf R; Hayes, Richard B RB; Chanock, Stephen J SJ; Hsing, Ann W AW
Publication Date: 2012-01

Variant appearance in text: rs1053605
PubMed Link: 21520164
Variant Present in the following documents:
  • Main text
View BVdb publication page



Matrix metalloproteinases 2 and 3 gene polymorphisms and the risk of target vessel revascularization after percutaneous coronary intervention: Is there still room for determining genetic variation of MMPs for assessment of an increased risk of restenosis?

Disease Markers
Verschuren, J J W JJ; Sampietro, M L ML; Pons, D D; Trompet, S S; Ewing, M M MM; Quax, P H A PH; de Knijff, P P; Zwinderman, A H AH; de Winter, R J RJ; Tio, R A RA; de Maat, M P MP; Doevendans, P A F M PA; Jukema, J W JW
Publication Date: 2010

Variant appearance in text: rs1053605
PubMed Link: 21206012
Variant Present in the following documents:
  • DM29-05-504039.pdf
View BVdb publication page



Variants of the Matrix Metalloproteinase-2 but not the Matrix Metalloproteinase-9 genes significantly influence functional outcome after stroke.

Bmc Medical Genetics
Manso, Helena H; Krug, Tiago T; Sobral, João J; Albergaria, Isabel I; Gaspar, Gisela G; Ferro, José M JM; Oliveira, Sofia A SA; Vicente, Astrid M AM
Publication Date: 2010-03-11

Variant appearance in text: rs1053605
PubMed Link: 20222942
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-40.pdf
View BVdb publication page



Matrix Metallopeptidase 2 Gene Polymorphism is Associated with Obesity in Korean Population.

The Korean Journal Of Physiology & Pharmacology : Official Journal Of The Korean Physiological Society And The Korean Society Of Pharmacology
Han, Dong Hee DH; Kim, Su Kang SK; Kang, Sungwook S; Choe, Bong-Keun BK; Kim, Keon Sik KS; Chung, Joo-Ho JH
Publication Date: 2008-06

Variant appearance in text: MMP2: Thr250Thr; rs1053605
PubMed Link: 20157405
Variant Present in the following documents:
  • Main text
View BVdb publication page



Matrix metalloproteinase-2 polymorphisms and breast cancer susceptibility.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Beeghly-Fadiel, Alicia A; Lu, Wei W; Long, Ji-Rong JR; Shu, Xiao-ou XO; Zheng, Ying Y; Cai, Qiuyin Q; Gao, Yu-Tang YT; Zheng, Wei W
Publication Date: 2009-06

Variant appearance in text: rs1053605
PubMed Link: 19454611
Variant Present in the following documents:
  • Main text
View BVdb publication page