LPA c.4974-2A>C

Variant ID: 6-160969693-T-G

NM_005577.2(LPA):c.4974-2A>C

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.

International Journal Of Molecular Sciences
Pan-Lizcano, Ricardo R; Mariñas-Pardo, Luis L; Núñez, Lucía L; Rebollal-Leal, Fernando F; López-Vázquez, Domingo D; Pereira, Ana A; Molina-Nieto, Aranzazu A; Calviño, Ramón R; Vázquez-Rodríguez, Jose Manuel JM; Hermida-Prieto, Manuel M
Publication Date: 2022-12-17

Variant appearance in text: rs143431368
PubMed Link: 36555767
Variant Present in the following documents:
  • ijms-23-16127.pdf
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Lipoprotein(a) in atherosclerotic cardiovascular disease and aortic stenosis: a European Atherosclerosis Society consensus statement.

European Heart Journal
Kronenberg, Florian F; Mora, Samia S; Stroes, Erik S G ESG; Ference, Brian A BA; Arsenault, Benoit J BJ; Berglund, Lars L; Dweck, Marc R MR; Koschinsky, Marlys M; Lambert, Gilles G; Mach, François F; McNeal, Catherine J CJ; Moriarty, Patrick M PM; Natarajan, Pradeep P; Nordestgaard, Børge G BG; Parhofer, Klaus G KG; Virani, Salim S SS; von Eckardstein, Arnold A; Watts, Gerald F GF; Stock, Jane K JK; Ray, Kausik K KK; Tokgözoğlu, Lale S LS; Catapano, Alberico L AL
Publication Date: 2022-10-14

Variant appearance in text: rs143431368
PubMed Link: 36036785
Variant Present in the following documents:
  • ehac361_Supplementary_Data.pdf
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Lipoprotein(a) beyond the kringle IV repeat polymorphism: The complexity of genetic variation in the LPA gene.

Atherosclerosis
Coassin, Stefan S; Kronenberg, Florian F
Publication Date: 2022-05

Variant appearance in text: rs143431368
PubMed Link: 35606073
Variant Present in the following documents:
  • Main text
  • EMS152740.pdf
View BVdb publication page



Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics
Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA
Publication Date: 2021-02

Variant appearance in text: rs143431368
PubMed Link: 33462484
Variant Present in the following documents:
  • NIHMS1651539-supplement-2.xlsx, sheet 9
View BVdb publication page



Nonsynonymous SNPs in LPA homologous to plasminogen deficiency mutants represent novel null apo(a) alleles.

Journal Of Lipid Research
Morgan, Benjamin M BM; Brown, Aimee N AN; Deo, Nikita N; Harrop, Tom W R TWR; Taiaroa, George G; Mace, Peter D PD; Wilbanks, Sigurd M SM; Merriman, Tony R TR; Williams, Michael J A MJA; McCormick, Sally P A SPA
Publication Date: 2020-03

Variant appearance in text: rs143431368
PubMed Link: 31806727
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide association study on lipoprotein (a) levels and coronary artery disease severity in a Chinese population.

Journal Of Lipid Research
Liu, Yibin Y; Ma, Hongkun H; Zhu, Qian Q; Zhang, Bin B; Yan, Hong H; Li, Hanping H; Meng, Jinxiu J; Lai, Weihua W; Li, Liwen L; Yu, Danqing D; Zhong, Shilong S
Publication Date: 2019-08

Variant appearance in text: rs143431368
PubMed Link: 31186284
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: rs143431368
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page



Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

Nature Communications
Zekavat, Seyedeh M SM; Ruotsalainen, Sanni S; Handsaker, Robert E RE; Alver, Maris M; Bloom, Jonathan J; Poterba, Timothy T; Seed, Cotton C; Ernst, Jason J; Chaffin, Mark M; Engreitz, Jesse J; Peloso, Gina M GM; Manichaikul, Ani A; Yang, Chaojie C; Ryan, Kathleen A KA; Fu, Mao M; Johnson, W Craig WC; Tsai, Michael M; Budoff, Matthew M; Vasan, Ramachandran S RS; Cupples, L Adrienne LA; Rotter, Jerome I JI; Rich, Stephen S SS; Post, Wendy W; Mitchell, Braxton D BD; Correa, Adolfo A; Metspalu, Andres A; Wilson, James G JG; Salomaa, Veikko V; Kellis, Manolis M; Daly, Mark J MJ; Neale, Benjamin M BM; McCarroll, Steven S; Surakka, Ida I; Esko, Tonu T; Ganna, Andrea A; Ripatti, Samuli S; Kathiresan, Sekar S; Natarajan, Pradeep P; ,
Publication Date: 2018-07-04

Variant appearance in text: rs143431368
PubMed Link: 29973585
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_4668.pdf
View BVdb publication page



Genetic Factors Explain a Major Fraction of the 50% Lower Lipoprotein(a) Concentrations in Finns.

Arteriosclerosis, Thrombosis, And Vascular Biology
Erhart, Gertraud G; Lamina, Claudia C; Lehtimäki, Terho T; Marques-Vidal, Pedro P; Kähönen, Mika M; Vollenweider, Peter P; Raitakari, Olli T OT; Waeber, Gérard G; Thorand, Barbara B; Strauch, Konstantin K; Gieger, Christian C; Meitinger, Thomas T; Peters, Annette A; Kronenberg, Florian F; Coassin, Stefan S
Publication Date: 2018-05

Variant appearance in text: rs143431368
PubMed Link: 29567679
Variant Present in the following documents:
  • Main text
  • atv-38-1230.pdf
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A novel but frequent variant in LPA KIV-2 is associated with a pronounced Lp(a) and cardiovascular risk reduction.

European Heart Journal
Coassin, Stefan S; Erhart, Gertraud G; Weissensteiner, Hansi H; Eca Guimarães de Araújo, Mariana M; Lamina, Claudia C; Schönherr, Sebastian S; Forer, Lukas L; Haun, Margot M; Losso, Jamie Lee JL; Köttgen, Anna A; Schmidt, Konrad K; Utermann, Gerd G; Peters, Annette A; Gieger, Christian C; Strauch, Konstantin K; Finkenstedt, Armin A; Bale, Reto R; Zoller, Heinz H; Paulweber, Bernhard B; Eckardt, Kai-Uwe KU; Hüttenhofer, Alexander A; Huber, Lukas A LA; Kronenberg, Florian F
Publication Date: 2017-06-14

Variant appearance in text: rs143431368
PubMed Link: 28444229
Variant Present in the following documents:
  • Main text
  • ehx174_supp.pdf
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Lipoprotein(a) and incident type-2 diabetes: results from the prospective Bruneck study and a meta-analysis of published literature.

Cardiovascular Diabetology
Paige, Ellie E; Masconi, Katya L KL; Tsimikas, Sotirios S; Kronenberg, Florian F; Santer, Peter P; Weger, Siegfried S; Willeit, Johann J; Kiechl, Stefan S; Willeit, Peter P
Publication Date: 2017-03-21

Variant appearance in text: rs143431368
PubMed Link: 28320383
Variant Present in the following documents:
  • Main text
  • 12933_2017_Article_520.pdf
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Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels.

Journal Of The American College Of Cardiology
Emdin, Connor A CA; Khera, Amit V AV; Natarajan, Pradeep P; Klarin, Derek D; Won, Hong-Hee HH; Peloso, Gina M GM; Stitziel, Nathan O NO; Nomura, Akihiro A; Zekavat, Seyedeh M SM; Bick, Alexander G AG; Gupta, Namrata N; Asselta, Rosanna R; Duga, Stefano S; Merlini, Piera Angelica PA; Correa, Adolfo A; Kessler, Thorsten T; Wilson, James G JG; Bown, Matthew J MJ; Hall, Alistair S AS; Braund, Peter S PS; Samani, Nilesh J NJ; Schunkert, Heribert H; Marrugat, Jaume J; Elosua, Roberto R; McPherson, Ruth R; Farrall, Martin M; Watkins, Hugh H; Willer, Cristen C; Abecasis, Gonçalo R GR; Felix, Janine F JF; Vasan, Ramachandran S RS; Lander, Eric E; Rader, Daniel J DJ; Danesh, John J; Ardissino, Diego D; Gabriel, Stacey S; Saleheen, Danish D; Kathiresan, Sekar S; , ; ,
Publication Date: 2016-12-27

Variant appearance in text: rs143431368
PubMed Link: 28007139
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: rs143431368
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page