Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.
Biorxiv : The Preprint Server For Biology
Behera, S S; Belyeu, J R JR; Chen, X X; Paulin, L F LF; Nguyen, N Q H NQH; Newman, E E; Mahmoud, M M; Menon, V K VK; Qi, Q Q; Joshi, P P; Marcovina, S S; Rossi, M M; Roller, E E; Han, J J; Onuchic, V V; Avery, C L CL; Ballantyne, C M CM; Rodriguez, C J CJ; Kaplan, R C RC; Muzny, D M DM; Metcalf, G A GA; Gibbs, R R; Yu, B B; Boerwinkle, E E; Eberle, M A MA; Sedlazeck, F J FJ
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
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
Investigation of a nonsense mutation located in the complex KIV-2 copy number variation region of apolipoprotein(a) in 10,910 individuals.
Genome Medicine
Di Maio, Silvia S; Grüneis, Rebecca R; Streiter, Gertraud G; Lamina, Claudia C; Maglione, Manuel M; Schoenherr, Sebastian S; Öfner, Dietmar D; Thorand, Barbara B; Peters, Annette A; Eckardt, Kai-Uwe KU; Köttgen, Anna A; Kronenberg, Florian F; Coassin, Stefan S
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Rausell, Antonio A; Luo, Yufei Y; Lopez, Marie M; Seeleuthner, Yoann Y; Rapaport, Franck F; Favier, Antoine A; Stenson, Peter D PD; Cooper, David N DN; Patin, Etienne E; Casanova, Jean-Laurent JL; Quintana-Murci, Lluis L; Abel, Laurent L
Association of Long-term Exposure to Elevated Lipoprotein(a) Levels With Parental Life Span, Chronic Disease-Free Survival, and Mortality Risk: A Mendelian Randomization Analysis.
Jama Network Open
Arsenault, Benoit J BJ; Pelletier, William W; Kaiser, Yannick Y; Perrot, Nicolas N; Couture, Christian C; Khaw, Kay-Tee KT; Wareham, Nicholas J NJ; Bossé, Yohan Y; Pibarot, Philippe P; Stroes, Erik S G ESG; Mathieu, Patrick P; Thériault, Sébastien S; Boekholdt, S Matthijs SM
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: Lp(a): 4289+1G>A; rs41272114
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: LPA: 4289+1G>A; rs41272114
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Translational Psychiatry
Kember, Rachel L RL; Hou, Liping L; Ji, Xiao X; Andersen, Lars H LH; Ghorai, Arpita A; Estrella, Lisa N LN; Almasy, Laura L; McMahon, Francis J FJ; Brown, Christopher C; Bućan, Maja M
Publication Date: 2018-10-12
Variant appearance in text: LPA: 4289+1G>A; rs41272114
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; ,
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
Impact of Apolipoprotein(a) Isoform Size on Lipoprotein(a) Lowering in the HPS2-THRIVE Study.
Circulation. Genomic And Precision Medicine
Parish, Sarah S; Hopewell, Jemma C JC; Hill, Michael R MR; Marcovina, Santica S; Valdes-Marquez, Elsa E; Haynes, Richard R; Offer, Alison A; Pedersen, Terje R TR; Baigent, Colin C; Collins, Rory R; Landray, Martin M; Armitage, Jane J; ,
A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms.
Journal Of Lipid Research
Mack, Salome S; Coassin, Stefan S; Rueedi, Rico R; Yousri, Noha A NA; Seppälä, Ilkka I; Gieger, Christian C; Schönherr, Sebastian S; Forer, Lukas L; Erhart, Gertraud G; Marques-Vidal, Pedro P; Ried, Janina S JS; Waeber, Gerard G; Bergmann, Sven S; Dähnhardt, Doreen D; Stöckl, Andrea A; Raitakari, Olli T OT; Kähönen, Mika M; Peters, Annette A; Meitinger, Thomas T; Strauch, Konstantin K; Kedenko, Ludmilla L; Paulweber, Bernhard B; Lehtimäki, Terho T; Hunt, Steven C SC; Vollenweider, Peter P; Lamina, Claudia C; Kronenberg, Florian F
A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms.
Journal Of Lipid Research
Mack, Salome S; Coassin, Stefan S; Rueedi, Rico R; Yousri, Noha A NA; Seppälä, Ilkka I; Gieger, Christian C; Schönherr, Sebastian S; Forer, Lukas L; Erhart, Gertraud G; Marques-Vidal, Pedro P; Ried, Janina S JS; Waeber, Gerard G; Bergmann, Sven S; Dähnhardt, Doreen D; Stöckl, Andrea A; Raitakari, Olli T OT; Kähönen, Mika M; Peters, Annette A; Meitinger, Thomas T; Strauch, Konstantin K; , ; Kedenko, Ludmilla L; Paulweber, Bernhard B; Lehtimäki, Terho T; Hunt, Steven C SC; Vollenweider, Peter P; Lamina, Claudia C; Kronenberg, Florian F
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
Associations Between Common and Rare Exonic Genetic Variants and Serum Levels of 20 Cardiovascular-Related Proteins: The Tromsø Study.
Circulation. Cardiovascular Genetics
Solomon, Terry T; Smith, Erin N EN; Matsui, Hiroko H; Braekkan, Sigrid K SK; , ; Wilsgaard, Tom T; Njølstad, Inger I; Mathiesen, Ellisiv B EB; Hansen, John-Bjarne JB; Frazer, Kelly A KA
Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.
Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05
Variant appearance in text: LPA: 4289+1G>A; rs41272114
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: LPA: 4289+1G>A; rs41272114
Genetic variants in PLG, LPA, and SIGLEC 14 as well as smoking contribute to plasma plasminogen levels.
Blood
Ma, Qianyi Q; Ozel, Ayse B AB; Ramdas, Shweta S; McGee, Beth B; Khoriaty, Rami R; Siemieniak, David D; Li, Hong-Dong HD; Guan, Yuanfang Y; Brody, Lawrence C LC; Mills, James L JL; Molloy, Anne M AM; Ginsburg, David D; Li, Jun Z JZ; Desch, Karl C KC
Distribution and medical impact of loss-of-function variants in the Finnish founder population.
Plos Genetics
Lim, Elaine T ET; Würtz, Peter P; Havulinna, Aki S AS; Palta, Priit P; Tukiainen, Taru T; Rehnström, Karola K; Esko, Tõnu T; Mägi, Reedik R; Inouye, Michael M; Lappalainen, Tuuli T; Chan, Yingleong Y; Salem, Rany M RM; Lek, Monkol M; Flannick, Jason J; Sim, Xueling X; Manning, Alisa A; Ladenvall, Claes C; Bumpstead, Suzannah S; Hämäläinen, Eija E; Aalto, Kristiina K; Maksimow, Mikael M; Salmi, Marko M; Blankenberg, Stefan S; Ardissino, Diego D; Shah, Svati S; Horne, Benjamin B; McPherson, Ruth R; Hovingh, Gerald K GK; Reilly, Muredach P MP; Watkins, Hugh H; Goel, Anuj A; Farrall, Martin M; Girelli, Domenico D; Reiner, Alex P AP; Stitziel, Nathan O NO; Kathiresan, Sekar S; Gabriel, Stacey S; Barrett, Jeffrey C JC; Lehtimäki, Terho T; Laakso, Markku M; Groop, Leif L; Kaprio, Jaakko J; Perola, Markus M; McCarthy, Mark I MI; Boehnke, Michael M; Altshuler, David M DM; Lindgren, Cecilia M CM; Hirschhorn, Joel N JN; Metspalu, Andres A; Freimer, Nelson B NB; Zeller, Tanja T; Jalkanen, Sirpa S; Koskinen, Seppo S; Raitakari, Olli O; Durbin, Richard R; MacArthur, Daniel G DG; Salomaa, Veikko V; Ripatti, Samuli S; Daly, Mark J MJ; Palotie, Aarno A; ,
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.
American Journal Of Human Genetics
Xue, Yali Y; Chen, Yuan Y; Ayub, Qasim Q; Huang, Ni N; Ball, Edward V EV; Mort, Matthew M; Phillips, Andrew D AD; Shaw, Katy K; Stenson, Peter D PD; Cooper, David N DN; Tyler-Smith, Chris C; ,