Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia.
Journal Of The American Heart Association
Olmastroni, Elena E; Gazzotti, Marta M; Averna, Maurizio M; Arca, Marcello M; Tarugi, Patrizia P; Calandra, Sebastiano S; Bertolini, Stefano S; Catapano, Alberico L AL; Casula, Manuela M; ,
Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION.
International Journal Of Molecular Sciences
Nazarenko, Maria S MS; Sleptcov, Aleksei A AA; Zarubin, Aleksei A AA; Salakhov, Ramil R RR; Shevchenko, Alexander I AI; Tmoyan, Narek A NA; Elisaphenko, Eugeny A EA; Zubkova, Ekaterina S ES; Zheltysheva, Nina V NV; Ezhov, Marat V MV; Kukharchuk, Valery V VV; Parfyonova, Yelena V YV; Zakian, Suren M SM; Zakharova, Irina S IS
Subclinical atherosclerosis determined by coronary artery calcium deposition in patients with clinical familial hypercholesterolemia.
Atherosclerosis Plus
Borg, Sanna Á SÁ; Sørensen Bork, Christian C; Skjelbo Nielsen, Michael René MR; Jóanesarson, Jan J; Zaremba, Tomas T; Lolas, Ihab Bishara Yousef IBY; Lundbye-Christensen, Søren S; Søgaard, Peter P; Berg Schmidt, Erik E; Joensen, Albert Marni AM
Haplotype of ESR1 and PPARD Genes Is Associated with Higher Anthropometric Changes in Han Chinese Obesity by Adjusting Dietary Factors-An 18-Month Follow-Up.
Antiretroviral Therapy-Induced Dysregulation of Gene Expression and Lipid Metabolism in HIV+ Patients: Beneficial Role of Antioxidant Phytochemicals.
International Journal Of Molecular Sciences
Jiménez-Osorio, Angélica Saraí AS; Jaen-Vega, Sinaí S; Fernández-Martínez, Eduardo E; Ortíz-Rodríguez, María Araceli MA; Martínez-Salazar, María Fernanda MF; Jiménez-Sánchez, Reyna Cristina RC; Flores-Chávez, Olga Rocío OR; Ramírez-Moreno, Esther E; Arias-Rico, José J; Arteaga-García, Felipe F; Estrada-Luna, Diego D
The Impact of Genetic Polymorphisms in Glutamate-Cysteine Ligase, a Key Enzyme of Glutathione Biosynthesis, on Ischemic Stroke Risk and Brain Infarct Size.
Life (Basel, Switzerland)
Polonikov, Alexey A; Bocharova, Iuliia I; Azarova, Iuliia I; Klyosova, Elena E; Bykanova, Marina M; Bushueva, Olga O; Polonikova, Anna A; Churnosov, Mikhail M; Solodilova, Maria M
GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia.
Elife
Chong, Michael M; Mohammadi-Shemirani, Pedrum P; Perrot, Nicolas N; Nelson, Walter W; Morton, Robert R; Narula, Sukrit S; Lali, Ricky R; Khan, Irfan I; Khan, Mohammad M; Judge, Conor C; Machipisa, Tafadzwa T; Cawte, Nathan N; O'Donnell, Martin M; Pigeyre, Marie M; Akhabir, Loubna L; Paré, Guillaume G
Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.
Human Genetics
Longchamps, R J RJ; Yang, S Y SY; Castellani, C A CA; Shi, W W; Lane, J J; Grove, M L ML; Bartz, T M TM; Sarnowski, C C; Liu, C C; Burrows, K K; Guyatt, A L AL; Gaunt, T R TR; Kacprowski, T T; Yang, J J; De Jager, P L PL; Yu, L L; Bergman, A A; Xia, R R; Fornage, M M; Feitosa, M F MF; Wojczynski, M K MK; Kraja, A T AT; Province, M A MA; Amin, N N; Rivadeneira, F F; Tiemeier, H H; Uitterlinden, A G AG; Broer, L L; Van Meurs, J B J JBJ; Van Duijn, C M CM; Raffield, L M LM; Lange, L L; Rich, S S SS; Lemaitre, R N RN; Goodarzi, M O MO; Sitlani, C M CM; Mak, A C Y ACY; Bennett, D A DA; Rodriguez, S S; Murabito, J M JM; Lunetta, K L KL; Sotoodehnia, N N; Atzmon, G G; Ye, K K; Barzilai, N N; Brody, J A JA; Psaty, B M BM; Taylor, K D KD; Rotter, J I JI; Boerwinkle, E E; Pankratz, N N; Arking, D E DE
Gago-Dominguez, Manuela M; Sobrino, Tomás T; Torres-Español, María M; Calaza, Manuel M; Rodríguez-Castro, Emilio E; Campos, Francisco F; Redondo, Carmen M CM; Castillo, José J; Carracedo, Ángel Á
Case-finding and genetic testing for familial hypercholesterolaemia in primary care.
Heart (British Cardiac Society)
Qureshi, Nadeem N; Akyea, Ralph Kwame RK; Dutton, Brittany B; Humphries, Steve E SE; Abdul Hamid, Hasidah H; Condon, Laura L; Weng, Stephen F SF; Kai, Joe J; ,
A multi-ethnic epigenome-wide association study of leukocyte DNA methylation and blood lipids.
Nature Communications
Jhun, Min-A MA; Mendelson, Michael M; Wilson, Rory R; Gondalia, Rahul R; Joehanes, Roby R; Salfati, Elias E; Zhao, Xiaoping X; Braun, Kim Valeska Emilie KVE; Do, Anh Nguyet AN; Hedman, Åsa K ÅK; Zhang, Tao T; Carnero-Montoro, Elena E; Shen, Jincheng J; Bartz, Traci M TM; Brody, Jennifer A JA; Montasser, May E ME; O'Connell, Jeff R JR; Yao, Chen C; Xia, Rui R; Boerwinkle, Eric E; Grove, Megan M; Guan, Weihua W; Liliane, Pfeiffer P; Singmann, Paula P; Müller-Nurasyid, Martina M; Meitinger, Thomas T; Gieger, Christian C; Peters, Annette A; Zhao, Wei W; Ware, Erin B EB; Smith, Jennifer A JA; Dhana, Klodian K; van Meurs, Joyce J; Uitterlinden, Andre A; Ikram, Mohammad Arfan MA; Ghanbari, Mohsen M; Zhi, Deugi D; Gustafsson, Stefan S; Lind, Lars L; Li, Shengxu S; Sun, Dianjianyi D; Spector, Tim D TD; Chen, Yii-der Ida YI; Damcott, Coleen C; Shuldiner, Alan R AR; Absher, Devin M DM; Horvath, Steve S; Tsao, Philip S PS; Kardia, Sharon S; Psaty, Bruce M BM; Sotoodehnia, Nona N; Bell, Jordana T JT; Ingelsson, Erik E; Chen, Wei W; Dehghan, Abbas A; Arnett, Donna K DK; Waldenberger, Melanie M; Hou, Lifang L; Whitsel, Eric A EA; Baccarelli, Andrea A; Levy, Daniel D; Fornage, Myriam M; Irvin, Marguerite R MR; Assimes, Themistocles L TL
Clinical Implications of Monogenic Versus Polygenic Hypercholesterolemia: Long-Term Response to Treatment, Coronary Atherosclerosis Burden, and Cardiovascular Events.
Journal Of The American Heart Association
D'Erasmo, Laura L; Minicocci, Ilenia I; Di Costanzo, Alessia A; Pigna, Giovanni G; Commodari, Daniela D; Ceci, Fabrizio F; Montali, Anna A; Brancato, Francesca F; Stanca, Ilaria I; Nicolucci, Antonio A; Ascione, Andrea A; Galea, Nicola N; Carbone, Iacopo I; Francone, Marco M; Maranghi, Marianna M; Arca, Marcello M
Using genetic variants to evaluate the causal effect of cholesterol lowering on head and neck cancer risk: A Mendelian randomization study.
Plos Genetics
Gormley, Mark M; Yarmolinsky, James J; Dudding, Tom T; Burrows, Kimberley K; Martin, Richard M RM; Thomas, Steven S; Tyrrell, Jessica J; Brennan, Paul P; Pring, Miranda M; Boccia, Stefania S; Olshan, Andrew F AF; Diergaarde, Brenda B; Hung, Rayjean J RJ; Liu, Geoffrey G; Legge, Danny D; Tajara, Eloiza H EH; Severino, Patricia P; Lacko, Martin M; Ness, Andrew R AR; Davey Smith, George G; Vincent, Emma E EE; Richmond, Rebecca C RC
Saadatagah, Seyedmohammad S; Jose, Merin M; Dikilitas, Ozan O; Alhalabi, Lubna L; Miller, Alexandra A AA; Fan, Xiao X; Olson, Janet E JE; Kochan, David C DC; Safarova, Maya M; Kullo, Iftikhar J IJ
FRZB as a key molecule in abdominal aortic aneurysm progression affecting vascular integrity.
Bioscience Reports
Oh, Chang-Kyu CK; Ko, Yeji Y; Park, Jeong Jun JJ; Heo, Hye Jin HJ; Kang, Junho J; Kwon, Eun Jung EJ; Kang, Ji Wan JW; Lee, Yoonsung Y; Myung, Kyungjae K; Kang, Jin Mo JM; Ko, Dai Sik DS; Kim, Yun Hak YH
Single nucleotide polymorphisms in LCAT may contribute to dyslipidaemia in HIV-infected individuals on HAART in a Ghanaian population.
Scientific Reports
Bani, Simon Bannison SB; Danquah, Kwabena Owusu KO; Obirikorang, Christian C; Owiredu, William K B A WKBA; Quaye, Lawrence L; Muonir Der, Edmund E; Acheampong, Emmanuel E; Adams, Yussif Y; Dapare, Peter Paul M PPM; Banyeh, Moses M; Anto, Enoch Odame EO; Sakyi, Samuel Asamoah SA
Polygenic Markers in Patients Diagnosed of Autosomal Dominant Hypercholesterolemia in Catalonia: Distribution of Weighted LDL-c-Raising SNP Scores and Refinement of Variant Selection.
Biomedicines
Martín-Campos, Jesús M JM; Ruiz-Nogales, Sheila S; Ibarretxe, Daiana D; Ortega, Emilio E; Sánchez-Pujol, Elisabet E; Royuela-Juncadella, Meritxell M; Vila, Àlex À; Guerrero, Carolina C; Zamora, Alberto A; Soler I Ferrer, Cristina C; Arroyo, Juan Antonio JA; Carreras, Gemma G; Martínez-Figueroa, Susana S; Roig, Rosa R; Plana, Núria N; Blanco-Vaca, Francisco F; Xarxa d'Unitats de Lípids I Arteriosclerosi Xula,
Publication Date: 2020-09-15
Variant appearance in text: LDLR: 67+2015G>T; rs6511720
A minor allele of the haplotype located in the 19q13 loci is associated with a decreased risk of hyper-LDL-cholesterolemia, and a balanced diet and high protein intake can reduce the risk.
Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis.
Life (Basel, Switzerland)
Mickiewicz, Agnieszka A; Futema, Marta M; Ćwiklinska, Agnieszka A; Kuchta, Agnieszka A; Jankowski, Maciej M; Kaszubowski, Mariusz M; Chmara, Magdalena M; Wasąg, Bartosz B; Fijałkowski, Marcin M; Jaguszewski, Miłosz M; Humphries, Steve E SE; Gruchała, Marcin M
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Association of single nucleotide polymorphisms with dyslipidemia in antiretroviral exposed HIV patients in a Ghanaian population: A case-control study.
Plos One
Obirikorang, Christian C; Acheampong, Emmanuel E; Quaye, Lawrence L; Yorke, Joseph J; Amos-Abanyie, Ernestine Kubi EK; Akyaw, Priscilla Abena PA; Anto, Enoch Odame EO; Bani, Simon Bannison SB; Asamoah, Evans Adu EA; Batu, Emmanuella Nsenbah EN
A phenome-wide association study (PheWAS) in the Population Architecture using Genomics and Epidemiology (PAGE) study reveals potential pleiotropy in African Americans.
Plos One
Pendergrass, Sarah A SA; Buyske, Steven S; Jeff, Janina M JM; Frase, Alex A; Dudek, Scott S; Bradford, Yuki Y; Ambite, Jose-Luis JL; Avery, Christy L CL; Buzkova, Petra P; Deelman, Ewa E; Fesinmeyer, Megan D MD; Haiman, Christopher C; Heiss, Gerardo G; Hindorff, Lucia A LA; Hsu, Chun-Nan CN; Jackson, Rebecca D RD; Lin, Yi Y; Le Marchand, Loic L; Matise, Tara C TC; Monroe, Kristine R KR; Moreland, Larry L; North, Kari E KE; Park, Sungshim L SL; Reiner, Alex A; Wallace, Robert R; Wilkens, Lynne R LR; Kooperberg, Charles C; Ritchie, Marylyn D MD; Crawford, Dana C DC
Polygenic Susceptibility of Aortic Aneurysms Associates to the Diameter of the Aneurysm Sac: the Aneurysm-Express Biobank Cohort.
Scientific Reports
van Laarhoven, Constance J H C M CJHCM; van Setten, Jessica J; van Herwaarden, Joost A JA; Pasterkamp, Gerard G; de Kleijn, Dominique P V DPV; de Borst, Gert J GJ; van der Laan, Sander W SW
A comprehensive study of metabolite genetics reveals strong pleiotropy and heterogeneity across time and context.
Nature Communications
Gallois, Apolline A; Mefford, Joel J; Ko, Arthur A; Vaysse, Amaury A; Julienne, Hanna H; Ala-Korpela, Mika M; Laakso, Markku M; Zaitlen, Noah N; Pajukanta, Päivi P; Aschard, Hugues H
Reverse gene-environment interaction approach to identify variants influencing body-mass index in humans.
Nature Metabolism
Garske, Kristina M KM; Pan, David Z DZ; Miao, Zong Z; Bhagat, Yash V YV; Comenho, Caroline C; Robles, Christopher R CR; Benhammou, Jihane N JN; Alvarez, Marcus M; Ko, Arthur A; Ye, Chun Jimmie CJ; Pisegna, Joseph R JR; Mohlke, Karen L KL; Sinsheimer, Janet S JS; Laakso, Markku M; Pajukanta, Päivi P
The Contribution of Lipids to the Interindividual Response of Vitamin K Biomarkers to Vitamin K Supplementation.
Molecular Nutrition & Food Research
Kelly, Jennifer M JM; Ordovas, Jose M JM; Matuszek, Gregory G; Smith, Caren E CE; Huggins, Gordon S GS; Dashti, Hassan S HS; Ichikawa, Reiko R; Booth, Sarah L SL
A Prospective Analysis of Genetic Variants Associated with Human Lifespan.
G3 (Bethesda, Md.)
Wright, Kevin M KM; Rand, Kristin A KA; Kermany, Amir A; Noto, Keith K; Curtis, Don D; Garrigan, Daniel D; Slinkov, Dmitri D; Dorfman, Ilya I; Granka, Julie M JM; Byrnes, Jake J; Myres, Natalie N; Ball, Catherine A CA; Ruby, J Graham JG
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.
Npj Genomic Medicine
Safarova, Maya S MS; Satterfield, Benjamin A BA; Fan, Xiao X; Austin, Erin E EE; Ye, Zhan Z; Bastarache, Lisa L; Zheng, Neil N; Ritchie, Marylyn D MD; Borthwick, Kenneth M KM; Williams, Marc S MS; Larson, Eric B EB; Scrol, Aaron A; Jarvik, Gail P GP; Crosslin, David R DR; Leppig, Kathleen K; Rasmussen-Torvik, Laura J LJ; Pendergrass, Sarah A SA; Sturm, Amy C AC; Namjou, Bahram B; Shah, Amy Sanghavi AS; Carroll, Robert J RJ; Chung, Wendy K WK; Wei, Wei-Qi WQ; Feng, QiPing Q; Stein, C Michael CM; Roden, Dan M DM; Manolio, Teri A TA; Schaid, Daniel J DJ; Denny, Joshua C JC; Hebbring, Scott J SJ; de Andrade, Mariza M; Kullo, Iftikhar J IJ
A PheWAS study of a large observational epidemiological cohort of African Americans from the REGARDS study.
Bmc Medical Genomics
Zhao, Xueyan X; Geng, Xin X; Srinivasasainagendra, Vinodh V; Chaudhary, Ninad N; Judd, Suzanne S; Wadley, Virginia V; Gutiérrez, Orlando M OM; Wang, Henry H; Lange, Ethan M EM; Lange, Leslie A LA; Woo, Daniel D; Unverzagt, Frederick W FW; Safford, Monika M; Cushman, Mary M; Limdi, Nita N; Quarells, Rakale R; Arnett, Donna K DK; Irvin, Marguerite R MR; Zhi, Degui D