Publications:

---

Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study.

Plos Genetics

Y Hu, M Graff, J Haessler, S Buyske, SA Bien, R Tao, HM Highland, KK Nishimura, N Zubair, Y Lu, M Verbanck, AT Hilliard, D Klarin, SM Damrauer, YL Ho, , PWF Wilson, KM Chang, PS Tsao, K Cho, CJ O'Donnell, TL Assimes, LE Petty, JE Below, O Dikilitas, DJ Schaid, ML Kosel, IJ Kullo, LJ Rasmussen-Torvik, GP Jarvik, Q Feng, WQ Wei, EB Larson, FD Mentch, B Almoguera, PM Sleiman, LM Raffield, A Correa, LW Martin, M Daviglus, TC Matise, JL Ambite, CS Carlson, R Do, RJF Loos, LR Wilkens, L Le Marchand, C Haiman, DO Stram, LA Hindorff, KE North, C Kooperberg, I Cheng, U Peters

Publication Date: 2020-03

Variant appearance in text: rs28362286

PubMed Link: 32226016

Variant Present in the following documents:

• Main text

View BVdb publication page

---

EDEM3 Modulates Plasma Triglyceride Level through Its Regulation of LRP1 Expression.

Iscience

YX Xu, GM Peloso, TH Nagai, T Mizoguchi, A Deik, K Bullock, H Lin, K Musunuru, Q Yang, RS Vasan, RE Gerszten, CB Clish, D Rader, S Kathiresan

Publication Date: 2020-04-24

Variant appearance in text: rs28362286

PubMed Link: 32213464

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.

Npj Genomic Medicine

MS Safarova, BA Satterfield, X Fan, EE Austin, Z Ye, L Bastarache, N Zheng, MD Ritchie, KM Borthwick, MS Williams, EB Larson, A Scrol, GP Jarvik, DR Crosslin, K Leppig, LJ Rasmussen-Torvik, SA Pendergrass, AC Sturm, B Namjou, AS Shah, RJ Carroll, WK Chung, WQ Wei, Q Feng, CM Stein, DM Roden, TA Manolio, DJ Schaid, JC Denny, SJ Hebbring, M de Andrade, IJ Kullo

Publication Date: 2019

Variant appearance in text: rs28362286

PubMed Link: 30774981

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

Nature Communications

TO Kilpeläinen, AR Bentley, R Noordam, YJ Sung, K Schwander, TW Winkler, H Jakupović, DI Chasman, A Manning, I Ntalla, H Aschard, MR Brown, L de Las Fuentes, N Franceschini, X Guo, D Vojinovic, S Aslibekyan, MF Feitosa, M Kho, SK Musani, M Richard, H Wang, Z Wang, TM Bartz, LF Bielak, A Campbell, R Dorajoo, V Fisher, FP Hartwig, ARVR Horimoto, C Li, KK Lohman, J Marten, X Sim, AV Smith, SM Tajuddin, M Alver, M Amini, M Boissel, JF Chai, X Chen, J Divers, E Evangelou, C Gao, M Graff, SE Harris, M He, FC Hsu, AU Jackson, JH Zhao, AT Kraja, B Kühnel, F Laguzzi, LP Lyytikäinen, IM Nolte, R Rauramaa, M Riaz, A Robino, R Rueedi, HM Stringham, F Takeuchi, PJ van der Most, TV Varga, N Verweij, EB Ware, W Wen, X Li, LR Yanek, N Amin, DK Arnett, E Boerwinkle, M Brumat, B Cade, M Canouil, YI Chen, MP Concas, J Connell, R de Mutsert, HJ de Silva, PS de Vries, A Demirkan, J Ding, CB Eaton, JD Faul, Y Friedlander, KP Gabriel, M Ghanbari, F Giulianini, CC Gu, D Gu, TB Harris, J He, S Heikkinen, CK Heng, SC Hunt, MA Ikram, JB Jonas, WP Koh, P Komulainen, JE Krieger, SB Kritchevsky, Z Kutalik, J Kuusisto, CD Langefeld, C Langenberg, LJ Launer, K Leander, RN Lemaitre, CE Lewis, J Liang, , J Liu, R Mägi, A Manichaikul, T Meitinger, A Metspalu, Y Milaneschi, KL Mohlke, TH Mosley, AD Murray, MA Nalls, EK Nang, CP Nelson, S Nona, JM Norris, CV Nwuba, J O'Connell, ND Palmer, GJ Papanicolau, R Pazoki, NL Pedersen, A Peters, PA Peyser, O Polasek, DJ Porteous, A Poveda, OT Raitakari, SS Rich, N Risch, JG Robinson, LM Rose, I Rudan, PJ Schreiner, RA Scott, SS Sidney, M Sims, JA Smith, H Snieder, T Sofer, JM Starr, B Sternfeld, K Strauch, H Tang, KD Taylor, MY Tsai, J Tuomilehto, AG Uitterlinden, MY van der Ende, D van Heemst, T Voortman, M Waldenberger, P Wennberg, G Wilson, YB Xiang, J Yao, C Yu, JM Yuan, W Zhao, AB Zonderman, DM Becker, M Boehnke, DW Bowden, U de Faire, IJ Deary, P Elliott, T Esko, BI Freedman, P Froguel, P Gasparini, C Gieger, N Kato, M Laakso, TA Lakka, T Lehtimäki, PKE Magnusson, AJ Oldehinkel, BWJH Penninx, NJ Samani, XO Shu, P van der Harst, JV Van Vliet-Ostaptchouk, P Vollenweider, LE Wagenknecht, YX Wang, NJ Wareham, DR Weir, T Wu, W Zheng, X Zhu, MK Evans, PW Franks, V Gudnason, C Hayward, BL Horta, TN Kelly, Y Liu, KE North, AC Pereira, PM Ridker, ES Tai, RM van Dam, ER Fox, SLR Kardia, CT Liu, DO Mook-Kanamori, MA Province, S Redline, CM van Duijn, JI Rotter, CB Kooperberg, WJ Gauderman, BM Psaty, K Rice, PB Munroe, M Fornage, LA Cupples, CN Rotimi, AC Morrison, DC Rao, RJF Loos

Publication Date: 2019-01-22

Variant appearance in text: rs28362286

PubMed Link: 30670697

Variant Present in the following documents:

• 41467_2018_8008_MOESM11_ESM.xlsx
• 41467_2018_8008_MOESM8_ESM.xlsx

View BVdb publication page

---

Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study.

Plos Genetics

JP Davis, JR Huyghe, AE Locke, AU Jackson, X Sim, HM Stringham, TM Teslovich, RP Welch, C Fuchsberger, N Narisu, PS Chines, AJ Kangas, P Soininen, M Ala-Korpela, J Kuusisto, FS Collins, M Laakso, M Boehnke, KL Mohlke

Publication Date: 2017-10

Variant appearance in text: rs28362286

PubMed Link: 29084231

Variant Present in the following documents:

• pgen.1007079.s010.xlsx

View BVdb publication page

---

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Nature Genetics

X Lu, GM Peloso, DJ Liu, Y Wu, H Zhang, W Zhou, J Li, CS Tang, R Dorajoo, H Li, J Long, X Guo, M Xu, CN Spracklen, Y Chen, X Liu, Y Zhang, CC Khor, J Liu, L Sun, L Wang, YT Gao, Y Hu, K Yu, Y Wang, CYY Cheung, F Wang, J Huang, Q Fan, Q Cai, S Chen, J Shi, X Yang, W Zhao, WH Sheu, SS Cherny, M He, AB Feranil, LS Adair, P Gordon-Larsen, S Du, R Varma, YI Chen, XO Shu, KSL Lam, TY Wong, SK Ganesh, Z Mo, K Hveem, LG Fritsche, JB Nielsen, HF Tse, Y Huo, CY Cheng, YE Chen, W Zheng, ES Tai, W Gao, X Lin, W Huang, G Abecasis, , S Kathiresan, KL Mohlke, T Wu, PC Sham, D Gu, CJ Willer

Publication Date: 2017-12

Variant appearance in text: rs28362286

PubMed Link: 29083407

Variant Present in the following documents:

• NIHMS909133-supplement-2.xlsx

View BVdb publication page

---

Replication and fine-mapping of genetic predictors of lipid traits in African-Americans.

Journal Of Human Genetics

Q Feng, WQ Wei, RT Levinson, JD Mosley, CM Stein

Publication Date: 2017-10

Variant appearance in text: rs28362286

PubMed Link: 28539666

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The impact of rare and low-frequency genetic variants in common disease.

Genome Biology

L Bomba, K Walter, N Soranzo

Publication Date: 2017-04-27

Variant appearance in text: rs28362286

PubMed Link: 28449691

Variant Present in the following documents:

• 13059_2017_1212_MOESM1_ESM.xlsx

View BVdb publication page

---

Fine-mapping of lipid regions in global populations discovers ethnic-specific signals and refines previously identified lipid loci.

Human Molecular Genetics

N Zubair, M Graff, J Luis Ambite, WS Bush, G Kichaev, Y Lu, A Manichaikul, WH Sheu, D Absher, TL Assimes, SJ Bielinski, EP Bottinger, P Buzkova, LM Chuang, RH Chung, B Cochran, L Dumitrescu, O Gottesman, JW Haessler, C Haiman, G Heiss, CA Hsiung, YJ Hung, CM Hwu, JJ Juang, L Le Marchand, IT Lee, WJ Lee, LA Lin, D Lin, SY Lin, RH Mackey, LW Martin, B Pasaniuc, U Peters, I Predazzi, T Quertermous, AP Reiner, J Robinson, JI Rotter, KK Ryckman, PJ Schreiner, E Stahl, R Tao, MY Tsai, LL Waite, TD Wang, S Buyske, YD Ida Chen, I Cheng, DC Crawford, RJF Loos, SS Rich, M Fornage, KE North, C Kooperberg, CL Carty

Publication Date: 2016-12-15

Variant appearance in text: rs28362286

PubMed Link: 28426890

Variant Present in the following documents:

• ddw358_supp.docx

View BVdb publication page

---

The Contribution of GWAS Loci in Familial Dyslipidemias.

Plos Genetics

P Ripatti, JT Rämö, S Söderlund, I Surakka, N Matikainen, M Pirinen, P Pajukanta, AP Sarin, SK Service, PP Laurila, C Ehnholm, V Salomaa, RK Wilson, A Palotie, NB Freimer, MR Taskinen, S Ripatti

Publication Date: 2016-05

Variant appearance in text: rs28362286

PubMed Link: 27227539

Variant Present in the following documents:

• pgen.1006078.s008.pdf

View BVdb publication page

---

LDLR and PCSK9 Are Associated with the Presence of Antiphospholipid Antibodies and the Development of Thrombosis in aPLA Carriers.

Plos One

E Ochoa, M Iriondo, C Manzano, A Fullaondo, I Villar, G Ruiz-Irastorza, AM Zubiaga, A Estonba

Publication Date: 2016

Variant appearance in text: rs28362286

PubMed Link: 26820623

Variant Present in the following documents:

• pone.0146990.s002.doc

View BVdb publication page

---

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Genome Medicine

A Patwardhan, J Harris, N Leng, G Bartha, DM Church, S Luo, C Haudenschild, M Pratt, J Zook, M Salit, J Tirch, M Morra, S Chervitz, M Li, M Clark, S Garcia, G Chandratillake, S Kirk, E Ashley, M Snyder, R Altman, C Bustamante, AJ Butte, J West, R Chen

Publication Date: 2015

Variant appearance in text: rs28362286

PubMed Link: 26269718

Variant Present in the following documents:

• 13073_2015_197_MOESM8_ESM.xlsx

View BVdb publication page

---

Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

American Journal Of Human Genetics

MA Coram, Q Duan, TJ Hoffmann, T Thornton, JW Knowles, NA Johnson, HM Ochs-Balcom, TA Donlon, LW Martin, CB Eaton, JG Robinson, NJ Risch, X Zhu, C Kooperberg, Y Li, AP Reiner, H Tang

Publication Date: 2013-06-06

Variant appearance in text: rs28362286

PubMed Link: 23726366

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

---

Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability.

Plos Genetics

S Sanna, B Li, A Mulas, C Sidore, HM Kang, AU Jackson, MG Piras, G Usala, G Maninchedda, A Sassu, F Serra, MA Palmas, WH Wood, I Njølstad, M Laakso, K Hveem, J Tuomilehto, TA Lakka, R Rauramaa, M Boehnke, F Cucca, M Uda, D Schlessinger, R Nagaraja, GR Abecasis

Publication Date: 2011-07

Variant appearance in text: rs28362286

PubMed Link: 21829380

Variant Present in the following documents:

• pgen.1002198.s011.docx

View BVdb publication page

---

Alternative transcript annotations:

Transcript	cDNA	Protein	Consequence	Exon	Intron
ENST00000302118.5	c.2037C>T	p.Cys679=	synonymous_variant	12/12	-
ENST00000490692.1	n.2583C>T	-	non_coding_transcript_exon_variant	8/8	-
NM_174936.4	c.2037C>T	p.Cys679=	synonymous_variant	12/12	-
NR_110451.1	n.1644C>T	-	non_coding_transcript_exon_variant	10/10	-