LCAT c.694T>G ;(p.S232A)

Variant ID: 16-67976320-A-C

NM_000229.1(LCAT):c.694T>G;(p.S232A)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


HDL in Atherosclerotic Cardiovascular Disease: In Search of a Role.

Cells
Casula, Manuela M; Colpani, Ornella O; Xie, Sining S; Catapano, Alberico L AL; Baragetti, Andrea A
Publication Date: 2021-07-23

Variant appearance in text: rs4986970
PubMed Link: 34440638
Variant Present in the following documents:
  • Main text
  • cells-10-01869.pdf
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Genetically Mediated Lipid Metabolism and Risk of Insulin Resistance: Insights from Mendelian Randomization Studies.

Journal Of Lipid And Atherosclerosis
Bu, So Young SY
Publication Date: 2019-09

Variant appearance in text: rs4986970
PubMed Link: 32821703
Variant Present in the following documents:
  • Main text
  • jla-8-132.pdf
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Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.

Jama Cardiology
Björnsson, Eythór E; Thorleifsson, Guðmar G; Helgadóttir, Anna A; Guðnason, Thórarinn T; Guðbjartsson, Tómas T; Andersen, Karl K; Grétarsdóttir, Sólveig S; Ólafsson, Ísleifur Í; Tragante, Vinicius V; Ólafsson, Ólafur Hreiðar ÓH; Jónsdóttir, Birna B; Eyjólfsson, Guðmundur I GI; Sigurðardóttir, Ólöf Ó; Thorgeirsson, Guðmundur G; Guðbjartsson, Daníel F DF; Thorsteinsdóttir, Unnur U; Hólm, Hilma H; Stefánsson, Kári K
Publication Date: 2020-01-01

Variant appearance in text: rs4986970
PubMed Link: 31746962
Variant Present in the following documents:
  • jamacardiol-5-13-s001.pdf
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Unravelling HDL-Looking beyond the Cholesterol Surface to the Quality Within.

International Journal Of Molecular Sciences
Kajani, Sarina S; Curley, Sean S; McGillicuddy, Fiona C FC
Publication Date: 2018-07-06

Variant appearance in text: rs4986970
PubMed Link: 29986413
Variant Present in the following documents:
  • Main text
  • ijms-19-01971.pdf
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Polymorphisms of lipid metabolism enzyme-coding genes in patients with diabetic dyslipidemia.

Anatolian Journal Of Cardiology
Tetik Vardarlı, Aslı A; Harman, Ece E; Bozok Çetintaş, Vildan V; Kayıkçıoğlu, Meral M; Vardarlı, Egemen E; Zengi, Ayhan A; Küçükaslan, Ali Şahin AŞ; Eroğlu, Zuhal Z
Publication Date: 2017-04

Variant appearance in text: rs4986970
PubMed Link: 28315561
Variant Present in the following documents:
  • Main text
  • AJC-17-313.pdf
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Analysis with the exome array identifies multiple new independent variants in lipid loci.

Human Molecular Genetics
Kanoni, Stavroula S; Masca, Nicholas G D NG; Stirrups, Kathleen E KE; Varga, Tibor V TV; Warren, Helen R HR; Scott, Robert A RA; Southam, Lorraine L; Zhang, Weihua W; Yaghootkar, Hanieh H; Müller-Nurasyid, Martina M; Couto Alves, Alexessander A; Strawbridge, Rona J RJ; Lataniotis, Lazaros L; An Hashim, Nikman N; Besse, Céline C; Boland, Anne A; Braund, Peter S PS; Connell, John M JM; Dominiczak, Anna A; Farmaki, Aliki-Eleni AE; Franks, Stephen S; Grallert, Harald H; Jansson, Jan-Håkan JH; Karaleftheri, Maria M; Keinänen-Kiukaanniemi, Sirkka S; Matchan, Angela A; Pasko, Dorota D; Peters, Annette A; Poulter, Neil N; Rayner, Nigel W NW; Renström, Frida F; Rolandsson, Olov O; Sabater-Lleal, Maria M; Sennblad, Bengt B; Sever, Peter P; Shields, Denis D; Silveira, Angela A; Stanton, Alice V AV; Strauch, Konstantin K; Tomaszewski, Maciej M; Tsafantakis, Emmanouil E; Waldenberger, Melanie M; Blakemore, Alexandra I F AI; Dedoussis, George G; Escher, Stefan A SA; Kooner, Jaspal S JS; McCarthy, Mark I MI; Palmer, Colin N A CN; , ; Hamsten, Anders A; Caulfield, Mark J MJ; Frayling, Timothy M TM; Tobin, Martin D MD; Jarvelin, Marjo-Riitta MR; Zeggini, Eleftheria E; Gieger, Christian C; Chambers, John C JC; Wareham, Nick J NJ; Munroe, Patricia B PB; Franks, Paul W PW; Samani, Nilesh J NJ; Deloukas, Panos P
Publication Date: 2016-09-15

Variant appearance in text: rs4986970
PubMed Link: 27466198
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs4986970
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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Diet and lifestyle factors modify immune/inflammation response genes to alter breast cancer risk and prognosis: the Breast Cancer Health Disparities Study.

Mutation Research
Slattery, Martha L ML; Lundgreen, Abbie A; Torres-Mejia, Gabriela G; Wolff, Roger K RK; Hines, Lisa L; Baumgartner, Kathy K; John, Esther M EM
Publication Date: 2014-12

Variant appearance in text: rs4986970
PubMed Link: 25332681
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene-gene combination effect and interactions among ABCA1, APOA1, SR-B1, and CETP polymorphisms for serum high-density lipoprotein-cholesterol in the Japanese population.

Plos One
Nakamura, Akihiko A; Niimura, Hideshi H; Kuwabara, Kazuyo K; Takezaki, Toshiro T; Morita, Emi E; Wakai, Kenji K; Hamajima, Nobuyuki N; Nishida, Yuichiro Y; Turin, Tanvir Chowdhury TC; Suzuki, Sadao S; Ohnaka, Keizo K; Uemura, Hirokazu H; Ozaki, Etsuko E; Hosono, Satoyo S; Mikami, Haruo H; Kubo, Michiaki M; Tanaka, Hideo H
Publication Date: 2013

Variant appearance in text: rs4986970
PubMed Link: 24376512
Variant Present in the following documents:
  • Main text
  • pone.0082046.pdf
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Common Variants in 6 Lipid-Related Genes Discovered by High-Resolution DNA Melting Analysis and Their Association with Plasma Lipids.

Journal Of Clinical & Experimental Cardiology
Carlquist, John F JF; McKinney, Jason T JT; Horne, Benjamin D BD; Camp, Nicola J NJ; Cannon-Albright, Lisa L; Muhlestein, Joseph B JB; Hopkins, Paul P; Clarke, Jessica L JL; Mower, Chrissa P CP; Park, James J JJ; Nicholas, Zachary P ZP; Huntinghouse, John A JA; Anderson, Jeffrey L JL
Publication Date: 2011-07-10

Variant appearance in text: rs4986970
PubMed Link: 22229114
Variant Present in the following documents:
  • Main text
View BVdb publication page



Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study.

Journal Of Epidemiology
Wakai, Kenji K; Hamajima, Nobuyuki N; Okada, Rieko R; Naito, Mariko M; Morita, Emi E; Hishida, Asahi A; Kawai, Sayo S; Nishio, Kazuko K; Yin, Guang G; Asai, Yatami Y; Matsuo, Keitaro K; Hosono, Satoyo S; Ito, Hidemi H; Watanabe, Miki M; Kawase, Takakazu T; Suzuki, Takeshi T; Tajima, Kazuo K; Tanaka, Keitaro K; Higaki, Yasuki Y; Hara, Megumi M; Imaizumi, Takeshi T; Taguchi, Naoto N; Nakamura, Kazuyo K; Nanri, Hinako H; Sakamoto, Tatsuhiko T; Horita, Mikako M; Shinchi, Koichi K; Kita, Yoshikuni Y; Turin, Tanvir Chowdhury TC; Rumana, Nahid N; Matsui, Kenji K; Miura, Katsuyuki K; Ueshima, Hirotsugu H; Takashima, Naoyuki N; Nakamura, Yasuyuki Y; Suzuki, Sadao S; Ando, Ryosuke R; Hosono, Akihiro A; Imaeda, Nahomi N; Shibata, Kiyoshi K; Goto, Chiho C; Hattori, Nami N; Fukatsu, Mitsuru M; Yamada, Tamaki T; Tokudome, Shinkan S; Takezaki, Toshiro T; Niimura, Hideshi H; Hirasada, Kazuyo K; Nakamura, Akihiko A; Tatebo, Masaya M; Ogawa, Shin S; Tsunematsu, Noriko N; Chiba, Shirabe S; Mikami, Haruo H; Kono, Suminori S; Ohnaka, Keizo K; Takayanagi, Ryoichi R; Watanabe, Yoshiyuki Y; Ozaki, Etsuko E; Shigeta, Masako M; Kuriyama, Nagato N; Yoshikawa, Aya A; Matsui, Daisuke D; Watanabe, Isao I; Inoue, Kaoru K; Ozasa, Kotaro K; Mitani, Satoko S; Arisawa, Kokichi K; Uemura, Hirokazu H; Hiyoshi, Mineyoshi M; Takami, Hidenobu H; Yamaguchi, Miwa M; Nakamoto, Mariko M; Takeda, Hideo H; Kubo, Michiaki M; Tanaka, Hideo H; ,
Publication Date: 2011

Variant appearance in text: rs4986970
PubMed Link: 21467728
Variant Present in the following documents:
  • Main text
  • je-21-223.pdf
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Strategies and issues in the detection of pathway enrichment in genome-wide association studies.

Human Genetics
Hong, Mun-Gwan MG; Pawitan, Yudi Y; Magnusson, Patrik K E PK; Prince, Jonathan A JA
Publication Date: 2009-08

Variant appearance in text: rs4986970
PubMed Link: 19408013
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

Experimental Gerontology
Boes, Eva E; Coassin, Stefan S; Kollerits, Barbara B; Heid, Iris M IM; Kronenberg, Florian F
Publication Date: 2009-03

Variant appearance in text: rs4986970
PubMed Link: 19041386
Variant Present in the following documents:
  • Main text
View BVdb publication page