PLTP c.703C>T ;(p.R235W)

Variant ID: 20-44534909-G-A

NM_006227.3(PLTP):c.703C>T;(p.R235W)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

Plos Genetics
Wu, Ying Y; Waite, Lindsay L LL; Jackson, Anne U AU; Sheu, Wayne H-H WH; Buyske, Steven S; Absher, Devin D; Arnett, Donna K DK; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Carty, Cara L CL; Cheng, Iona I; Cochran, Barbara B; Croteau-Chonka, Damien C DC; Dumitrescu, Logan L; Eaton, Charles B CB; Franceschini, Nora N; Guo, Xiuqing X; Henderson, Brian E BE; Hindorff, Lucia A LA; Kim, Eric E; Kinnunen, Leena L; Komulainen, Pirjo P; Lee, Wen-Jane WJ; Le Marchand, Loic L; Lin, Yi Y; Lindström, Jaana J; Lingaas-Holmen, Oddgeir O; Mitchell, Sabrina L SL; Narisu, Narisu N; Robinson, Jennifer G JG; Schumacher, Fred F; Stančáková, Alena A; Sundvall, Jouko J; Sung, Yun-Ju YJ; Swift, Amy J AJ; Wang, Wen-Chang WC; Wilkens, Lynne L; Wilsgaard, Tom T; Young, Alicia M AM; Adair, Linda S LS; Ballantyne, Christie M CM; Bůžková, Petra P; Chakravarti, Aravinda A; Collins, Francis S FS; Duggan, David D; Feranil, Alan B AB; Ho, Low-Tone LT; Hung, Yi-Jen YJ; Hunt, Steven C SC; Hveem, Kristian K; Juang, Jyh-Ming J JM; Kesäniemi, Antero Y AY; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lee, I-Te IT; Leppert, Mark F MF; Matise, Tara C TC; Moilanen, Leena L; Njølstad, Inger I; Peters, Ulrike U; Quertermous, Thomas T; Rauramaa, Rainer R; Rotter, Jerome I JI; Saramies, Jouko J; Tuomilehto, Jaakko J; Uusitupa, Matti M; Wang, Tzung-Dau TD; Boehnke, Michael M; Haiman, Christopher A CA; Chen, Yii-Der I YD; Kooperberg, Charles C; Assimes, Themistocles L TL; Crawford, Dana C DC; Hsiung, Chao A CA; North, Kari E KE; Mohlke, Karen L KL
Publication Date: 2013-03

Variant appearance in text: PLTP: R235W
PubMed Link: 23555291
Variant Present in the following documents:
  • Main text
  • pgen.1003379.pdf
View BVdb publication page



Genetic causes of high and low serum HDL-cholesterol.

Journal Of Lipid Research
Weissglas-Volkov, Daphna D; Pajukanta, Päivi P
Publication Date: 2010-08

Variant appearance in text: PLTP: R235W
PubMed Link: 20421590
Variant Present in the following documents:
  • Main text
View BVdb publication page



Plasma PLTP activity is inversely associated with HDL-C levels.

Nutrition & Metabolism
Chen, Xueying X; Sun, Aijun A; Mansoor, Ather A; Zou, Yunzeng Y; Ge, Junbo J; Lazar, Jason M JM; Jiang, Xian-Cheng XC
Publication Date: 2009-11-30

Variant appearance in text: PLTP: R235W
PubMed Link: 19948027
Variant Present in the following documents:
  • Main text
  • 1743-7075-6-49.pdf
View BVdb publication page



Genetic variation in phospholipid transfer protein modulates lipoprotein profiles in hyperalphalipoproteinemia.

Metabolism: Clinical And Experimental
Engler, Mary B MB; Pullinger, Clive R CR; Malloy, Mary J MJ; Natanzon, Yanina Y; Kulkarni, Medha V MV; Song, James J; Eng, Celeste C; Huuskonen, Jaarko J; Rivera, Christopher C; Poon, Annie A; Bensley, Matt M; Sehnert, Amy A; Zellner, Christian C; Kane, John J; Aouizerat, Bradley E BE
Publication Date: 2008-12

Variant appearance in text: PLTP: R235W
PubMed Link: 19013296
Variant Present in the following documents:
  • Main text
View BVdb publication page