LPL c.405G>A ;(p.V135=)

Variant ID: 8-19809435-G-A

NM_000237.2(LPL):c.405G>A;(p.V135=)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25

Variant appearance in text: LPL: V135V; rs1121923
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Biochemical, Clinical, and Genetic Characteristics of Mexican Patients with Primary Hypertriglyceridemia, Including the First Case of Hyperchylomicronemia Syndrome Due to GPIHBP1 Deficiency.

International Journal Of Molecular Sciences
Rodríguez-Gutiérrez, Perla Graciela PG; Colima-Fausto, Ana Gabriela AG; Zepeda-Olmos, Paola Montserrat PM; Hernández-Flores, Teresita de Jesús TJ; González-García, Juan Ramón JR; Magaña-Torres, María Teresa MT
Publication Date: 2022-12-27

Variant appearance in text: LPL: 405G>A; V135=; rs1121923
PubMed Link: 36613909
Variant Present in the following documents:
  • ijms-24-00465.pdf
View BVdb publication page



Current Understanding on the Genetic Basis of Key Metabolic Disorders: A Review.

Biology
Rodrigues, Kenneth Francis KF; Yong, Wilson Thau Lym WTL; Bhuiyan, Md Safiul Alam MSA; Siddiquee, Shafiquzzaman S; Shah, Muhammad Dawood MD; Venmathi Maran, Balu Alagar BA
Publication Date: 2022-09-02

Variant appearance in text: rs1121923
PubMed Link: 36138787
Variant Present in the following documents:
  • biology-11-01308.pdf
View BVdb publication page



LPL, FNDC5 and PPARγ gene polymorphisms related to body composition parameters and lipid metabolic profile in adolescents from Southern Italy.

Journal Of Translational Medicine
Perrone, Benedetta B; Ruffo, Paola P; Zelasco, Samanta S; Giordano, Cinzia C; Morelli, Catia C; Barone, Ines I; Catalano, Stefania S; Andò, Sebastiano S; Sisci, Diego D; Tripepi, Giovanni G; Mammì, Corrado C; Bonofiglio, Daniela D; Conforti, Francesca Luisa FL
Publication Date: 2022-03-03

Variant appearance in text: LPL: 405G>A; Val135=; rs1121923
PubMed Link: 35241092
Variant Present in the following documents:
  • Main text
  • 12967_2022_3314_MOESM2_ESM.pdf
  • 12967_2022_Article_3314.pdf
View BVdb publication page



Common Genetic Variations Involved in the Inter-Individual Variability of Circulating Cholesterol Concentrations in Response to Diets: A Narrative Review of Recent Evidence.

Nutrients
Abdullah, Mohammad M H MMH; Vazquez-Vidal, Itzel I; Baer, David J DJ; House, James D JD; Jones, Peter J H PJH; Desmarchelier, Charles C
Publication Date: 2021-02-22

Variant appearance in text: rs1121923
PubMed Link: 33671529
Variant Present in the following documents:
  • Main text
  • nutrients-13-00695.pdf
View BVdb publication page



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
Publication Date: 2020-02-10

Variant appearance in text: LPL: 405G>A; Val135=
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: LPL: 405G>A
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Gene Lifestyle Interactions With Relation to Obesity, Cardiometabolic, and Cardiovascular Traits Among South Asians.

Frontiers In Endocrinology
Ahmad, Shafqat S; Fatima, Syeda Sadia SS; Rukh, Gull G; Smith, Caren E CE
Publication Date: 2019

Variant appearance in text: rs1121923
PubMed Link: 31024458
Variant Present in the following documents:
  • Main text
  • fendo-10-00221.pdf
View BVdb publication page



Genetic association of LPL rs1121923 and rs258 with plasma TG and VLDL levels.

Scientific Reports
Al-Bustan, Suzanne A SA; Al-Serri, Ahmad A; Alnaqeeb, Majed A MA; Annice, Babitha G BG; Mojiminiyi, Olusegun O
Publication Date: 2019-04-03

Variant appearance in text: rs1121923
PubMed Link: 30944368
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_42021.pdf
View BVdb publication page



A novel LPL intronic variant: g.18704C>A identified by re-sequencing Kuwaiti Arab samples is associated with high-density lipoprotein, very low-density lipoprotein and triglyceride lipid levels.

Plos One
Al-Bustan, Suzanne A SA; Al-Serri, Ahmad A; Annice, Babitha G BG; Alnaqeeb, Majed A MA; Al-Kandari, Wafa Y WY; Dashti, Mohammed M
Publication Date: 2018

Variant appearance in text: rs1121923
PubMed Link: 29438437
Variant Present in the following documents:
  • Main text
  • pone.0192617.pdf
View BVdb publication page



Bicodon bias can determine the role of synonymous SNPs in human diseases.

Bmc Genomics
McCarthy, Christina C; Carrea, Alejandra A; Diambra, Luis L
Publication Date: 2017-03-13

Variant appearance in text: rs1121923
PubMed Link: 28288557
Variant Present in the following documents:
  • Main text
View BVdb publication page



High fat diet modifies the association of lipoprotein lipase gene polymorphism with high density lipoprotein cholesterol in an Asian Indian population.

Nutrition & Metabolism
Ayyappa, K A KA; Shatwan, I I; Bodhini, D D; Bramwell, L R LR; Ramya, K K; Sudha, V V; Anjana, R M RM; Lovegrove, J A JA; Mohan, V V; Radha, V V; Vimaleswaran, K S KS
Publication Date: 2017

Variant appearance in text: LPL: Val135Val; rs1121923
PubMed Link: 28115978
Variant Present in the following documents:
  • Main text
  • 12986_2016_Article_155.pdf
View BVdb publication page



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: LPL: V135V; rs1121923
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Application of statistical and functional methodologies for the investigation of genetic determinants of coronary heart disease biomarkers: lipoprotein lipase genotype and plasma triglycerides as an exemplar.

Human Molecular Genetics
Smith, Andrew J P AJ; Palmen, Jutta J; Putt, Wendy W; Talmud, Philippa J PJ; Humphries, Steve E SE; Drenos, Fotios F
Publication Date: 2010-10-15

Variant appearance in text: rs1121923
PubMed Link: 20650961
Variant Present in the following documents:
  • Main text
  • supp_ddq308_ddq308supp.pdf
  • ddq308.pdf
View BVdb publication page



Genetic variation in APOJ, LPL, and TNFRSF10B affects plasma fatty acid distribution in Alaskan Eskimos.

The American Journal Of Clinical Nutrition
Voruganti, V Saroja VS; Cole, Shelley A SA; Ebbesson, Sven O E SO; Göring, Harald H H HH; Haack, Karin K; Laston, Sandra S; Wenger, Charlotte R CR; Tejero, M Elizabeth ME; Devereux, Richard B RB; Fabsitz, Richard R RR; MacCluer, Jean W JW; Umans, Jason G JG; Howard, Barbara V BV; Comuzzie, Anthony G AG
Publication Date: 2010-06

Variant appearance in text: rs1121923
PubMed Link: 20410100
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.

Human Molecular Genetics
Drenos, Fotios F; Talmud, Philippa J PJ; Casas, Juan P JP; Smeeth, Liam L; Palmen, Jutta J; Humphries, Steve E SE; Hingorani, Aroon D AD
Publication Date: 2009-06-15

Variant appearance in text: rs1121923
PubMed Link: 19336475
Variant Present in the following documents:
  • ddp159_1.pdf
View BVdb publication page