LDLR c.2029_2030delinsAC ;(p.C677T)

Variant ID: 19-11231087-TG-AC

NM_000527.4(LDLR):c.2029_2030delinsAC;(p.C677T)

This variant was identified in 43 publications

View GRCh38 version.




Publications:


Comparison of TCN-2 (776C>G) Gene Polymorphism and Vitamin B12 Status with Different Body Mass Index among Saudi Adults.

Life (Basel, Switzerland)
Ashfaq, Fauzia F; Aljaadi, Abeer M AM; Salaka, Afnan S AS; Noorwali, Essra A EA; Khatoon, Fahmida F; Khan, Mohammad Idreesh MI
Publication Date: 2023-05-15

Variant appearance in text: LDLR: C677T
PubMed Link: 37240829
Variant Present in the following documents:
  • life-13-01185.pdf
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Polymorphisms, diet and nutrigenomics.

Journal Of Preventive Medicine And Hygiene
Kiani, Aysha Karim AK; Bonetti, Gabriele G; Donato, Kevin K; Kaftalli, Jurgen J; Herbst, Karen L KL; Stuppia, Liborio L; Fioretti, Francesco F; Nodari, Savina S; Perrone, Marco M; Chiurazzi, Pietro P; Bellinato, Francesco F; Gisondi, Paolo P; Bertelli, Matteo M
Publication Date: 2022-06

Variant appearance in text: LDLR: C677T
PubMed Link: 36479483
Variant Present in the following documents:
  • Main text
  • jpmh-2022-02-e125.pdf
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Genetic Determinants of Cardiovascular Disease: The Endothelial Nitric Oxide Synthase 3 (eNOS3), Krüppel-Like Factor-14 (KLF-14), Methylenetetrahydrofolate Reductase (MTHFR), MiRNAs27a and Their Association with the Predisposition and Susceptibility to Coronary Artery Disease.

Life (Basel, Switzerland)
Mir, Rashid R; Elfaki, Imadeldin I; Javid, Jamsheed J; Barnawi, Jameel J; Altayar, Malik A MA; Albalawi, Salem Owaid SO; Jalal, Mohammed M MM; Tayeb, Faris J FJ; Yousif, Aadil A; Ullah, Mohammad Fahad MF; AbuDuhier, Faisel M FM
Publication Date: 2022-11-16

Variant appearance in text: LDLR: C677T
PubMed Link: 36431040
Variant Present in the following documents:
  • life-12-01905.pdf
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The Genetic Architecture of the Etiology of Lower Extremity Peripheral Artery Disease: Current Knowledge and Future Challenges in the Era of Genomic Medicine.

International Journal Of Molecular Sciences
Butnariu, Lăcrămioara Ionela LI; Gorduza, Eusebiu Vlad EV; Florea, Laura L; Țarcă, Elena E; Moisă, Ștefana Maria ȘM; Tradafir, Laura Mihaela LM; Cojocaru, Elena E; Luca, Alina-Costina AC; Stătescu, Laura L; Bădescu, Minerva Codruța MC
Publication Date: 2022-09-09

Variant appearance in text: LDLR: C677T
PubMed Link: 36142394
Variant Present in the following documents:
  • Main text
  • ijms-23-10481.pdf
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Identification of genetic variants related to metabolic syndrome by next-generation sequencing.

Diabetology & Metabolic Syndrome
Lee, Sanghoo S; Kim, Seol-A SA; Hong, Jeonghoon J; Kim, Yejin Y; Hong, Gayeon G; Baik, SaeYun S; Choi, Kyeonghwan K; Lee, Mi-Kyeong MK; Lee, Kyoung-Ryul KR
Publication Date: 2022-08-23

Variant appearance in text: LDLR: Cys677Thr
PubMed Link: 35999587
Variant Present in the following documents:
  • Main text
  • 13098_2022_Article_893.pdf
View BVdb publication page



Female infertility and diet, is there a role for a personalized nutritional approach in assisted reproductive technologies? A Narrative Review.

Frontiers In Nutrition
Kohil, Amira A; Chouliaras, Spyridon S; Alabduljabbar, Shaikha S; Lakshmanan, Arun Prasath AP; Ahmed, Salma Hayder SH; Awwad, Johnny J; Terranegra, Annalisa A
Publication Date: 2022

Variant appearance in text: LDLR: C677T
PubMed Link: 35938101
Variant Present in the following documents:
  • Main text
  • fnut-09-927972.pdf
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Plasma Homocysteine Level Is Independently Associated With Conventional Atherogenic Lipid Profile and Remnant Cholesterol in Adults.

Frontiers In Cardiovascular Medicine
Zhou, Liyuan L; Liu, Jia J; An, Yu Y; Wang, Ying Y; Wang, Guang G
Publication Date: 2022

Variant appearance in text: LDLR: C677T
PubMed Link: 35770226
Variant Present in the following documents:
  • fcvm-09-898305.pdf
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Etiologic Puzzle of Coronary Artery Disease: How Important Is Genetic Component?

Life (Basel, Switzerland)
Butnariu, Lăcrămioara Ionela LI; Florea, Laura L; Badescu, Minerva Codruta MC; Țarcă, Elena E; Costache, Irina-Iuliana II; Gorduza, Eusebiu Vlad EV
Publication Date: 2022-06-09

Variant appearance in text: LDLR: C677T
PubMed Link: 35743896
Variant Present in the following documents:
  • Main text
  • life-12-00865.pdf
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The Promise of Nanotechnology in Personalized Medicine.

Journal Of Personalized Medicine
Alghamdi, Maha Ali MA; Fallica, Antonino N AN; Virzì, Nicola N; Kesharwani, Prashant P; Pittalà, Valeria V; Greish, Khaled K
Publication Date: 2022-04-22

Variant appearance in text: LDLR: C677T
PubMed Link: 35629095
Variant Present in the following documents:
  • Main text
  • jpm-12-00673.pdf
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Personalized Nutrition in the Management of Female Infertility: New Insights on Chronic Low-Grade Inflammation.

Nutrients
Fabozzi, Gemma G; Verdone, Giulia G; Allori, Mariachiara M; Cimadomo, Danilo D; Tatone, Carla C; Stuppia, Liborio L; Franzago, Marica M; Ubaldi, Nicolò N; Vaiarelli, Alberto A; Ubaldi, Filippo Maria FM; Rienzi, Laura L; Gennarelli, Gianluca G
Publication Date: 2022-05-03

Variant appearance in text: LDLR: C677T
PubMed Link: 35565885
Variant Present in the following documents:
  • Main text
  • nutrients-14-01918.pdf
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The Role of Amino Acids in Endothelial Biology and Function.

Cells
Li, Meng M; Wu, Yanqing Y; Ye, Lei L
Publication Date: 2022-04-18

Variant appearance in text: LDLR: C677T
PubMed Link: 35456051
Variant Present in the following documents:
  • cells-11-01372.pdf
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Single-nucleotide polymorphisms as important risk factors of diabetes among Middle East population.

Human Genomics
Akhlaghipour, Iman I; Bina, Amir Reza AR; Mogharrabi, Mohammad Reza MR; Fanoodi, Ali A; Ebrahimian, Amir Reza AR; Khojasteh Kaffash, Soroush S; Babazadeh Baghan, Atefeh A; Khorashadizadeh, Mohammad Erfan ME; Taghehchian, Negin N; Moghbeli, Meysam M
Publication Date: 2022-04-02

Variant appearance in text: LDLR: C677T
PubMed Link: 35366956
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single Nucleotide Polymorphisms in Apolipoprotein B, Apolipoprotein E, and Methylenetetrahydrofolate Reductase Are Associated With Serum Lipid Levels in Northern Chilean Subjects. A Pilot Study.

Frontiers In Genetics
Gálvez, Anita S AS; Ramírez, Hugo H; Placencia, Pablo P; Rojas, Claudio C; Urzúa, Ximena X; Kalergis, Alexis M AM; Salazar, Luis A LA; Escobar-Vera, Jorge J
Publication Date: 2021

Variant appearance in text: LDLR: C677T
PubMed Link: 34616421
Variant Present in the following documents:
  • Main text
  • fgene-12-640956.pdf
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The Role of the Transsulfuration Pathway in Non-Alcoholic Fatty Liver Disease.

Journal Of Clinical Medicine
Werge, Mikkel Parsberg MP; McCann, Adrian A; Galsgaard, Elisabeth Douglas ED; Holst, Dorte D; Bugge, Anne A; Albrechtsen, Nicolai J Wewer NJW; Gluud, Lise Lotte LL
Publication Date: 2021-03-05

Variant appearance in text: LDLR: C677T
PubMed Link: 33807699
Variant Present in the following documents:
  • jcm-10-01081.pdf
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Genetic test for the prescription of diets in support of physical activity.

Acta Bio-Medica : Atenei Parmensis
Naureen, Zakira Z; Miggiano, Giacinto Abele Donato GAD; Aquilanti, Barbara B; Velluti, Valeria V; Matera, Giuseppina G; Gagliardi, Lucilla L; Zulian, Alessandra A; Romanelli, Roberta R; Bertelli, Matteo M
Publication Date: 2020-11-09

Variant appearance in text: LDLR: C677T
PubMed Link: 33170161
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence of the methylenetetrahydrofolate reductase 677C>T polymorphism in the pregnant women of Yunnan Province, China.

Medicine
Pi, Ting T; Liang, Yue-Qin YQ; Xia, Hong-Ying HY; Liu, Yan-Qiu YQ; You, Li-Na LN; Zhu, Zhuo Z; Wang, Li L; Gu, Xi X; Jin, Xing-Fang XF
Publication Date: 2020-11-06

Variant appearance in text: LDLR: C677T
PubMed Link: 33157923
Variant Present in the following documents:
  • medi-99-e22771.pdf
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A Regionalized Genome-Based Mexican Diet Improves Anthropometric and Metabolic Parameters in Subjects at Risk for Obesity-Related Chronic Diseases.

Nutrients
Ojeda-Granados, Claudia C; Panduro, Arturo A; Rivera-Iñiguez, Ingrid I; Sepúlveda-Villegas, Maricruz M; Roman, Sonia S
Publication Date: 2020-02-28

Variant appearance in text: LDLR: C677T
PubMed Link: 32121184
Variant Present in the following documents:
  • nutrients-12-00645.pdf
View BVdb publication page



A Review of Dietary (Phyto)Nutrients for Glutathione Support.

Nutrients
Minich, Deanna M DM; Brown, Benjamin I BI
Publication Date: 2019-09-03

Variant appearance in text: LDLR: C677T
PubMed Link: 31484368
Variant Present in the following documents:
  • nutrients-11-02073.pdf
View BVdb publication page



Identifying genetic markers associated with susceptibility to cardiovascular diseases.

Future Science Oa
Shukla, Hitesh H; Mason, Jessica Louise JL; Sabyah, Abdullah A
Publication Date: 2019-01

Variant appearance in text: LDLR: C677T
PubMed Link: 30652019
Variant Present in the following documents:
  • fsoa-05-350.pdf
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Japan Atherosclerosis Society (JAS) Guidelines for Prevention of Atherosclerotic Cardiovascular Diseases 2017.

Journal Of Atherosclerosis And Thrombosis
Kinoshita, Makoto M; Yokote, Koutaro K; Arai, Hidenori H; Iida, Mami M; Ishigaki, Yasushi Y; Ishibashi, Shun S; Umemoto, Seiji S; Egusa, Genshi G; Ohmura, Hirotoshi H; Okamura, Tomonori T; Kihara, Shinji S; Koba, Shinji S; Saito, Isao I; Shoji, Tetsuo T; Daida, Hiroyuki H; Tsukamoto, Kazuhisa K; Deguchi, Juno J; Dohi, Seitaro S; Dobashi, Kazushige K; Hamaguchi, Hirotoshi H; Hara, Masumi M; Hiro, Takafumi T; Biro, Sadatoshi S; Fujioka, Yoshio Y; Maruyama, Chizuko C; Miyamoto, Yoshihiro Y; Murakami, Yoshitaka Y; Yokode, Masayuki M; Yoshida, Hiroshi H; Rakugi, Hiromi H; Wakatsuki, Akihiko A; Yamashita, Shizuya S; ,
Publication Date: 2018-09-01

Variant appearance in text: LDLR: C677T
PubMed Link: 30135334
Variant Present in the following documents:
  • jat-25-846.pdf
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Tailoring Nutritional Advice for Mexicans Based on Prevalence Profiles of Diet-Related Adaptive Gene Polymorphisms.

Journal Of Personalized Medicine
Ojeda-Granados, Claudia C; Panduro, Arturo A; Gonzalez-Aldaco, Karina K; Sepulveda-Villegas, Maricruz M; Rivera-Iñiguez, Ingrid I; Roman, Sonia S
Publication Date: 2017-11-10

Variant appearance in text: LDLR: C677T
PubMed Link: 29125573
Variant Present in the following documents:
  • jpm-07-00016.pdf
View BVdb publication page



The association of lipid metabolism relative gene polymorphisms and ischemic stroke in Han and Uighur population of Xinjiang.

Lipids In Health And Disease
Yue, Yun-Hua YH; Liu, Ling-Yun LY; Hu, Liang L; Li, You-Mei YM; Mao, Jie-Ping JP; Yang, Xiao-Ying XY; Dila, Na-Mu NM
Publication Date: 2017-06-17

Variant appearance in text: LDLR: C677T
PubMed Link: 28623937
Variant Present in the following documents:
  • 12944_2017_Article_491.pdf
View BVdb publication page



Genetic and Epigenetic Regulation of Aortic Aneurysms.

Biomed Research International
Kim, Ha Won HW; Stansfield, Brian K BK
Publication Date: 2017

Variant appearance in text: LDLR: C677T
PubMed Link: 28116311
Variant Present in the following documents:
  • Main text
  • BMRI2017-7268521.pdf
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Atherosclerotic and thrombotic genetic and environmental determinants in Egyptian coronary artery disease patients: a pilot study.

Bmc Cardiovascular Disorders
Fawzy, Manal S MS; Toraih, Eman A EA; Aly, Nagwa M NM; Fakhr-Eldeen, Abeer A; Badran, Dahlia I DI; Hussein, Mohammad H MH
Publication Date: 2017-01-13

Variant appearance in text: LDLR: C677T
PubMed Link: 28086795
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic susceptibility to cerebrovascular disease.

Current Opinion In Lipidology
Della-Morte, David D; Pacifici, Francesca F; Rundek, Tatjana T
Publication Date: 2016-04

Variant appearance in text: LDLR: C677T
PubMed Link: 26959706
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of coronary artery disease and myocardial infarction.

World Journal Of Cardiology
Dai, Xuming X; Wiernek, Szymon S; Evans, James P JP; Runge, Marschall S MS
Publication Date: 2016-01-26

Variant appearance in text: LDLR: C677T
PubMed Link: 26839654
Variant Present in the following documents:
  • Main text
View BVdb publication page



High Incidence of ACE/PAI-1 in Association to a Spectrum of Other Polymorphic Cardiovascular Genes Involving PBMCs Proinflammatory Cytokines in Hypertensive Hypercholesterolemic Patients: Reversibility with a Combination of ACE Inhibitor and Statin.

Plos One
AlBacha, Jeanne d'Arc Jd; Khoury, Mira M; Mouawad, Charbel C; Haddad, Katia K; Hamoui, Samar S; Azar, Albert A; Fajloun, Ziad Z; Makdissy, Nehman N
Publication Date: 2015

Variant appearance in text: LDLR: C677T
PubMed Link: 25973747
Variant Present in the following documents:
  • Main text
  • pone.0127266.pdf
View BVdb publication page



Genetics of coronary artery disease - a clinician's perspective.

Indian Heart Journal
Sasidhar, Manda V MV; Reddy, Satyajit S; Naik, Ashutosh A; Naik, Sudhir S
Publication Date: 2014

Variant appearance in text: LDLR: C677T
PubMed Link: 25634402
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of CVD candidate gene polymorphisms with ischemic stroke and cerebral hemorrhage in Chinese individuals.

Plos One
Ou, Wenjing W; Liu, Xin X; Shen, Yue Y; Li, Jiana J; He, Lingbin L; Yuan, Yuan Y; Tan, Xuerui X; Liu, Lisheng L; Zhao, Jingbo J; Wang, Xingyu X
Publication Date: 2014

Variant appearance in text: LDLR: C677T
PubMed Link: 25144711
Variant Present in the following documents:
  • pone.0105516.pdf
View BVdb publication page



Genetics of ischemic stroke in young adults.

Circulation. Cardiovascular Genetics
Cheng, Yu-Ching YC; Cole, John W JW; Kittner, Steven J SJ; Mitchell, Braxton D BD
Publication Date: 2014-06

Variant appearance in text: LDLR: C677T
PubMed Link: 24951665
Variant Present in the following documents:
  • Main text
View BVdb publication page



Frequency of APOE, MTHFR and ACE polymorphisms in the Zambian population.

Bmc Research Notes
Atadzhanov, Masharip M; Mwaba, Mwila H MH; Mukomena, Patrice N PN; Lakhi, Shabir S; Mwaba, Peter P; Rayaprolu, Sruti S; Meschia, James F JF; Ross, Owen A OA
Publication Date: 2014-03-28

Variant appearance in text: LDLR: C677T
PubMed Link: 24679048
Variant Present in the following documents:
  • 1756-0500-7-194.pdf
View BVdb publication page



Genetic insights into cardiometabolic risk factors.

The Clinical Biochemist. Reviews
Whitfield, John B JB
Publication Date: 2014-02

Variant appearance in text: LDLR: C677T
PubMed Link: 24659834
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Novel Mathematical Approach to Define the Genes/SNPs Conferring Risk or Protection in Sporadic Amyotrophic Lateral Sclerosis Based on Auto Contractive Map Neural Networks and Graph Theory.

Neurology Research International
Buscema, Massimo M; Penco, Silvana S; Grossi, Enzo E
Publication Date: 2012

Variant appearance in text: LDLR: C677T
PubMed Link: 22934166
Variant Present in the following documents:
  • NRI2012-478560.pdf
View BVdb publication page



Large-scale gene-centric analysis identifies novel variants for coronary artery disease.

Plos Genetics
,
Publication Date: 2011-09

Variant appearance in text: LDLR: C677T
PubMed Link: 21966275
Variant Present in the following documents:
  • pgen.1002260.s008.pdf
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Usefulness of Mendelian randomization in observational epidemiology.

International Journal Of Environmental Research And Public Health
Bochud, Murielle M; Rousson, Valentin V
Publication Date: 2010-03

Variant appearance in text: LDLR: C677T
PubMed Link: 20616999
Variant Present in the following documents:
  • ijerph-07-00711.pdf
View BVdb publication page



Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.

Genomics Insights
Driss, A A; Asare, K O KO; Hibbert, J M JM; Gee, B E BE; Adamkiewicz, T V TV; Stiles, J K JK
Publication Date: 2009-07-30

Variant appearance in text: LDLR: C677T
PubMed Link: 20401335
Variant Present in the following documents:
  • Main text
View BVdb publication page



Personalized medicine in coronary artery disease: insights from genomic research.

Korean Circulation Journal
Lee, Sang-Hak SH; Shin, Dong-Jik DJ; Jang, Yangsoo Y
Publication Date: 2009-04

Variant appearance in text: LDLR: C677T
PubMed Link: 19949601
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association studies for atherosclerotic vascular disease and its risk factors.

Circulation. Cardiovascular Genetics
Ding, Keyue K; Kullo, Iftikhar J IJ
Publication Date: 2009-02

Variant appearance in text: LDLR: C677T
PubMed Link: 19750184
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mendelian randomization in nutritional epidemiology.

Nutrition Reviews
Qi, Lu L
Publication Date: 2009-08

Variant appearance in text: LDLR: C677T
PubMed Link: 19674341
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of interacting networks of cardiovascular risk genes on the risk of type 2 diabetes mellitus (the CODAM study).

Bmc Medical Genetics
van Greevenbroek, Marleen M J MM; Zhang, Jian J; Kallen, Carla J H van der CJ; Schiffers, Paul M H PM; Feskens, Edith J M EJ; de Bruin, Tjerk W A TW
Publication Date: 2008-04-24

Variant appearance in text: LDLR: C677T
PubMed Link: 18433508
Variant Present in the following documents:
  • Main text
  • 1471-2350-9-36.pdf
View BVdb publication page



Proceedings of the 10th Asian Pacific Congress of Clinical Biochemistry in conjunction with the Australasian Association of Clinical Biochemists' 42nd Annual Scientific Conference.

The Clinical Biochemist. Reviews
Publication Date: 2004

Variant appearance in text: LDLR: C677T
PubMed Link: 18392121
Variant Present in the following documents:
  • Main text
View BVdb publication page



Search for haplotype interactions that influence susceptibility to type 1 diabetes, through use of unphased genotype data.

American Journal Of Human Genetics
Zhang, Jian J; Liang, Faming F; Dassen, Willem R M WR; Veldman, Bart A J BA; Doevendans, Pieter A PA; De Gunst, Mathisca M
Publication Date: 2003-12

Variant appearance in text: LDLR: C677T
PubMed Link: 14639528
Variant Present in the following documents:
  • Main text
View BVdb publication page