Said Shamieh

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Said El Shamieh

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Medical Laboratory Technology

H-Index: 15

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Said El Shamieh

Associate Professor

  • BSc in Medical Laboratory Sciences, Lebanese University . 
  • M.Sc. in Molecular, cellular and Structural Biology, Université de Lorraine, France.
  • PhD in Human Genetics, Université de Lorraine, France.
  • 2 years postdoctorate fellowship, Institut de la Vision, Sorbonnes Universités, Pierre et Marie Curie, Paris, France.
  • Research focuses on undergoing genotype - phenotype associations to identify genetic variants being implicated in CVD risk factors and Inherited Retinal diseases.
  • Published more than 50 articles in journals; American Journal of Human Genetics, European Journal of Human Genetics, Human Molecular Genetics, PLoS ONE, Genes, Atherosclerosis, International Journal of Cardiology, Clinica Chimica Acta, IOVS, Pharmacogenomics and BMC Medical Genetics.
  • Co-inventor of the patent WO2013093091.
  • Reviewer for numerous journals such as Scientific Reports, British Journal of Ophtalmology, Genes, Translational Vision Science and Technology, International Journal of Molecular Sciences, Clinica Chimica Acta, Frontiers Cell and Developmental Biology.
  • Guest Editor of the Special issue: Nutrition, Genetics and Cardiovascular Diseases in JCDD 


1 . Jaffal L, Joumaa H, Mrad Z, Zeitz C, Audo I, El Shamieh, S. Genetics of rod-cone dystrophy in the Arab World. European Journal of Human Genetics, 2020.
2 . Chedid P, Salami A, El Shamieh S. The Association of rs1898830 in Toll-Like Receptor 2 with Lipids and Blood Pressure. J Cardiovasc Dev Dis. 2020 Jul 8.
3 . El Ghoch M, El Shamieh S. Is There a Link Between Nutrition, Genetics, and Cardiovascular Disease? J Cardiovasc Dev Dis. 2020 Aug 27.
4 . El Shamieh S, Salami A, Stathopoulou MG, Chedid P, Visvikis-Siest S. Increased risk of hypercholesterolemia in a French and Lebanese population due to an interaction between rs2569190 in CD14 and gender. Clinica Chimica Acta. 2020 Jun 13.
5 . Naja K, Salami A, El Shamieh S, Fakhoury R. rs622342 in SLC22A1, CYP2C9*2 and CYP2C9*3 and Glycemic Response in Individuals with Type 2 Diabetes Mellitus Receiving Metformin/Sulfonylurea Combination Therapy: 6-Month Follow-Up Study. J Pers Med. 2020 Jun 20;10(2):E53.
6 . El Shamieh S,Stathopoulou MG, Bonnefond A, Ndiaye NC, Lecoeur C, Meyre D, Dadé S, Chedid P, Salami A, Shahabi P, Dedoussis G, Froguel P, Visvikis-Siest S. Obesity status modifies the association between rs7556897T>C in the intergenic region SLC19A3-CCL20 and blood pressure in French children. Clinical Chemistry and Laboratory Medicine. 2020 Apr 1.
7 . Moussa S, Saleh F, El Shamieh S, Assi T, Othman A, Farhat F. Detection of PIK3R1 (L449S) Mutation in a Patient with Ovarian Cancer: A Case Report. Case Reports in Oncology 2020. In Press.
8 . Jaffal, L.; Joumaa, W.H.; Assi, A.; Helou, C.; Cherfan, G.; Zibara, K.; Audo, I.; Zeitz, C.; El Shamieh, S. Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet–Biedl and Usher Syndromes. Genes 2019, 10, 1047.
9 . Salami A, Costanian C, El Shamieh S. rs2569190A>G in CD14 is Independently Associated with Hypercholesterolemia: A Brief Report. Journal of Cardiovascular Development and Diseases. 2019, 6, 37.
10 . Naja K, El Shamieh S, Fakhoury R. rs622342A>C in SLC22A1 is associated with metformin pharmacokinetics and glycemic response. Drug Metabolism and Pharmacokinetics, 2019 Nov 1.
11 . Masri I, Salami I, El Shamieh S, Bissar Tadmouri N. rs3851179G>A in PICALM is protective against Alzheimer’s disease in five different countries surrounding the Mediterranean. Current Aging Science, 2019 Oct 19.
12 . Boulanger-Scemama E, Mohand-Saïd S, El Shamieh S, Démontant V, Condroyer C, Antonio A, Michiels C, Boyard F, Saraiva JP, Letexier M, Sahel JA, Zeitz C, Audo I. Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies. International Journal of Molecular Sciences. 2019 Sep 30;20(19).
13 . Salami A, El Shamieh S. Association between SNPs of Circulating Vascular Endothelial Growth Factor Levels, Hypercholesterolemia and Metabolic Syndrome. Medicina. 2019 Aug 11;55(8).
14 . Gorenjak V, Vance D.R, Petrelis A, Stathopoulou MG, Dadé S, El Shamieh S, Murray H, Masson C, Lamont J, Fitzgerald P, Visvikis-Siest S. Peripheral blood mononuclear cells extracts VEGF protein levels and VEGF mRNA: Associations with inflammatory molecules in a healthy population. PLoS ONE. 2019 Aug 16;14(8).
15 . El Shamieh S*, Saleh F*, Assaad S, Farhat F. Next generation sequencing reveals a nonsense mutation in RB1 that may promote chemo-resistance to palbociclib in ovarian cancer. Drug Metabolism & Personalized Therapy. 2019, May 30;34(2).
16 . Jaffal L, Joumaa W, Assi A, Helou C, Condroyer C, El Dor M, Cherfan G, Zeitz C, Audo I, Zibara K, El Shamieh S. Novel missense mutations in BEST1 are associated with bestrophinopathies in Lebanese patients. Genes, 2019, 10(2), 151.
17 . Assaad S, Costanian C, Jaffal L, Tannous F, Stathopoulou M, El Shamieh S. Association of TLR4 Polymorphisms, Expression, and Vitamin D with Helicobacter pylori Infection. Journal of Personalized Medicine, 2019. Jan 11.
18 . El Shamieh S, Saleh F, Masri N, Fakhoury H, Fakhoury R. The association between ACE I/D polymorphism and the risk of Alzheimer's disease in Lebanon. Meta Gene. 2018, 18:191-194
19 . Nasser M, Chedid P, Salami A, Khalifeh M, El Shamieh S, Joumaa WH. Dataset on significant role of Candesartan on cognitive functions in rats having memory impairment induced by electromagnetic waves. Data Brief. 2018 Nov 26.
20 . El Shamieh S, Costanian C, Kassir R, Visvkis-Siest S, Bissar-Tadmouri N. APOE genotypes in Lebanon: distribution and association with hypercholesterolemia and Alzheimer’s disease. Personalized Medicine. 2018.
21 . Méjécase C, Hummel A, Mohand-Saïd S, Andrieu C, El Shamieh S, Antonio A, Condroyer C, Boyard F, Foussard M, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Zeitz C, Audo I. Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy. Clinical Genetics. 2018 Sep 29.
22 . El Shamieh S, Saleh F, Moussa S, Kattan J, Farhat F. RICTOR gene amplification is correlated with metastasis and therapeutic resistance in triple negative breast cancer. Pharmacogenomics. 2018 Jun 1;19(9):757-760.
23 . Audo I, Mohand-Said S, Boulanger-Scemama E, Zanlonghi E, Condroyer C, Démontant V, Boyard F, Antonio A, Méjécase C, El Shamieh S, Sahel JA, Zeitz C. MERTK mutations account for 1.7% of cases with inherited retinal dystrophies. Human Mutation. 2018 Apr 16.
24 . El Shamieh S†*, Alghalyini B, Salami A, Visvikis Siest S, Fakhoury HM, Fakhoury R. Effect of SLCO1B1 gene polymorphisms and vitamin D on statin-induced myopathy. Drug Metabolism & Personalized Therapy. 2018 Feb 8.
25 . Méjécase C, Mohand-Saïd S, El Shamieh S, Antonio A, Condroyer C, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Audo I, Zeitz C. A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case. Clinical Genetics. 2017 Nov 9.
26 . El Shamieh S, Méjécase C, Bertelli M, Terray A, Michiels C, Condroyer C, Fouquet S, Sadoun M, Clérin E, Liu B, Léveillard T, Goureau O, Sahel JS, Audo I and Zeitz C. Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy. Genes. 2017, 8(10), 277.
27 . El Shamieh S, Saleh F, Fawaz M, Farhat F, Siest G, Visvikis-Siest S. Next Generation Sequencing and Immuno-histochemistry profiling identify numerous biomarkers for personalized therapy of endometrioid endometrial carcinoma. Clinical Chemistry and Laboratory Medicine. 2017 Jul 29.
28 . Akhdar H, El Shamieh S, Musso O, Désert R, Joumaa W, Guyader D, Aninat C, Corlu A, Morel F. The rs3957357C>T SNP in GSTA1 Is Associated with a Higher Risk of Occurrence of Hepatocellular Carcinoma in European Individuals. PLoS One. 2016 Dec 9;11(12).
29 . Audo I, El Shamieh S, Méjécase C, Michiels C, Demontant V, Antonio A, Condroyer C, Boyard F, Letexier M, Saraiva JP, Blanchard S, Mohand-Saïd S, Sahel JS, Zeitz C. ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant. Clinical Genetics. 2016 Oct 28.
30 . Rancier M, Zaaber I, Stathopoulou MG, Chatelin J, Saleh A, Marmouch H, El Shamieh S, Masson C, Murray H, Lamont J, Fitzgerald P, Mahjoub S, Said K, Bel Hadj Jrad Tensaout B, Mestiri S, Visvikis-Siest S. Pro- and anti-angiogenic VEGF mRNAs in autoimmune thyroid diseases. Autoimmunity. 2016 Aug 5:1-7.
31 . Boulanger-Scemama E, El Shamieh S, Démontant V, Condroyer C, Antonio A, Michiels E, Boyard F, Saraiva JP, Letexier M, Souied E, Mohand-Saïd S, Sahel JA, Zeitz C and Audo I. Next-Generation Sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. Orphanet Journal of Rare Diseases. 2015 Jun 24;10:85.
32 . Kikuchi S, Kameya S, Gocho K, El Shamieh S, Akeo K, Sugawara Y, Yamaki K, Zeitz C, Audo I, Takahashi H. Cone dystrophy in patient with homozygous RP1L1 mutation. BioMed Research International. 2015.
33 . El Shamieh S, Boulanger-Scemama E, Lancelot ME, Antonio A, Démontant V, Condroyer C, Letexier M, Saraiva JP, Sahel JA, Audo I, Zeitz C. Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy. BioMed Research International. 2015.
34 . El Shamieh S, Neuillé M, Terray A, Orhan E, Condroyer C, Démontant V, Michiels C, Antonio A, Boyard F, Lancelot ME, Letexier M, Saraiva JP, Léveillard T, Mohand-Saïd S, Goureau O, Sahel JA, Zeitz C, Audo I. Whole exome sequencing identifies KIZ as a ciliary gene underlying autosomal recessive rodcone dystrophy. The American Journal of Human Genetics. 2014. Apr 3;94(4):625-33.
35 . Neuillé M, El Shamieh S, Orhan E, Michiels C, Antonio A, Lancelot ME, Condroyer C, Bujakowska K, Poch O, Sahel JA, Audo I, Zeitz C. Lrit3nob6 a novel mouse model of complete congenital stationary night blindness. PLoS ONE. 2014 Mar 5;9(3).
36 . Siest G, Ndiaye NC, El Shamieh S, Shahabi P, Stathopoulou M, Saleh AS, Godjo T, Albertini L, Visvikis-Siest S. Conference Scene: Systems biology and personalized health science and translation. Pharmacogenomics. 2013 Dec;14(16):1953-64.
37 . Orhan E, Prézeau L, El Shamieh S, Bujakowska KM, Michiels C, Zagar Y, Vol C, Bhattacharya SS, Sahel JA, Sennlaub F, Audo I, Zeitz C. Further insights in GPR179: expression, localization and associated pathogenic mechanisms leading to congenital stationary night blindness. Investigative Ophthalmology Vision Sciences. 2013 Dec 9;54(13):8041-50.
38 . Audo I, Bujakowska K, Orhan E, El Shamieh S, Sennlaub F, Guillonneau X, Antonio A, Michiels C, Lancelot ME, Letexier M, Saraiva JP, Nguyen H, Luu TD, Léveillard T, Poch O, Dollfus H, Paques M, Goureau O, Mohand-Saïd S, Bhattacharya SS, Sahel JA, Zeitz C. The familial dementia gene revisited: a missense mutation revealed by whole exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family. Human Molecular Genetics, 2013 Jan 15;23(2):491-501.
39 . Stathopoulou MG, Monteiro P, Shahabi P, Peñas-Lledó E, El Shamieh S, Silva Santos L, Thilly N, Siest G, Llerena A, Visvikis-Siest S. Newly identified synergy between clopidogrel and calcium-channel blockers for blood pressure regulation possibly involves CYP2C19 rs4244285. International Journal of Cardiology, 2013 Oct 3;168(3):3057-8.
40 . Nivet-Antoine V, Labat C, El Shamieh S, Dulcire X, Cottart CH, Beaudeux JL, Zannad F, Visvikis- Siest S, Benetos A. Relationship between catalase haplotype and arterial aging. Atherosclerosis, 2013 Mar;227(1):100-5.
41 . Ndiaye NC, El Shamieh S, Stathopoulou MG, Siest G, Tsai MY, Visvikis-Siest S. Two epistatic interactions may be involved in blood pressure genetic regulation. BMC Medical Genetics, 2013 Jan 8;14:2.
42 . Stathopoulou MG*, Bonnefond A*, Ndiaye NC*, Azimi Nezhad M, El Shamieh S, Saleh A, Rancier M, Siest G, Lamont J, Fitzgerald P, Visvikis-Siest S. A common variant highly associated with plasma VEGFA levels also contributes to the variation of both LDL-C and HDL-C. Journal of Lipid Research, 2013 Feb;54(2):535-41.
43 . El Shamieh S, Ndiaye NC, Stathopoulou MG, Murray HA, Masson C, Lamont JV, Fitzgerald P, Benetos A, Visvikis-Siest S. Functional epistatic interaction between rs6046G>A in F7 and rs5355C>T in SELE modifies systolic blood pressure levels in 8,220 European individuals. PLoS ONE, 2012;7(7).
44 . El Shamieh S and Visvikis-Siest S. Hypertension genetic biomarkers and future challenges with the emerging of epigenomics. Clinica Chimica Acta, 2012 Dec 24;414:259-65.
45 . Mangino M, Hwang SJ, Spector TD, Hunt SC, Kimura M, Fitzpatrick AL, Christiansen L, Petersen I, Elbers CC, Harris T, Chen W, Srinivasan SR, Kark JD, Benetos A, El Shamieh S, Visvikis-Siest S, Christensen K, Berenson GS, Valdes AM, Viñuela A, Garcia M, Arnett DK, Broeckel U, Province MA, Pankow JS, Kammerer C, Liu Y, Nalls M, Tishkoff S, Thomas F, Ziv E, Psaty BM, Bis JC, Rotter JI, Taylor KD, Smith E, Schork NJ, Levy D, Aviv A. Genome Wide Association points toward CTC1 and ZNF676 as telomere regulating genes. Human Molecular Genetics, 2012 Dec 15;21(24):5385-94.
46 . Froguel P, Ndiaye NC, Bonnefond A, Bouatia-Naji N, Dechaume A, Siest G, Herbeth B, Falchi M, Bottolo L, Guéant-Rodriguez RM, Lecoeur C, Langlois MR, Labrune Y, Ruokonen A, El Shamieh S, Stathopoulou MG, Morandi A, Maffeis C, Meyre D, Delanghe JR, Jacobson P, Sjöström L, Carlsson LM, Walley A, Elliott P, Jarvelin MR, Dedoussis GV, Visvikis-Siest S. A genome-wide association study identifies rs2000999 as a strong genetic determinant of circulating Haptoglobin levels. PLoS ONE, 2012 ;7(3):e32327.
47 . Ndiaye NC*, Azimi-Nezhad M*, El Shamieh S*, Stathopoulou MG*, Visvikis-Siest S. Cardiovascular diseases and Genome-Wide Association Studies. Clinica Chimica Acta, 2011 Sep 18;412(1920):1697- 701. *
48 . Siest G, Nezhad MA, Bagrel D, El Shamieh S, Lambert D, Ndiaye NC, Shahabi P, Visvikis-Siest S. Functional genomics towards personalized healthcare and systems medicine. Personalized Medicine, 2011.
49 . Nzietchueng R*, El Shamieh S* Benachour H, Labat C, Herbeth B, Ndiaye NC, Masson C, Visvikis-Siest S, Benetos A. Klotho KL-VS genotype is involved in blood pressure regulation. Clinica Chimica Acta, 2011 Sep 18;412 (19-20):1773-7.
50 . El Shamieh S, Herbeth B, Azimi-Nezhad M, Benachour H, Masson C, Visvikis-Siest S. Human formyl peptide receptor 1 C32T SNP is associated with increased blood pressure levels Clinica Chimica Acta, 2010 Jan 18;413(1-2):34-8.


Undergraduate Courses:

- Genetics and Molecular Biology (3 Credits).
- Biochemistry (3 Credits)
- Molecular Genetics (1 Credit)
-  Clinical Biochemistry (3 Credits)


Graduate Courses:

- Nutrigenomics (3 Credits).

- Genomics and Proteomics (3 Credits).

Research Interests

  • Genetics of Inherited retinal diseases
  • Genetics of Cardiovascular disease risk factors
  • Next generation and Sanger sequencing



A- Oral presentations:

2018: Genetic and protein profiling of cancer tumors, a first step towards personalized therapy, 9th International Santorini Conference ”Systems medicine and Personalized Health and Therapy”, Santorini, Greece.

2016: Cancer: a Role of Single Nucleotide Polymorphisms and mutations, Workshop ‘New trends in Cancer Research’, Beirut Arab University, Faculty of Sciences, Lebanon.

2014: eMethSNPs; a hypothesis to be tested in the post GWAS era, UniGR-Workshop Systems Biology, Epigenetics & Systems Analysis, Saarbrücken, Germany.

2014: Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy, Fifth annual Young researchers in Life Sciences conference, Paris, France.

2013: Next generation sequencing to determine the prevalence of gene mutations underlying rod-cone dystrophies, International Society for Genetic Eye Diseases & Retinoblastoma, Ghent, Belgium.

2012: eMethSNPs; a hypothesis to be tested in the post GWAS era, 6th Santorini International Conference, Santorini, Greece.

2010: Human FPR1 C32T SNP interacts with age and is associated with blood pressure levels, 4th International Meeting of the French Society of Hypertension, Paris, France.

B- Poster presentations:

2018: Mutated RB1 may promote chemo-resistance to palbociclib in ovarian cancer, 9th Santorini International Conference, Santorini, Greece.

2018: APOE genotypes in Lebanon: Distribution and association with hypercholesterolemia and Alzheimer’s disease, 9th Santorini International Conference, Santorini, Greece.