Image description

Published yearly: 

4 Issues

______________________

ISSN: 2320-964X (Online) 

ISSN: 2320-7817  (Print)

______________________

Editor-in-Chief

Dr. Santosh Pawar 


INDEXED IN

RESEARCH ARTICLE

_______________________________________________________________________________________

Int. Journal of Life Sciences, 2018; 6(1):41-48       |                  Available online, February 24, 2018

Association of SH2B3 (rs3184504) polymorphism in essential hypertensive patients in south Indian population

Jayaseelan Vijayashree Priyadharsini1, Muthusamy Karthikeyan2, Venkatraman Shridevi3, Arumugam Paramasivam4, Gopalswamy Jayaraman5, Thiagarajan Santhiya Sathiyavedu5*

 

 

1Central Research Laboratory, Meenakshi Ammal Dental College and Hospital, Meenakshi Academy of Higher Education and Research, Maduravoyal, Chennai-95.   | 2Department of Bioinformatics, ​​Alagappa University, Karaikudi–630004, Tamil Nadu, India.   |    3IIIT-Hyderabad, Gachibowli, Hyderabad, Telangana 500032,

4Centre for Cellular and Molecular Biology, Hyderabad -500007, Telangana, India

5Department of Genetics, Dr.ALM PGIBMS, University of Madras, Taramani, Chennai-113, Tamil Nadu, India.

Corresponding author: E-mail ID: v_santiya63@hotmail.com  |+91-9444460454

Received : 14.10.2017   |   Accepted : 04.02.2018    |     Published : 24.02.2018

Introduction: Essential hypertension (EH) is considered to be the major risk factor associated with cardiovascular, cerebrovascular and renal diseases. Molecular target identification is the key to the development of drug targets. SNP profiling is a basic method which provides insights into targets associated with disease phenotype. The present study is a case control model used to associate EH with one of the promising cell signalling marker SH2B3 expressed in inflammatory conditions. 

 

Results: The subjects recruited for the study were genotyped for rs3184504 polymorphism of SH2B3 gene. Female subjects with CC genotype were 1.4 times more susceptible to EH than male subjects. A significant association was observed for CC genotype on adjusting BMI (p value = 0.030, OR = 1.455, 95% CI = 1.036 – 2.042) in females. Consequently, the C vs T allele comparison in additive model also showed a significant difference (p value = 0.023, OR = 1.455, 95% CI = 1.036 – 2.042).

 

Conclusion: Although, several drugs have been developed for combating EH, the incident rate of the disease seems to rise over the past few decades. This fact clearly describes the ineffectiveness of current drugs to control BP and lack of awareness among individuals about the available treatment modalities. Personalized medicine designed to match the physiological conditions of the patient based on his genotype could safely and effectively control the disease. In this context, the SH2B3 (rs3184504) polymorphism is considered to be a significant marker associated with EH in south Indian population especially in female subjects.

 

Keywords: Essential hypertension, SH2B3, SNP, ARMS-PCR, Sequencing.

 

_________________________________________________________________________

Editor: Dr.Arvind Chavhan

___________________________________________________________________________________ 

Cite this article as:

Jayaseelan Vijayashree Priyadharsini, Muthusamy Karthikeyan, Venkatraman Shridevi, Arumugam Paramasivam, Gopalswamy Jayaraman, Thiagarajan Santhiya Sathiyavedu(2018) Associa-tion of SH2B3 (rs3184504) polymerphi-sm in essential hypertensive patients in south Indian population, Int. J. of. Life Sciences, Volume 6(1): 41-48. 

____________________________________________________________________________


Conflicts of interest: The authors stated that no conflicts of interest.

____________________________________________________________________________

 

Copyright: © 2018 | Author(s), This is an open access article under the terms of the Creative Commons Attribution-Non-Commercial - No Derives License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

_________________________________________________________________________

Pauletto P, Paolo Pauletto Rattazzi M (2006) Inflammation and hypertension: the search for a link.Marcello Rattazzi Nephrol. Dial. Transplant. 21:850-853.


Devalliere J, Charreau B (2011) The adaptor Lnk (SH2B3): an emerging regulator in vascular cells and a link between immune and inflammatory signaling. Biochem Pharmacol. 82: 1391-402.


Maures TJ, Kurzer JH, Carter-Su C (2007) SH2B1 (SH2-B) and JAK2: a multifunctional adaptor protein and kinase made for each other. Trends. Endocrinol. Metab. 18: 38–4.


Simon C, Dondi E, Chaix A, de Sepulveda P, Kubiseski TJ, et al (2008) Lnk adaptor protein down-regulates specific Kit-induced signaling pathways in primary mast cells. Blood. 112: 4039–47.


Seita J, Ema H, Ooehara J, Yamazaki S, Tadokoro Y, et al (2007) Lnk negatively regulates self-renewal of hematopoietic stem cells by modifying thrombopoietin-mediated signal transduction. Proc. Natl. Acad. Sci. U.S.A. 104: 2349–54.


Tong W, Zhang J, Lodish HF (2005) Lnk inhibits erythropoiesis and Epo-dependent JAK2 activation and downstream signaling pathways. Blood. 105: 4604–12.


Gueller S, Hehn S, Nowak V, Gery S, Serve H, et al (2011) Adaptor protein Lnk binds to PDGF receptor and inhibits PDGF-dependent signaling. Exp. Hematol. 39: 591-600.


Gueller S, Goodridge HS, Niebuhr B, Xing H, Koren-Michowitz M, et al (2010) Adaptor protein Lnk inhibits c-Fms-mediated macrophage function. J. Leukoc.Biol. 88: 699–706.


Zhernakova A, Elbers CC, Ferwerda B, Romanos J, Trynka G, et al (2011) Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection. Am. J. Hum. Genet. 86: 970–77.


Reddy MP, Wang H, Liu S, Bode B, Reed JC, et al (2011) Association between type 1 diabetes and GWAS SNPs in the southeast US Caucasian population. Genes. Immun. 12: 208 – 12.


Levy D, Ehret GB, Rice K, Verwoert GC, Launer LJ, et al (2009) Genome-wide association study of blood pressure and hypertension. Nat. Genet. 41: 677-87.


Gudbjartsson DF, Bjornsdottir US, Halapi E, Helgadottir A, Sulem P, Jonsdottir GM, et al (2009) Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. Nat. Genet. 41: 342–47.


Hunt KA, Zhernakova A, Turner G, Heap GA, Franke L, et al (2008) Newly identified genetic risk variants for celiac disease related to the immune response. Nat. Genet. 40: 395-402.


Oh ST, Simonds EF, Jones C, Hale MB, Goltsev Y, et al (2010) Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. Blood. 116: 988–92.


Lasho TL, Pardanani A, Tefferi A (2010) LNK mutations in JAK2 mutation-negative erythrocytosis. N. Engl. J. Med. 363: 1189–90.


Gateva V, Sandling JK, Hom G, Taylor KE, Chung SA, et al (2009) A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nat. Genet. 41: 1228–33.


Coenen MJ, Trynka G, Heskamp S, Franke B, van Diemen CC, et al (2009) Common and different genetic background for rheumatoid arthritis and celiac disease. Hum. Mol. Genet.18: 4195-4203.


Alcina A, Vandenbroeck K, Otaegui D, Saiz A, Gonzalez JR, et al (2010) The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis. Genes. Immun. 11: 439-45.


Li Y, He X, Schembri-King J, Jakes S, Hayashi J (2000) Cloning and characterization of human Lnk, an adaptor protein with pleckstrin homology and Src homology 2 domains that can inhibit T cell activation. J. Immunol 164: 5199-206.


Chalmers J, MacMahon S, Mancia G et al (1999) World Health Organization–International Society of Hypertension Guidelines for the Management of Hypertension. J. Hypertens. 17: 151–83.


Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic. Acids. Res. 16:1215.


Newton-Cheh C, Johnson T, Gateva V, Tobin MD, Bochud M, et al (2009) Genome-wide association study identifies eight loci associated with blood pressure. Nat. Genet. 41: 666-76.


Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, et al (2007) Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat. Genet. 39: 857-64.


Ripatti S, Tikkanen E, Orho-Melander M, Havulinna AS, Silander K, et al (2010) A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses. Lancet. 376: 1393-400.


Fox ER, Young JH, Li Y (2011) Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study. Hum. Mol. Genet. 20: 2273–2284.


Johnson JA, Boerwinkle E, Zineh I, Chapman AB, Bailey K, Cooper-DeHoff RM, et al (2009)

Pharmacogenomics of antihypertensive drugs: Rationale and design of the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) study. Am. Heart. J. 157: 442-49. 


IJLSCI EVENTS

ADVERTISEMENT

 
















    INTERNATIONAL JOURNAL OF

    LIFE SCIENCES

    Origin & Evolution

    Print ISSN : 2320-7817 

    Online ISSN:2320-964X

    UGC Approved Journal No. 48951


    EDITORIAL OFFICE

    46, Guruwandan, Jawahar Nagar, 

    VMV Road, Amravati- 444604

    Maharashtra, India.

    Tel  + 91- 9970559438  |   9420775527  

    Email: editor@ijlsci.in | editorijlsci@gmail.com