Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on medication adherence

LIVE: Thursday 27th June 2024, 18:00-19:30 (CEST)
Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
ADVANCED SEARCH
Log in
Top
Journal of Translational Medicine
Published in: Journal of Translational Medicine 1/2015

Open Access 01-12-2015 | Research

Role of SLMAP genetic variants in susceptibility of diabetes and diabetic retinopathy in Qatari population

Authors: Rohit Upadhyay, Amal Robay, Khalid Fakhro, Charbel Abi Khadil, Mahmoud Zirie, Amin Jayyousi, Maha El-Shafei, Szilard Kiss, Donald J D′Amico, Jacqueline Salit, Michelle R Staudt, Sarah L O′Beirne, Xiaoliang Chen, Balwant Tuana, Ronald G Crystal, Hong Ding

Published in: Journal of Translational Medicine | Issue 1/2015

Login to get access

Abstract

Background

Overexpression of SLMAP gene has been associated with diabetes and endothelial dysfunction of macro- and micro-blood vessels. In this study our primary objective is to explore the role of SLMAP gene polymorphisms in the susceptibility of type 2 diabetes (T2DM) with or without diabetic retinopathy (DR) in the Qatari population.

Methods

A total of 342 Qatari subjects (non-diabetic controls and T2DM patients with or without DR) were genotyped for SLMAP gene polymorphisms (rs17058639 C > T; rs1043045 C > T and rs1057719 A > G) using Taqman SNP genotyping assay.

Results

SLMAP rs17058639 C > T polymorphism was associated with the presence of DR among Qataris with T2DM. One-way ANOVA and multiple logistic regression analysis showed SLMAP SNP rs17058639 C > T as an independent risk factor for DR development. SLMAP rs17058639 C > T polymorphism also had a predictive role for the severity of DR. Haplotype Crs17058639Trs1043045Ars1057719 was associated with the increased risk for DR among Qataris with T2DM.

Conclusions

The data suggests the potential role of SLMAP SNPs as a risk factor for the susceptibility of DR among T2DM patients in the Qatari population.
Appendix
Available only for authorised users
Literature
1.
IDF Diabetes Atlas. IDF Diabetes Atlas. 6th ed. Brussels, Belgium: International Diabetes Federation; 2014.
2.
Majeed A, El-Sayed AA, Khoja T, Alshamsan R, Millett C, Rawaf S. Diabetes in the Middle-East and North Africa: an update. Diabetes Res Clin Pract. 2014;103:218–22.PubMedCrossRef
3.
Tuomilehto J, Lindstrom J, Eriksson JG, Valle TT, Hamalainen H, Ilanne-Parikka P, et al. Prevention of type 2 diabetes mellitus by changes in lifestyle among subjects with impaired glucose tolerance. N Engl J Med. 2001;344:1343–50.PubMedCrossRef
4.
Tarr JM, Kaul K, Chopra M, Kohner EM, Chibber R. Pathophysiology of diabetic retinopathy. ISRN Ophthalmol. 2013;2013:343560.PubMedCentralPubMed
5.
Klein R, Knudtson MD, Lee KE, Gangnon R, Klein BE. The Wisconsin Epidemiologic Study of Diabetic Retinopathy XXIII: the twenty-five-year incidence of macular edema in persons with type 1 diabetes. Ophthalmology. 2009;116:497–503.PubMedCentralPubMedCrossRef
6.
Yau JW, Rogers SL, Kawasaki R, Lamoureux EL, Kowalski JW, Bek T, et al. Global prevalence and major risk factors of diabetic retinopathy. Diabetes Care. 2012;35:556–64.PubMedCentralPubMedCrossRef
7.
Yang W, Lu J, Weng J, Jia W, Ji L, Xiao J, et al. Prevalence of diabetes among men and women in China. N Engl J Med. 2010;362:1090–101.PubMedCrossRef
8.
Rema M, Premkumar S, Anitha B, Deepa R, Pradeepa R, Mohan V. Prevalence of diabetic retinopathy in urban India: the Chennai Urban Rural Epidemiology Study (CURES) eye study, I. Invest Ophthalmol Vis Sci. 2005;46:2328–33.PubMedCrossRef
9.
Wong TY, Klein R, Islam FM, Cotch MF, Folsom AR, Klein BE, et al. Diabetic retinopathy in a multi-ethnic cohort in the United States. Am J Ophthalmol. 2006;141:446–55.PubMedCentralPubMedCrossRef
10.
11.
Patel A, MacMahon S, Chalmers J, Neal B, Woodward M, Billot L, et al. Effects of a fixed combination of perindopril and indapamide on macrovascular and microvascular outcomes in patients with type 2 diabetes mellitus (the ADVANCE trial): a randomised controlled trial. Lancet. 2007;370:829–40.PubMedCrossRef
12.
Sun JK, Keenan HA, Cavallerano JD, Asztalos BF, Schaefer EJ, Sell DR, et al. Protection from retinopathy and other complications in patients with type 1 diabetes of extreme duration: the joslin 50-year medalist study. Diabetes Care. 2011;34:968–74.PubMedCentralPubMedCrossRef
13.
Rodriguez-Flores JL, Fakhro K, Hackett NR, Salit J, Fuller J, Agosto-Perez F, et al. Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar. Hum Mutat. 2014;35:105–16.PubMedCentralPubMedCrossRef
14.
Hunter-Zinck H, Musharoff S, Salit J, Al-Ali KA, Chouchane L, Gohar A, et al. Population genetic structure of the people of Qatar. Am J Hum Genet. 2010;87:17–25.PubMedCentralPubMedCrossRef
15.
Omberg L, Salit J, Hackett N, Fuller J, Matthew R, Chouchane L, et al. Inferring genome-wide patterns of admixture in Qataris using fifty-five ancestral populations. BMC Genet. 2012;13:49.PubMedCentralPubMedCrossRef
16.
Sandridge AL, Takeddin J, Al-Kaabi E, Frances Y. Consanguinity in Qatar: knowledge, attitude and practice in a population born between 1946 and 1991. J Biosoc Sci. 2010;42:59–82.PubMedCrossRef
17.
Rebhan M, Chalifa-Caspi V, Prilusky J, Lancet D. GeneCards: integrating information about genes, proteins and diseases. Trends Genet. 1997;13:163.PubMedCrossRef
18.
Ding H, Howarth AG, Pannirselvam M, Anderson TJ, Severson DL, Wiehler WB, et al. Endothelial dysfunction in Type 2 diabetes correlates with deregulated expression of the tail-anchored membrane protein SLMAP. Am J Physiol Heart Circ Physiol. 2005;289:H206–11.PubMedCrossRef
19.
Ishikawa T, Sato A, Marcou CA, Tester DJ, Ackerman MJ, Crotti L, et al. A novel disease gene for Brugada syndrome: sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5. Circ Arrhythm Electrophysiol. 2012;5:1098–107.PubMedCrossRef
20.
Wigle JT, Demchyshyn L, Pratt MA, Staines WA, Salih M, Tuana BS. Molecular cloning, expression, and chromosomal assignment of sarcolemmal-associated proteins. A family of acidic amphipathic alpha-helical proteins associated with the membrane. J Biol Chem. 1997;272:32384–94.PubMedCrossRef
21.
Mitchell BD, Cole SA, Hsueh WC, Comuzzie AG, Blangero J, MacCluer JW, et al. Linkage of serum insulin concentrations to chromosome 3p in Mexican Americans. Diabetes. 2000;49:513–6.PubMedCrossRef
22.
Wielowieyski PA, Sevinc S, Guzzo R, Salih M, Wigle JT, Tuana BS. Alternative splicing, expression, and genomic structure of the 3' region of the gene encoding the sarcolemmal-associated proteins (SLAPs) defines a novel class of coiled-coil tail-anchored membrane proteins. J Biol Chem. 2000;275:38474–81.PubMedCrossRef
23.
Guzzo RM, Sevinc S, Salih M, Tuana BS. A novel isoform of sarcolemmal membrane-associated protein (SLMAP) is a component of the microtubule organizing centre. J Cell Sci. 2004;117:2271–81.PubMedCrossRef
24.
Chen X, Ding H. Increased expression of the tail-anchored membrane protein SLMAP in adipose tissue from type 2 Tally Ho diabetic mice. Exp Diabetes Res. 2011;2011:421982.PubMedCentralPubMed
25.
26.
27.
28.
Yuan HY, Chiou JJ, Tseng WH, Liu CH, Liu CK, Lin YJ, et al. FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization. Nucleic Acids Res. 2006;34:W635–41.PubMedCentralPubMedCrossRef
29.
Xu Z, Taylor JA. SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies. Nucleic Acids Res. 2009;37:W600–5.PubMedCentralPubMedCrossRef
30.
31.
Nader M, Westendorp B, Hawari O, Salih M, Stewart AF, Leenen FH, et al. Tail-anchored membrane protein SLMAP is a novel regulator of cardiac function at the sarcoplasmic reticulum. Am J Physiol Heart Circ Physiol. 2012;302:H1138–45.PubMedCrossRef
32.
Guzzo RM, Salih M, Moore ED, Tuana BS. Molecular properties of cardiac tail-anchored membrane protein SLMAP are consistent with structural role in arrangement of excitation-contraction coupling apparatus. Am J Physiol Heart Circ Physiol. 2005;288:H1810–9.PubMedCrossRef
33.
Haffner SM, Fong D, Stern MP, Pugh JA, Hazuda HP, Patterson JK, et al. Diabetic retinopathy in Mexican Americans and non-Hispanic whites. Diabetes. 1988;37:878–84.PubMedCrossRef
34.
Schwartz SG, Brantley Jr MA, Flynn Jr HW. Genetics and diabetic retinopathy. Curr Diabetes Rev. 2013;9:86–92.PubMedCrossRef
35.
Uhlmann K, Kovacs P, Boettcher Y, Hammes HP, Paschke R. Genetics of diabetic retinopathy. Exp Clin Endocrinol Diabetes. 2006;114:275–94.PubMedCrossRef
36.
Sobrin L, Green T, Sim X, Jensen RA, Tai ES, Tay WT, et al. Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe). Invest Ophthalmol Vis Sci. 2011;52:7593–602.PubMedCentralPubMedCrossRef
37.
38.
39.
Janghorbani M, Amini M, Ghanbari H, Safaiee H. Incidence of and risk factors for diabetic retinopathy in Isfahan, Iran. Ophthalmic Epidemiol. 2003;10:81–95.PubMedCrossRef
Metadata
Title
Role of SLMAP genetic variants in susceptibility of diabetes and diabetic retinopathy in Qatari population
Authors
Rohit Upadhyay
Amal Robay
Khalid Fakhro
Charbel Abi Khadil
Mahmoud Zirie
Amin Jayyousi
Maha El-Shafei
Szilard Kiss
Donald J D′Amico
Jacqueline Salit
Michelle R Staudt
Sarah L O′Beirne
Xiaoliang Chen
Balwant Tuana
Ronald G Crystal
Hong Ding
Publication date
01-12-2015
Publisher
BioMed Central
Published in
Journal of Translational Medicine / Issue 1/2015
Electronic ISSN: 1479-5876
DOI
https://doi.org/10.1186/s12967-015-0411-6

Other articles of this Issue 1/2015

Journal of Translational Medicine 1/2015 Go to the issue

Methodology

Food safety and nutritional quality for the prevention of non communicable diseases: the Nutrient, hazard Analysis and Critical Control Point process (NACCP)

Research

Aurora kinase B inhibition reduces the proliferation of metastatic melanoma cells and enhances the response to chemotherapy

Research

Prognostic relevance of LGALS3BP in human colorectal carcinoma

Review

Genetic testing and genomic analysis: a debate on ethical, social and legal issues in the Arab world with a focus on Qatar

Research

Evaluation of the anaphylactoid potential of Andrographis paniculata extracts using the popliteal lymph node assay and P815 cell degranulation in vitro

Research

Identification of apoptosis-related microRNAs and their target genes in myocardial infarction post-transplantation with skeletal myoblasts
Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

Reserve your place

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.

Prof. Kevin Dolgin
Prof. Florian Limbourg
Prof. Anoop Chauhan
Developed by: Springer Medicine
Obesity Clinical Trial Summary

At a glance: The STEP trials

Read more

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

Highlights from the ACC 2024 Congress

Year in Review: Pediatric cardiology

Pediatric Cardiology Video

Watch Dr. Anne Marie Valente present the last year's highlights in pediatric and congenital heart disease in the official ACC.24 Year in Review session.

Year in Review: Pulmonary vascular disease

Cardiopulmonary Comorbidity Video

The last year's highlights in pulmonary vascular disease are presented by Dr. Jane Leopold in this official video from ACC.24.

Year in Review: Valvular heart disease

Valvular Heart Disease Video

Watch Prof. William Zoghbi present the last year's highlights in valvular heart disease from the official ACC.24 Year in Review session.

Year in Review: Heart failure and cardiomyopathies

Heart Failure Video

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Heart Failure Video

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.

Watch now

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

16-04-2024 Type 2 Diabetes News

Incentivised to exercise

11-04-2024 Lifestyle Modifications News

New intervention for STEMI-related cardiogenic shock

10-04-2024 Myocardial Infarction News

» View more highlights on the ACC 2024 congress hub page

Image Credits