Téma: Original Works

Tcf7l2 gene polymorphism is associated with development of type 2 diabetes mellitus in the slovakian population

Martin Javorský, Martina Dobríková, Viera Habalová, Miriam Kozárová, Lucia Klimčáková, Jana Halušková, Jozef Židzik, Daniela Gašperíková, Iwar Klimeš, Ján Šalagovič, Ivan Tkáč

Background/Aim: Polymorphism of the transcription factor gene TCF7L2 rs7903146 C/T has shown so far the strongest and best replicated association with type 2 diabetes (DM2), T-allele carrying 40 % increased risk. Although widely replicated, rs7903146 has shown marked variation in both frequency of the minor T-allele as well as the strength of association with DM2 among populations. Aim of this study was to replicate the association between TCF7L2 rs7903146 C/T and DM2 in the Slovakian population and to estimate frequency of the risk allele T. Methods: 538 DM2 patients and 361 subjects with normal glucose tolerance were genotyped for TCF7L2 rs7903146 C/T by assymetric PCR with unlabeled dyes and melting curve analysis. Anthropometric and biochemical examinations were performed by routine methods. Results: Minor, risk allele frequency (T) was higher among DM2 patients compared with controls (30 % vs. 28 %), which resulted in significant 30 % increased risk per T allele in the log-additive genetic model (OR 1,29; 95 % CI 1,00 - 1,66; p = 0,048). Genotype T/T was more prevalent among DM2 (11 %) than in controls (6 %) (59/538 vs. 21/361; p = 0,015). Adjusted for age, sex and BMI, genotype T/T was associated with increased risk of DM2 (OR 2,57; 95 %CI 1,40 - 4,73; p = 0,002) compared with C-allele carriers (C/T + C/C). Conclusion: We replicated association of TCF7L2 rs7903146 C/T with increased risk of type 2 diabetes in the Slovakian population. Both minor (risk) allele frequency (T) and the strength of association with DM2 is comparable with the other Caucasian populations.
Keywords: genetic association study, single nucleotide polymorphism, TCF7L2, type 2 diabetes, Slovakian population

Ročník 2009  Témy časopisu Internal medicine 10 / 2009

CHAIRMAN OF THE EDITORIAL BOARD
prof. MUDr. Ivica Lazúrová, CSc. FRCP

REPRESENTATIVE OF CHAIRMAN
prof. MUDr. Juraj Payer, CSc., FRCP

MEMBERS OF THE EDITORIAL BOARD
doc. MUDr. Viera Fábryová, CSc.
MUDr. Viera Fedelešová, CSc.
prof. MUDr Martin Haluzík, CSc.
prof. MUDr. Štefan Hrušovský, CSc. Dr.SVS.
prof. MUDr. Rudolf Hyrdel, CSc.
doc. MUDr. Oľga Jurkovičová, CSc.
doc. MUDr. Zdenko Killinger, PhD.
doc. MUDr. Soňa Kiňová, PhD.
prof. MUDr. Peter Mitro, PhD.
doc. MUDr. Viliam Mojto, CSc., MHA
prof. MUDr. Karel Pacák, DrSc.
prof. MUDr. Juraj Payer, CSc., FRCP
doc. MUDr. Ján Podoba, CSc.
prof. MUDr. Igor Riečanský, DrSc.
doc. MUDr. Ján Staško, PhD.
doc. MUDr. Mária Szántová, PhD.
prof. MUDr. Ivan Tkáč, PhD.

EDITOR-IN-CHIEF
Eva Stachová
e-mail: stachova@amedi.sk 

GRAPHIC LAYOUT AND TYPESETTING
Lucia Vecseiová
e-mail: dtp@amedi.sk 

MARKETING MANAGER
Ing. Dana Lakotová
mobil: 0903 224 625
e-mail: marketing@amedi.sk

ECONOMY AND SUBSCRIPTIONS
Ing. Mária Štecková
telefón: 02/55 64 72 48
mobil: 0911 117 949
e-mail: ekonom@amedi.sk

PROFESSIONAL PROOFREADING
doc. MUDr. Mária Szántová, PhD.

LANGUAGE PROOFREADING
Mgr. Eva Doktorová

PROOFREADING OF ENGLISH TEXTS
Mgr. Jana Bábelová

SECTIONS

OVERVIEW PAPERS
The latest knowledge on disease and disease groups aetiology, pathogenesis, diagnoses and therapy. Maximum size is 7 pages (font size 12, line spacing 1.5) with maximum six pictures (graphs). In case of more extensive theme it is possible to divide the paper to several parts after agreement with editorial office. Write the article with emphasis on its practical usage for out-patient internists and general practitionrs.

CASE STUDY
Maximum extent is 7 pages. Structuring: summary, introduction, case study, discussion, conclusion, bibliography.

DIAGNOSTIC AND THERAPEUTICAL ALGORITHMS
Diagnosis and therapy processed into tables and schemes, with minimum text, with emphasis on conciseness and clarity.

MISCELLANEOUS
Reaction to overview articles, news in the field of diagnostics, therapy, trial results (maximum 3 pages), reports from professional events, abstracts from scientific work published abroad, not older than 1 year. Maximum extend is 1 page. Write the title of the paper in Slovak/Czech, authors, workplace, then title of the paper in English with full citation.

APPENDIX - GENERAL MEDICINE
Intersectional theme elaborated complexly, well-arranged, clear (extent up to 12 pages).


MANUSCRIPT ELABORATION

Write the paper on computer in any common text editor.
write full length of lines (do not use ENTER at the end of a line)
- do not arrange text into columns
- do not do page make-up, put tables at the end of the paper
- distinguish precisely numbers 1, 0 and letters l, O
- use always parentheses ( )
- explain abbreviations always when first used


MANUSCRIPT REQUIREMENTS

1. An accurate paper title, names and surnames of all authors including titles, authors` workplace. The first author address including the phone number, fax and e-mail address.

2. Summary - concise content summary in the extent maximum 10 lines (only at overview papers, case studies and Appendices - General Medicine). Write in 1st or 3rd person singular or plural (unify according the type of an article).

3. Key words - in the extent of 3-6 (only for overview papers and Appendices - General Medicine). 4. English translation: paper title, summary, key words (only at overview papers, and Appendices - General Medicine)

5. Text
If you insert pictures into a document, send also their original files in "jpg" format, create graphs in Excel and send also their original files. If you send photo documentation via post office, please, send just high-class originals. Mark each original by a number, under which it is mentioned in the text. Write in 1st or 3rd person singular or plural (unify according the type of an article).

6. Bibliography
Citations are numbered chronologically in bold, references in the text are stated by the number of citations in parentheses. Use maximum 20 citations.

Examples of citations:
1. Shaheen NJ, Crosby NA, Bozymski EM, et al. Is there publication bias in the reporting cancer risk in Barrett ́ esophagus? Gastroenterology 2000; 119: 333-338.
2. Stenestrand U, Wallentin L. Swedish Register of Cardiac Intensive Care (RIKS-HIA): Early statin treatment following acute myocardial infarction and 1-year survival. JAMA 2001; 285(4): 430-436.
3. LIPID Study Group. Prevention of cardiovascular events and death with pravastatin in patients with coronary heart disease and a broad range of initial cholesterol levels. N Engl J Med 1998; 339: 1349-1357.
4. Jurkovičová O, Spitzerová H, Cagáň S. Komorové arytmie a náhla srdcová smrť pri akútnom infarkte myokardu. Bratisl Lek Listy 1997; 98: 379-389.
5. Osborne BE. The electrocardiogram of the rat. In: Budden R, Detweiler DK, Zbinden G. The rat electrocardiogram in pharmacology and toxicology. Oxford: Pergamon Press 1981: 15-27.

Do not use dots after first names in citations. Do not use colon but dot after names of authors. Use semi-colon after the year of publishing, colon is before pages. If an author is one, two or three - it is necessary to state all. If there are more than three authors it is necessary to write first three and "et all", in Slovak and Czech citations "a spol.".

Due to publishing of autodidactic tests it is necessary to add 4 questions to your article and 4 answers with marking of one correct answer, e.g.: Which of following factors is not related to rosacea?
a. genetic predisposition
b. Scandinavian origin
c. propionibacterium acnes
d. endothelial growth factor


The editorial board reserves the right to make small stylistic changes in the paper. If it is necessary to shorten the paper, the consent of the author will be required. All articles are double reviewed.

All published papers are paid.

Due to practical focus of the journal we would like to ask you to write the paper comprehensively, with emphasis on practical use of provided information in out-
patient internists and general practitioners.


Send contributions in the e-mail to the address: stachova@amedi.sk