Logo Medical Science Monitor

Call: +1.631.470.9640
Mon - Fri 10:00 am - 02:00 pm EST

Contact Us

Logo Medical Science Monitor Logo Medical Science Monitor Logo Medical Science Monitor

25 February 2003

A search for association between hereditary hemochromatosis HFE gene mutations and type 2 diabetes mellitus in a Polish population.

Maciej T. Małecki, Tomasz Klupa, Małgorzata Waluś, Wojciech Czogała, Paul Greenlaw, Jacek Sieradzki

Med Sci Monit 2003; 9(2): BR91-95 :: ID: 4755


BACKGROUND: Hereditary hemochromatosis (HH) is characterized by excess iron deposition. Two mutations in the HFE gene are associated with HH. Heterozygous carriers of HFE mutations are at higher risk of developing type 2 diabetes mellitus (T2DM). The aims of our project were to identify the frequency of C282Y and H63D mutations in a population from the Małopolska region of south-eastern Poland, and to search for an association of HFE mutations with T2DM. MATERIAL/METHODS: We included 391 individuals in this study: 222 T2DM patients and 169 controls. Genotypes were determined by electrophoresis of the DNA digestion products from SnaBI and DpnII, respectively. Differences in distributions between the groups were then analyzed by the chi-squared test. RESULTS: The frequency of wild/C282Y alleles was 98.2%/1.8% in T2DM patients and 96.7%/3.2% in controls (p=0.19). The frequency of wild/H63D alleles was 85.6%/14.4% and 88.8%/11.2% (p= 0.19), respectively. The distribution of genotypes was not statistically different. However, in stratified analyses based on age of T2DM onset and gender, we observed a higher prevalence of wild/H63D and H63D/H63D genotypes among T2DM patients diagnosed at > 49 years of age, the mean age for the entire group (p=0.018), and among male T2DM individuals (p=0.005) than in controls. CONCLUSIONS: The frequency of HH-associated mutations in this population from south-eastern Poland is similar to other Caucasians. We found no evidence for the association of the C282Y mutation with T2DM. The results do suggest, however, that the H63D mutation may play a role in the pathogenesis of late onset T2DM and in males in this Polish population.

Keywords: Case-Control Studies, Diabetes Mellitus, Type 2 - genetics, Gene Frequency, Genotype, Hemochromatosis - genetics, Histocompatibility Antigens Class I - genetics, Membrane Proteins - genetics, Point Mutation, Poland

Add Comment 0 Comments

609 0


01 June 2023 : Editorial  

Editorial: Infectious Disease Surveillance Using Artificial Intelligence (AI) and its Role in Epidemic and Pandemic Preparedness

Dinah V. Parums
Science Editor, Medical Science Monitor, International Scientific Information, Inc., Melville, NY, USA

DOI: 10.12659/MSM.941209

Med Sci Monit 2023; 29:e941209


In Press

05 Jun 2023 : Laboratory Research  

Comparison of Composite Resin (Duo-Shade) Shade Guide with Vita Ceramic Shades Before and After Chemical an...

Med Sci Monit In Press; DOI: 10.12659/MSM.940949  

01 Jun 2023 : Clinical Research  

Root Canal Numbers and Configurations in 1080 Permanent Canine Teeth in 270 Saudi Subjects Using Cone-Beam ...

Med Sci Monit In Press; DOI: 10.12659/MSM.940472  

01 Jun 2023 : Clinical Research  

Internal Orifice Alloy Closure: A New Procedure for Treatment of Perianal Fistulizing Crohn’s Disease

Med Sci Monit In Press; DOI: 10.12659/MSM.940873  

01 Jun 2023 : Clinical Research  

Effectiveness of Needle Aspiration versus Surgical Excision for Symptomatic Synovial Cysts of the Hip: A Si...

Med Sci Monit In Press; DOI: 10.12659/MSM.940187  

Most Viewed Current Articles

13 Nov 2021 : Clinical Research  

Acceptance of COVID-19 Vaccination and Its Associated Factors Among Cancer Patients Attending the Oncology ...

DOI :10.12659/MSM.932788

Med Sci Monit 2021; 27:e932788


30 Dec 2021 : Clinical Research  

Retrospective Study of Outcomes and Hospitalization Rates of Patients in Italy with a Confirmed Diagnosis o...

DOI :10.12659/MSM.935379

Med Sci Monit 2021; 27:e935379

08 Mar 2022 : Review article  

A Review of the Potential Roles of Antioxidant and Anti-Inflammatory Pharmacological Approaches for the Man...

DOI :10.12659/MSM.936292

Med Sci Monit 2022; 28:e936292

01 Jan 2022 : Editorial  

Editorial: Current Status of Oral Antiviral Drug Treatments for SARS-CoV-2 Infection in Non-Hospitalized Pa...

DOI :10.12659/MSM.935952

Med Sci Monit 2022; 28:e935952

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750