• Muhammad, Jibran Sualeh
• Azam, Iqbal
• Iqbal, Khalida
• Mehboobali, Naseema
• Islam, Najmul
• Iqbal, Mohammad Perwaiz

Abstract

<p>Objective: The Aim of this study was to investigate the relationship of 3 common polymorphisms in the <i>HFE </i>gene (C282Y, H63D and S65C) with high body iron status in a population of Pakistani subjects with type 2 diabetes mellitus (DM) and to explore if there is any novel mutation in <i>HFE </i>gene in a sample of Pakistani subjects with type 2 DM. <br/><br/>Methods: In a case-control design, 200 healthy controls and 200 consecutive adult subjects with type 2 DM (both gender; age range of 30-70 years) were enrolled with informed consent. Their serum samples were analyzed for body iron status (ratio of concentration of soluble transferrin receptor to ferritin concentration). DNA from blood was screened for <i>HFE </i>gene polymorphisms via polymerase chain reaction, followed by restriction fragment length polymorphism or via Sanger sequencing to identify any novel mutation(s) in <i>HFE </i>gene. <br/><br/>Results: We found that there was lack of any association between <i>HFE </i>polymorphism and body iron status in Pakistani subjects with type 2 DM and healthy controls. H63D was the most common polymorphism found in this population. Single base substitution of G nucleotide instead of C at the codon position 187 in the <i>HFE </i>gene exon 2 was discovered in one subject with DM. There was also a lack of association between D allele (variant allele of H63D) and type 2 DM. A significant relationship was found between CG genotype and abnormal albuminuria in subjects with type 2 DM (p = 0.036). <br/><br/>Conclusion: In conclusion, HFE gene polymorphism is not associated either with high body iron status or type 2 DM in a hospital based Pakistani population and variant allele of H63D polymorphism appears to be associated with diabetic nephropathy.</p>

Topics

• impedance spectroscopy
• iron