New polymorphism associated with GlanzmannThrombastenia

Background and Aim: Glanzmann Thrombasthenia (GT) is the most common and one of the most complex platelet adhesion disorders. Interleukin ۱ families (IL-۱) are the most influencing pro inflammatory cytokines. In the intron ۲ region of IL۱RN gene, a variable number tandem repeat (VNTR) sequence of ۸۶ base pairs exists. Recently, evidence has demonstrated that polymorphism in IL-۱ has a key role in the development and progression of numerous diseases Thus the aim of current study was to find out the possible association between IL۱RN VNTR polymorphism and GT.Methods: In a case-control study we compared the IL۱RN pentaallelic variable number of tandem repeats (VNTR) polymorphisms in ۳۳ GT patients and ۱۰۰ controls randomly sampled from the general population.Results: we found ۵ different types of alleles in patient group:IL۱RN*۱ (۴ repeats, ۴۲۰-bp), IL۱RN*۲ (۲ repeats, ۲۴۰-bp), IL۱RN*۳ (۵ repeats, ۴۹۸-bp), IL۱RN*۴ (۳ repeats, ۳۲۶-bp) and IL۱RN*۵ (۶ repeats, ۵۹۵-bp), The results illustrated that the VNTR polymorphism of IL۱Rn gene has significantly increased the risk Glanzman Trombastenia (OR, ۲.۸ [۹۵% CI, ۱.۷ to ۸.۸]; P = ۰.۰۰۰۰). The results showed that carriage of IL۱RN VNTR allele has positive association with GT susceptibility.Conclusion: Our data suggest that VNTR IL۱RN polymorphism may be associated with the risk of GT in a sample of Iranian population. Larger studies with different ethnicities are needed to find out the impact of IL۱RN VNTR polymorphism on risk of developing GT.

کلیدواژه ها:

Glanzmann ، Thrombasthenia ، ILRN ، VNTR