@article{97794,
  keywords = {Genetics (clinical), Drug Discovery, Genetics, Molecular Biology, Molecular Medicine},
  author = {Saleem S and Zia M and Siddiqui F and Ghouri M and Kulsoom U and Kawal S and Fatima S and Zehra S},
  title = {Hyperfunction variant rs708035 of interleukin 1 receptor‐associated kinases 2 gene involved in the predisposition of leprosy infection},
  abstract = {<p id="jgm3473-sec-0001-title"><strong>Background:&nbsp;</strong>Mycobacterium leprae (slow-growing bacteria) is the etiological agent for Leprosy infection, which is a chronic granulomatous disease. Symptoms initiate with the loss of sensation in the affected areas which can lead to severe injuries, cuts, and burns. The IRAK2 (Interleukin-1 receptor-associated kinases 2) is reported to function in the regulation of the NFκB pathway. The frequency of IRAK2 polymorphism (rs708035) was unknown in the Pakistani population. Therefore, the study was designed to identify the role of rs708035 SNP (single nucleotide polymorphism) with susceptibility to Leprosy.</p>

<p><strong>Methodology:&nbsp;</strong>The case-control study was designed, participants were selected by Ridley-Jopling Classification. Blood samples from healthy individuals and patients were collected after the ethical approval. Genomic DNA was extracted for the amplification of selected polymorphism by T-ARMS PCR (Tetra-primer Amplification Refractory Mutation System). The desired products were observed via agarose gel (2.5 %) electrophoresis followed by data analyses using bioinformatics tools (SNP Stats and SHEsis) and statistical tests (Odds ratio and Chi square).</p>

<p id="jgm3473-sec-0002-title"><strong>Results:&nbsp;</strong>The study revealed that mutant genotype (TT) was found to be frequent among cases (22.80%) in comparison to the controls (1.66%). The SNP rs708035 was significantly associated with the progression of leprosy (χ<sup>2</sup>= 17.62, p&lt;0.0001). The targeted SNP significantly increases the risk of leprosy 2.3 times (OR= 2.3119, 95%CI= 1.2729 ~ 4.1989, p&lt;0.01). The genetic model also confirms the significant association of the A/T genotype with leprosy in the over dominant model (OR= 2.83, 95%CI=1.16~ 6.89, p&lt;0.001).</p>

<p id="jgm3473-sec-0003-title"><strong>Conclusions:&nbsp;</strong>The study revealed a significant association of the targeted SNP with leprosy and provide baseline data regarding the association of rs708035. The current research could be utilized for the preparation of biomarkers by considering a larger sample size.</p>
},
  year = {2023},
  journal = {The Journal of Gene Medicine},
  publisher = {Wiley},
  issn = {1099-498X, 1521-2254},
  doi = {10.1002/jgm.3473},
  language = {Eng},
}