Effect of novel IL-8 gene mutation on its protein structure and stability among ovarian cancer patients in Saudi Arabia.

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作者:Haque Absarul, Baig Ghazanfar Ali, Alshawli Abdulelah Saleh, Wali Sait Khalid Hussain, Mohammed Ali Hani S H, Hussain Sait Hesham Khalid, Bibi Fehmida, Pushparaj Peter Natesan, Rasool Mahmood, Naseer Muhammad Imran
Despite advancements in therapeutics, early diagnosis of ovarian cancer (OC) remains a challenge due to its asymptomatic progression and it is often diagnosed at an advanced stage. Interleukin-8 (IL-8), a pro-inflammatory chemokine with angiogenic activity, plays a pivotal role in inflammation and carcinogenesis. Therefore, it is of interest to investigate the association between IL-8 polymorphisms and OC risk. A novel non-synonymous SNP (nsSNP, c.193G>A; p.Glu65Leu) was identified in exon 2 of the IL-8 gene in 5 patients, 3 with stage III and 2 with stage II tumor. Structural analysis suggested that the p.Glu65Leu mutation alters the IL-8 protein conformation showing functional impairment. Thus, data shows that IL-8 c.193 G >A (Glu65Leu) polymorphism may contribute to tumor susceptibility. However, further studies are warranted to understand the role of IL-8 polymorphism in OC.

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