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Updated: Mar 12, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Exploring the Association of Interleukin 13 Polymorphism (rs20541) and Serum Lipocalin 2 with Risk and Disability in
Fatma Z Kamel1, Alia A El Shahawy1, Eman Ahmed Abdelaziz2
1Department of Medical Microbiology and Immunology, Faculty of Medicine, Zagazig University, Zagazig, Sharkia Governorate, Egypt.
Background:
Serum lipocalin 2 (LCN2) and human interleukin 13 (IL-13) polymorphism are important biomarkers in neurodegeneration, neuroinflammation and the development of multiple sclerosis (MS). This study aimed to evaluate IL-13 polymorphism and serum LCN2 in MS patients and assess their role as predictors of risk and disability in MS.
Methodology:
This case-control study included 48 patients and 48 controls. Blood samples were obtained to measure LCN2 and to find the IL-13 (rs20541) gene polymorphism by restriction fragment length polymorphism. Individuals with the GG genotype, which is wild normal, produced two fluorescent bands at 210 and 26 bp. Three fluorescent bands were seen at 178, 32 and 26 bp in individuals with the homozygous mutant type AA genotype. Individuals with heterozygous mutant type GA gave four fluorescent bands at 210 bp, 178 bp, 32 bp and 26 bp.
Results:
The IL-13 (rs20541) polymorphism revealed a statistically significant difference between the MS group and the healthy control group. The AG genotype raises the risk of MS by 9 times, whereas the risk of MS is approximately 3.58 times higher with the A allele. There was no statistically significant difference between the severity of disability in MS regarding IL-13 (rs20541) polymorphism. Also, there was a significant direct correlation between LCN2 and Expanded Disability Status Scale. The best cutoff values of LCN2 for diagnosis and detecting disability in MS were ≥5.4 ng/mL, with an area under the curve is 0.90 with sensitivity 85.7% and specificity 82.4%.
Conclusion:
The research makes a substantial contribution to the literature on the perceived significance of value of IL-13 polymorphism to the risk of MS, while LCN2 is linked to both risk and disability of MS.

