Multiple sclerosis susceptibility may be associated with the coding rs20541 (R130Q) IL-13 gene polymorphism in the Polish population

• Published in: Scientific reports Vol. 13; no. 1; pp. 22083 - 5
• Main Authors: Grunwald, Cezary, Adamska-Patruno, Edyta, Wawrusiewicz-Kurylonek, Natalia, Czarnowska, Agata, Snarska, Katarzyna, Dardzińska-Głębocka, Agnieszka, Kapica-Topczewska, Katarzyna, Mirończuk, Anna, Bazylewicz, Marcin, Kochanowicz, Jan, Krętowski, Adam, Kułakowska, Alina, Chorąży, Monika
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 12.12.2023; Nature Publishing Group; Nature Portfolio
• Subjects: 631/250/38; 692/617/375; Alleles; Autoimmune diseases; Case-Control Studies; Gene polymorphism; Genetic Predisposition to Disease; Genotype; Genotypes; Humanities and Social Sciences; Humans; Interleukin 13; Interleukin-13 - genetics; multidisciplinary; Multiple sclerosis; Multiple Sclerosis - genetics; Poland; Polymorphism; Polymorphism, Single Nucleotide; Science; Science (multidisciplinary); Single-nucleotide polymorphism; Statistical analysis; Poland
• DOI: 10.1038/s41598-023-49615-y
• ISSN: 2045-2322

Some of the multiple autoimmune diseases have been already associated with IL-13 single-nucleotide polymorphisms (SNPs). However, there are only few studies regarding multiple sclerosis (MS) risk and IL-13 rs20541 (R130Q) polymorphism, and their results are conflicting. Therefore, the aim of our study was to investigate the frequency of the IL-13 gene rs20541 (R130Q) polymorphism in MS participants and its association with MS clinical subsets in the Polish population. We conducted a case‒control study including 94 relapsing remitting MS patients and 160 healthy volunteers. We genotyped the rs20541 polymorphism in the IL-13 gene and analysed the genotype frequency, age of MS onset and clinical condition (EDSS values) of the MS participants. Fisher’s exact test was used for statistical analysis, and the log-linear model was applied to test for associations. Allele A, as well as the AA and AG genotypes, was observed to be significantly more common in the MS subjects. The OR (odds ratio) for the A compared to the G allele was 1.71 (1.14–2.56), whereas OR 2.33 (0.86–6.26) and OR 1.92 (1.11–3.30) were obtained for the AA and AG genotypes, respectively. We did not identify any significant associations of the studied IL-13 SNP with the investigated clinical parameters of the MS participants. Our results suggest that the rs20541 polymorphism in the IL-13 gene may play an important role in MS predisposition but not in investigated clinical parameters in MS subjects of the Polish population.