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

ABSTRACT: 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.

SUBMITTER: Grunwald C

PROVIDER: S-EPMC10716410 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature

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

Grunwald Cezary C Adamska-Patruno Edyta E Wawrusiewicz-Kurylonek Natalia N Czarnowska Agata A Snarska Katarzyna K Dardzińska-Głębocka Agnieszka A Kapica-Topczewska Katarzyna K Mirończuk Anna A Bazylewicz Marcin M Kochanowicz Jan J Krętowski Adam A Kułakowska Alina A Chorąży Monika M

Scientific reports 20231212 1

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 ...[more]

PMID: 38086930

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Project description:BackgroundSingle nucleotide polymorphisms (SNPs) in the interleukin 13 (IL13) gene are associated with vulnerability to allergic diseases, such as asthma and allergic conjunctivitis (AC). Periostin, as an IL13-induced protein, has emerged as a novel biomarker in several allergic diseases. Data among Egyptian patients are still scarce.AimTo find out the association of IL13 rs20541 gene polymorphism and serum levels of periostin with asthma and AC among Egyptian patients.Patients and methodsEighty-one Egyptian allergic patients with asthma, AC, and both asthma and AC (27 each), were enrolled in this case-control study. Twenty-seven age and gender-matched healthy volunteers served as controls. All participants were tested for IL13 rs20541 SNP by real-time polymerase chain reaction, TaqMan method. Serum levels of periostin and IL13 were assessed by ELISA.ResultsCompared to healthy subjects, asthmatic patients had a higher frequency of the homozygous adenine/adenine (AA) genotype at IL13 rs20541 SNP (14.8% vs 3.7%) and a lower frequency of the guanosine/guanosine (GG) genotype (51.9% vs 55.6%), while AC patients had higher GG genotype (70.4% vs 55.6%) with no AA genotype detected, yet no significant difference was noticed (p = 7.053). A significantly higher serum periostin in asthmatic patients compared to controls was found (p = 0.005). Higher levels of serum periostin, although nonsignificant, were recorded in AC patients compared to controls (22.88 ± 10.01ng/mL and 17.51 ± 3.17ng/mL, respectively). Periostin was significantly higher in patients with IL13 AA and GA genotypes compared to those with GG genotype (p = 0.016). A significant positive correlation between serum periostin and serum IL13 among allergic patients was recorded (r = 0.352, p < 0.001).ConclusionAmong Egyptian patients, serum level of periostin is significantly associated with asthma and positively correlates with IL13 level supporting its utility as a diagnostic biomarker. IL13 rs20541 gene polymorphism does not seem to play an obvious role in asthma and AC, which requires further evaluation.

Dataset Information

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

Publications

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

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