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Background <p>Multiple sclerosis (MS) is a chronic T-cell-mediated neurological disease, where the immune system mistakenly attacks the protective myelin sheath around axons in the central nervous system, which leads to progressive neurological impairment. It is a multifactorial disease combining genetic, environmental and immunological factors. The aim of the present study is to explore the association between the single nucleotide polymorphisms (SNPs) rs1544410 (<i>Bsm</i>I) of the vitamin D receptor (VDR) gene and rs1520333 of the Interleukin-7 (IL7) gene and genetic susceptibility to MS in the Tunisian population.</p> Results <p>In a case-control study involving 90 MS patients and 80 healthy controls (HC), genotyping of these polymorphisms was performed using Polymerase Chain Reaction (PCR) followed by automatic sequencing. Allelic and genotype frequencies of rs1544410 and rs1520333 were compared between MS patients and HC, and the differences were not significant (<i>p</i> &gt; 0.05). Also, the calculated odds ratios (OR) did not demonstrate any risk or protective genotype or allele (p<sub>(OR)</sub> &gt; 0.05) for the studied SNPs.</p> Conclusions <p>Our findings indicate that rs1544410 of VDR and rs1520333 of IL7 show no significant association with MS susceptibility, suggesting that these variants are unlikely to serve as useful diagnostic markers in the Tunisian population, although this does not exclude a potential involvement of the VDR and IL7 pathways through other mechanisms.</p>

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Unravelling the genetic landscape of multiple sclerosis in the Tunisian population: focus on VDR and IL7 variants

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年7月6日

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  • Faten Alaya,
  • Afef Achouri,
  • Hela Jamoussi,
  • Saloua Fray,
  • Mariem Ben Mahmoud,
  • Nadia Ben Ali,
  • Amel Hannachi Salhi,
  • Ghada Baraket

摘要

Background

Multiple sclerosis (MS) is a chronic T-cell-mediated neurological disease, where the immune system mistakenly attacks the protective myelin sheath around axons in the central nervous system, which leads to progressive neurological impairment. It is a multifactorial disease combining genetic, environmental and immunological factors. The aim of the present study is to explore the association between the single nucleotide polymorphisms (SNPs) rs1544410 (BsmI) of the vitamin D receptor (VDR) gene and rs1520333 of the Interleukin-7 (IL7) gene and genetic susceptibility to MS in the Tunisian population.

Results

In a case-control study involving 90 MS patients and 80 healthy controls (HC), genotyping of these polymorphisms was performed using Polymerase Chain Reaction (PCR) followed by automatic sequencing. Allelic and genotype frequencies of rs1544410 and rs1520333 were compared between MS patients and HC, and the differences were not significant (p > 0.05). Also, the calculated odds ratios (OR) did not demonstrate any risk or protective genotype or allele (p(OR) > 0.05) for the studied SNPs.

Conclusions

Our findings indicate that rs1544410 of VDR and rs1520333 of IL7 show no significant association with MS susceptibility, suggesting that these variants are unlikely to serve as useful diagnostic markers in the Tunisian population, although this does not exclude a potential involvement of the VDR and IL7 pathways through other mechanisms.