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<p>Alopecia areata (AA) is a common autoimmune disorder resulting in hair loss. While its etiology remains multifactorial and incompletely understood, accumulating evidence points to a strong genetic component, with emerging interest in the regulatory roles of microRNAs (miRNAs).&#xa0;This study investigates the association between the rs4541843 G &gt; A variant and AA susceptibility and severity, and evaluates its impact on the expression of hsa-miR-182-5p.&#xa0;A total of 94 AA patients and 97 age- and sex-matched healthy controls were enrolled in a case-control study. Genotyping of rs4541843 was performed using PCR-RFLP, and plasma levels of hsa-miR-182-5p were quantified by qRT-PCR. AA severity was assessed using the SALT score.&#xa0;The A/A genotype and A allele were significantly more frequent in AA patients than controls (<i>p</i> = 0.001 and <i>p</i> = 0.002, respectively). A/A carriers exhibited markedly higher hsa-miR-182-5p levels than A/G and G/G genotypes (<i>p</i> = 0.001). Expression levels also correlated positively with disease severity (<i>p</i> = 0.005). ROC analysis indicated strong diagnostic potential for hsa-miR-182-5p (AUC = 0.842; 95% CI 0.77–0.911), with 88.5% sensitivity and 89.6% specificity at a cutoff of 2.9-fold change.&#xa0;The rs4541843 G &gt; A variant is significantly associated with increased risk and severity of AA and is linked to elevated expression of hsa-miR-182-5p. Both may serve as potential molecular markers for AA diagnosis and severity assessment. Further functional studies are needed to clarify the role of miR-182-5p in AA pathogenesis.</p>

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rs4541843 G > A variant near miR-182 is associated with susceptibility, severity, and increased hsa-miR-182-5p expression in alopecia areata

  • 期刊论文

  • 发表日期：

    2026年6月25日

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  • Ahmed Ibrahim AbdElneam,
  • Mohammed Saleh Al-Dhubaibi,
  • Salem Saleh Bahaj,
  • Ghada Farouk Mohammed,
  • Ahmed Mohammed Al-Dhubaibi,
  • Lina Mohammed Atef

摘要

Alopecia areata (AA) is a common autoimmune disorder resulting in hair loss. While its etiology remains multifactorial and incompletely understood, accumulating evidence points to a strong genetic component, with emerging interest in the regulatory roles of microRNAs (miRNAs). This study investigates the association between the rs4541843 G > A variant and AA susceptibility and severity, and evaluates its impact on the expression of hsa-miR-182-5p. A total of 94 AA patients and 97 age- and sex-matched healthy controls were enrolled in a case-control study. Genotyping of rs4541843 was performed using PCR-RFLP, and plasma levels of hsa-miR-182-5p were quantified by qRT-PCR. AA severity was assessed using the SALT score. The A/A genotype and A allele were significantly more frequent in AA patients than controls (p = 0.001 and p = 0.002, respectively). A/A carriers exhibited markedly higher hsa-miR-182-5p levels than A/G and G/G genotypes (p = 0.001). Expression levels also correlated positively with disease severity (p = 0.005). ROC analysis indicated strong diagnostic potential for hsa-miR-182-5p (AUC = 0.842; 95% CI 0.77–0.911), with 88.5% sensitivity and 89.6% specificity at a cutoff of 2.9-fold change. The rs4541843 G > A variant is significantly associated with increased risk and severity of AA and is linked to elevated expression of hsa-miR-182-5p. Both may serve as potential molecular markers for AA diagnosis and severity assessment. Further functional studies are needed to clarify the role of miR-182-5p in AA pathogenesis.