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<p>Oxidative stress plays a central role in autism spectrum disorder (ASD). The rs1050450 (Pro198Leu) polymorphism of glutathione peroxidase 1 (GPx1), a selenium-dependent antioxidant enzyme, may modulate selenium status and enzymatic activity. This case–control study included 75 children in western Algeria (35 children with ASD, 40 controls). Plasma selenium was quantified by voltammetry, erythrocyte GPx1 activity by spectrophotometry, and rs1050450 genotyping by PCR–RFLP. Children with ASD exhibited significantly lower plasma selenium (49.13 ± 10.75 vs. 68.84 ± 9.48&#xa0;µg/L; <i>p</i> &lt; 0.001) and reduced GPx1 activity (86.73 ± 36.08 vs. 116.71 ± 35.83 U/g Hb; <i>p</i> &lt; 0.05). Remarkably, the TT genotype was found exclusively in ASD children (40.0%; 14/35) with complete absence in controls (0/40), yielding <i>χ</i><sup>2</sup> = 18.01 (<i>p</i> &lt; 0.001). The T allele was more frequent in ASD (47.1% vs. 22.5%; <i>p</i> = 0.003, Fisher <i>p</i> = 0.002). The TT genotype correlated with the lowest GPx1 activity. Selenium-GPx1 correlations varied dramatically by genotype: negative in ASD with CC (<i>r</i> = − 0.555; <i>p</i> &lt; 0.001) and CT (<i>r</i> = − 0.450; <i>p</i> &lt; 0.05), positive in controls with CT (<i>r</i> = 0.852; <i>p</i> &lt; 0.001). Parental consanguinity was more frequent in ASD (28.6% vs. 10.0%; OR = 3.60; <i>p</i> = 0.072). This North African cohort demonstrates hyposelenemia, reduced GPx1 activity, and exclusive TT genotype presence in ASD, suggesting converging genetic–biochemical disruptions of selenium-dependent redox homeostasis. These findings warrant validation in larger cohorts for personalized nutritional interventions.</p>

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GPx1 rs1050450 Polymorphism Modulates Selenium Status and Glutathione Peroxidase 1 Activity in Children with Autism Spectrum Disorder: A Case–Control Study from Western Algeria

  • 期刊论文

  • 发表日期：

    2025年11月4日

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  • Nawel Amraoui,
  • Majda Dali-Sahi,
  • Takwa Salmi,
  • Youssouf Kachekouche,
  • Yahia Harek,
  • Meriem Benguella-Benmansour,
  • Samira Berrahoui,
  • Joanna Dib,
  • Cherifa Benosman,
  • Nouria Dennouni-Medjati

摘要

Oxidative stress plays a central role in autism spectrum disorder (ASD). The rs1050450 (Pro198Leu) polymorphism of glutathione peroxidase 1 (GPx1), a selenium-dependent antioxidant enzyme, may modulate selenium status and enzymatic activity. This case–control study included 75 children in western Algeria (35 children with ASD, 40 controls). Plasma selenium was quantified by voltammetry, erythrocyte GPx1 activity by spectrophotometry, and rs1050450 genotyping by PCR–RFLP. Children with ASD exhibited significantly lower plasma selenium (49.13 ± 10.75 vs. 68.84 ± 9.48 µg/L; p < 0.001) and reduced GPx1 activity (86.73 ± 36.08 vs. 116.71 ± 35.83 U/g Hb; p < 0.05). Remarkably, the TT genotype was found exclusively in ASD children (40.0%; 14/35) with complete absence in controls (0/40), yielding χ2 = 18.01 (p < 0.001). The T allele was more frequent in ASD (47.1% vs. 22.5%; p = 0.003, Fisher p = 0.002). The TT genotype correlated with the lowest GPx1 activity. Selenium-GPx1 correlations varied dramatically by genotype: negative in ASD with CC (r = − 0.555; p < 0.001) and CT (r = − 0.450; p < 0.05), positive in controls with CT (r = 0.852; p < 0.001). Parental consanguinity was more frequent in ASD (28.6% vs. 10.0%; OR = 3.60; p = 0.072). This North African cohort demonstrates hyposelenemia, reduced GPx1 activity, and exclusive TT genotype presence in ASD, suggesting converging genetic–biochemical disruptions of selenium-dependent redox homeostasis. These findings warrant validation in larger cohorts for personalized nutritional interventions.