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Background <p>Gaucher disease exhibits substantial genetic heterogeneity across populations. Asian populations remain understudied despite representing diverse genetic backgrounds. The systematic review was conducted to identify GBA1 mutations and genotype-phenotype correlations in Asian populations.</p> Methods <p>Following PRISMA guidelines, three databases were searched (January 2000 to December 2025) for studies reporting GBA1 mutations in Asian populations (World Bank classification). From 58 included studies, 419 patients were analyzed with complete genotype-phenotype data. Meta-analyses with Freeman-Tukey transformation estimated pooled proportions of GBA1 variants among reported Gaucher disease cases. Genotype-phenotype associations were assessed using Fisher’s exact or chi-square tests. Logistic regression identified predictors of severe phenotype.</p> Results <p>162 distinct genotypes across 15 countries were identified, with 94% represented by ≤ 4 patients. The GBA1 variant L444P was the most prevalent (pooled proportion: 0.46), contrasting with Ashkenazi populations where the N370S variant predominates. N370S clustered in West Asia (Iraq 58%, Turkey 30%) but was present at very low frequencies or absent in East Asian countries.</p> Conclusion <p>Gaucher disease in the Asian population exhibits distinct mutation spectra and geographic patterns requiring population-specific diagnostic strategies. Due to high genetic heterogeneity, broad sequencing approaches are more appropriate than limited targeted panels.</p>

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Genotype–phenotype correlations and mutation spectrum of GBA1 in Gaucher disease across Asian populations: a systematic review

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年5月4日

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  • Amina Konarbayeva,
  • Sabina Atavliyeva,
  • Dana Auganova,
  • Salima Baduanova,
  • Pavel Tarlykov

摘要

Background

Gaucher disease exhibits substantial genetic heterogeneity across populations. Asian populations remain understudied despite representing diverse genetic backgrounds. The systematic review was conducted to identify GBA1 mutations and genotype-phenotype correlations in Asian populations.

Methods

Following PRISMA guidelines, three databases were searched (January 2000 to December 2025) for studies reporting GBA1 mutations in Asian populations (World Bank classification). From 58 included studies, 419 patients were analyzed with complete genotype-phenotype data. Meta-analyses with Freeman-Tukey transformation estimated pooled proportions of GBA1 variants among reported Gaucher disease cases. Genotype-phenotype associations were assessed using Fisher’s exact or chi-square tests. Logistic regression identified predictors of severe phenotype.

Results

162 distinct genotypes across 15 countries were identified, with 94% represented by ≤ 4 patients. The GBA1 variant L444P was the most prevalent (pooled proportion: 0.46), contrasting with Ashkenazi populations where the N370S variant predominates. N370S clustered in West Asia (Iraq 58%, Turkey 30%) but was present at very low frequencies or absent in East Asian countries.

Conclusion

Gaucher disease in the Asian population exhibits distinct mutation spectra and geographic patterns requiring population-specific diagnostic strategies. Due to high genetic heterogeneity, broad sequencing approaches are more appropriate than limited targeted panels.