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

What was studied

This review looked at GBA1 gene changes in Gaucher disease across Asian populations. It asked how gene changes relate to disease traits. Asian populations remain understudied. The team searched databases from January 2000 to December 2025. 58 studies were included. 419 patients had complete gene and trait data.

What they found

162 distinct genotypes from 15 countries were found. Most were seen in 4 patients or fewer. The L444P variant was the most common, with a pooled proportion of 0.46. This differs from Ashkenazi groups, where N370S is the main variant. N370S clustered in West Asia. It was rare or absent in East Asian countries.

What it means for patients

The authors say Gaucher disease in Asia shows distinct mutation patterns by place. They say this calls for diagnostic plans fitted to each population. They say broad gene sequencing is more appropriate than limited targeted panels.

Why it is not certain yet

Most genotypes were seen in 4 patients or fewer. The abstract does not give the results for predictors of severe disease. A review can only be as good as the studies in it. The abstract does not rate the quality of the studies.

Source

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

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