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Mutation analysis of the GLA gene in Chinese patients with intracerebral hemorrhage
Lu Tang1, Qiong Yang1, Xiaolu Liu1
1Department of Neurology, Peking University Third Hospital, Beijing, China; Beijing Key Laboratory of Biomarker and Translational Research in Neurodegenerative Disorders, Beijing, China.
Insights
Fabry disease (FD) mutations are rarely a cause of intracerebral hemorrhage (ICH) in Chinese patients. Genetic analysis found only one FD-causing GLA mutation in 373 ICH cases, highlighting its uncommon role.
Area of Science:
- Genetics
- Neurology
- Rare Diseases
Background:
- Fabry disease (FD) is linked to cryptogenic stroke and cerebral small vessel disease.
- The role of GLA mutations in intracerebral hemorrhage (ICH) is not well understood.
Purpose of the Study:
- To investigate the frequency and significance of GLA mutations in Chinese patients with ICH.
- To determine if GLA mutations are a common genetic cause of ICH in this population.
Main Methods:
- Genetic analysis of GLA sequences in 373 Chinese ICH patients and 563 controls.
- Comparison with East Asian data from public databases.
- Identification and characterization of causative mutations and functional variants.
Main Results:
- One previously reported GLA mutation (p.Ala15Val) causing Fabry disease was identified in a single female patient with nonlobar ICH (0.27% of cases).
- A functional variant (rs2071225) showed no association with ICH, despite a trend in male patients with lobar ICH.
- The identified GLA mutation was responsible for a very small fraction of the studied ICH cohort.
Conclusions:
- GLA mutations are an uncommon genetic cause of intracerebral hemorrhage in the Chinese population.
- Fabry disease is not a frequent underlying condition in Chinese patients presenting with ICH.
- Further research may be needed to explore other genetic factors contributing to ICH.
Abstract:
Fabry disease (FD) is an important underlying condition in young cryptogenic stroke patients and has also been implicated in cerebral small vessel disease. However, the contributions of causative GLA mutations in patients with intracerebral hemorrhage (ICH) remain unclear. In this study, GLA sequences were analyzed in a Chinese ICH cohort comprising 373 patients with computed tomography-confirmed ICH and 563 in-house controls and East Asians from public databases. Only one previously reported mutation, p. Ala15Val, responsible for Fabry disease was identified in a female patient with nonlobar ICH. Therefore, this definitive GLA mutation accounted for 0.27% (1/373) of Chinese patients with ICH. Another functional variant, rs2071225 (c.-10C>T), was present at minor allele frequency (MAF) of 9.1%, indicating no association with ICH, despite a trend of an association for male patients with lobar ICH. In conclusion, our results indicate that the GLA mutation is an uncommon genetic etiology of ICH in China.
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