Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort

Area of Science:

• Genetics
• Neonatology
• Population Health

Background:

• Rare mutations in surfactant-associated genes are linked to neonatal respiratory distress syndrome.
• The prevalence of these mutations in the Chinese population remains uncharacterized.

Purpose of the Study:

• To investigate the frequency of mutations in surfactant protein-B (SFTPB), surfactant protein-C (SFTPC), and ATP-binding cassette member A3 (ABCA3) genes in Chinese neonates.
• To compare the frequencies of common and rare variants in Han and Zhuang ethnic groups.

Main Methods:

• Blood spots from 756 neonates (443 Han, 313 Zhuang) in Guangxi, China were analyzed.
• Exome resequencing of SFTPB, SFTPC, and ABCA3 genes was performed.
• Frequencies of common and rare variants were compared between ethnic groups.

Main Results:

• Minor differences in common variant frequencies were observed between Han and Zhuang cohorts.
• No rare mutations were found in SFTPB or SFTPC.
• Three ABCA3 mutations (MAF=0.003) were identified in Han, and seven (MAF=0.011) in Zhuang neonates.
• The combined carrier rate for rare ABCA3 mutations was 1.3%, significantly lower than in the United States.

Conclusions:

• The population-based frequency of ABCA3 mutations in South China newborns is significantly lower than in the US.
• The specific contribution of these rare ABCA3 mutations to the disease burden in South China requires further investigation.