Cystic Fibrosis Polymorphic Variants in a Russian Population

Area of Science:

• Genetics and Genomics
• Molecular Biology
• Population Health

Background:

• Cystic fibrosis (CF) is a common autosomal recessive monogenic disease.
• Carrier screening for CFTR gene variants is crucial for reducing disease incidence.
• Understanding allelic frequencies of CFTR variants in specific populations is essential for effective screening programs.

Purpose of the Study:

• To develop a custom diagnostic panel for identifying heterozygous carriers of polymorphic variants in the CFTR gene.
• To determine the allelic frequencies of these CFTR variants within a predominantly ethnic Russian population in a specific Russian region.

Main Methods:

• A diagnostic panel was designed using data from the 2017 Russian CF patient registry.
• The panel was validated on 22 CF patients with known genetic status.
• Genotyping of 642 randomly selected participants from the ESSE-Vologda cohort was performed using real-time PCR and TaqMan Genotyper Software.

Main Results:

• The developed panel simultaneously analyzed 60 CFTR gene variants.
• Twenty-three carriers were identified among 642 participants, with F508del being the most frequent variant (2.02%).
• The overall frequency of heterozygotes for CFTR variants in the studied Russian population was 3.58% (1:28).

Conclusions:

• The high frequency of heterozygous CFTR variant carriers in the Russian population supports the implementation of carrier screening.
• The availability of a high-throughput diagnostic panel facilitates efficient detection of common CFTR variants.
• These findings highlight the public health significance of CF carrier screening in Russia.