Biopolym. Cell. 2024; 40(3):203-203.
Chronicle and Information
The GIWU–CF study: exploring genetic modifiers in cystic fibrosis
1, 2Tyshchenko O., 3, 4Sharhorodska Yu., 5Bober L., 3Tyrkus M., 4Shmeliov A., 6Okul T., 7Vashchuk O., 2Matiytsiv N., 4Prokopenko I., 8, 1Makukh H.
  1. Scientific Medical Genetic Center "LeoGENE"
    5, Zihzah Str., Lviv, Ukraine, 79000
  2. Ivan Franko National University of Lviv
    1, Universytetska Str., Lviv, Ukraine, 79000
  3. Institute of Hereditary Pathology, NAMS of Ukraine
    31A, Lysenko Str., Lviv, Ukraine, 79000
  4. University of Surrey
    Stag Hill, University Campus, Guildford, United Kingdom, GU2 7XH
  5. West Ukrainian Specialised Children Medical Center,
    27, Dnisterska Str., Lviv, Ukraine, 79035
  6. Zaporizhia Oblast Children's Hospital
    70, Sobornyi Ave., Zaporizhzhia, Ukraine, 69000
  7. Lviv regional hospital of veterans of wars and repressed named after Yu. Lypa
    31, Volodymyra Ivasiuka Str., Vynnyky, Lviv region, Ukraine, 79495
  8. Lviv regional clinical perinatal center, Regional center of neonatal screening
    6, Dzhordzh Vashynhton Str., Lviv, Ukraine, 79032

Abstract

Aim. Genome–wide association studies (GWAS) effectively identify links between genetic variants and diseases. Cystic fibrosis (CF) results from the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene mutations; however, disease severity varies among patients with the same mutations because of other genetic factors. We launched the GIWU–CF study (Genetic Investigation into Western Ukrainian CF) to explore CF's genetic foundation. Conclusions. This research seeks to advance our understanding of CF genetics by integrating individual genetic profiles, thereby contributing to a more nuanced approach to managing and understanding the disease and its complications.
Keywords: cystic fibrosis (CF), genetic variants, GWAS (Genome–Wide Association Study), mutation, PCR, sequencing, bioinformatics