rs11127729 - SUCLG2-DT

Magnitude 2.0 · 1 study on file

Reported associations

• Accounting for population structure in genetic studies of cystic fibrosis - HGG advances (2024) · Kingston H, Stilp AM, Gordon W, Broome J, Gogarten SM, Ling H, Barnard J, Dugan-Perez S, Ellinor PT, Gabriel S, Germer S, Gibbs RA, Gupta N, Rice K, Smith AV, Zody MC, Blackman SM, Cutting G, Knowles MR, Zhou YH, Rosenfeld M, Gibson RL, Bamshad M, Fohner A, Blue EE · PubMed 35647563

  ABSTRACT: Summary CFTR F508del (c.1521_1523delCTT, p.Phe508delPhe) is the most common pathogenic allele underlying cystic fibrosis (CF), and its frequency varies in a geographic cline across Europe. We hypothesized that genetic variation associated with this cline is overrepresented in a large cohort (N > 5,000) of persons with CF who underwent whole-genome sequencing and that this pattern could result in spurious associations between variants correlated with both the F508del genotype and CF-related outcomes. Using principal-component (PC) analyses, we showed that variation in the CFTR region disproportionately contributes to a PC explaining a relatively high proportion of genetic variance. Variation near CFTR was correlated with population structure among persons with CF, and this corre

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