rs12042180 - NDUFA4P1 - VAV3

Magnitude 2.0 · 1 study on file

Reported associations

• Accounting for population structure in genetic studies of cystic fibrosis - Unknown journal (n.d.) · Unknown authors · 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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