Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Johanna RaidtSarah RiepenhausenPetra PennekampHeike OlbrichIsrael AmiravRodrigo Abensur AthanazioMicha AviramJuan E BalinottiOphir Bar-OnSebastian F N BodeMieke BoonMelissa BorrelliSiobhán B CarrSuzanne CrowleyEleonora DehlinkSandra DiepenhorstPeter DurdikBernd DworniczakNagehan EmiralioğluEla ErdemRossella FonnesuSerena GracciJörg Große-OnnebrinkKarolina GwozdziewiczEric G HaarmanChristine R HansenClaire HoggMathias Geldermann HolgersenEitan KeremRobert W KörnerKarsten KötzPanayiotis KouisMichael R LoebingerNatalie LorentJane S A LucasDebora MajMarcus Alexander MallJune Kehlet MarthinVendula MartinuHenryk MazurekHannah M MitchisonTabea Nöthe-MenchenUgur ÖzçelikMassimo PifferiAndrzej PogorzelskiFelix C C RingshausenJobst F RoehmelSandra Rovira-AmigoNisreen RummanAnne SchlegtendalAmelia ShoemarkSynne Sperstad KennellyBen O StaarSivagurunathan SutharsanSimon ThomasNicola UllmannJulian VargheseSandra von HardenbergWoolf T WalkerMartin WetzkeMichal WittPanayiotis YiallourosAnna ZschockeEwa ZiętkiewiczKim G NielsenHeymut OmranPublished in: The European respiratory journal (2024)
This unprecedented multinational dataset of DNA variants and information on their distribution across countries facilitates interpretation of the genetic epidemiology of PCD and indicates that the genetic variant can predict diagnostic and phenotypic features such as the course of lung function.