Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility.

Miriam Cerván-MartínLara Bossini-CastilloAndrea Guzmán-JiménezRocío Rivera-EgeaNicolás GarridoSaturnino LujanGema RomeuSamuel Santos-Ribeironull nullnull nullJosé Antonio CastillaMaría Del Carmen GonzalvoAna ClaveroVicente MaldonadoFrancisco Javier VicenteMiguel BurgosRafael JiménezSara González-MuñozJosvany Sánchez-CurbeloOlga López-RodrigoIris Pereira-CaetanoPatrícia Isabel MarquesFilipa CarvalhoAlberto BarrosLluís BassasSusana SeixasJoão GonçalvesSara LarribaAlexandra Manuel LopesRogelio Jesús Palomino-MoralesFrancisco David Carmona

Published in: Andrology (2022)

Specific allelic combinations of KATNAL1 genetic polymorphisms may confer a risk of developing severe male infertility phenotypes by favouring the overrepresentation of a short non-functional transcript isoform in the testis.

Keyphrases

early onset
polycystic ovary syndrome
drug induced
rna seq
type diabetes
metabolic syndrome
insulin resistance