A new approach to chromosome-wide analysis of X-linked markers identifies new associations in Asian and European case-parent triads of orofacial clefts.

Øivind SkareHåkon K GjessingMiriam GjerdevikØystein A HaalandJulia RomanowskaRolv T LieAstanand Jugessur

Published in: PloS one (2017)

We found new support for the involvement of X-linked variants in isolated clefts. The associations were specific for ethnicity, sex and model parameterization, highlighting the need for flexible tools that are capable of detecting and estimating such effects. Further efforts are needed to verify and elucidate the potential roles of EFNB1/PJA1, KLHL4, TBX22, CPXCR1 and BCOR in isolated clefts.

Keyphrases

copy number
genome wide
gene expression
human health
dna methylation
risk assessment