X-linked genes and risk of orofacial clefts: evidence from two population-based studies in Scandinavia.

ABSTRACT:

Background

Orofacial clefts are common birth defects of complex etiology, with an excess of males among babies with cleft lip and palate, and an excess of females among those with cleft palate only. Although genes on the X chromosome have been implicated in clefting, there has been no association analysis of X-linked markers.

Methodology/principal findings

We added new functionalities in the HAPLIN statistical software to enable association analysis of X-linked markers and an exploration of various causal scenarios relevant to orofacial clefts. Genotypes for 48 SNPs in 18 candidate genes on the X chromosome were analyzed in two population-based samples from Scandinavia (562 Norwegian and 235 Danish case-parent triads). For haplotype analysis, we used a sliding-window approac

SUBMITTER: Jugessur A 

PROVIDER: S-EPMC3378529 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature