Association of ABCA4 Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population.

ABSTRACT:

Background

Non-syndromic cleft lip with/without cleft palate (NSCL/P) is a common congenital condition with a complex aetiology reflecting multiple genetic and environmental factors. Single nucleotide polymorphisms (SNPs) in ABCA4 have been associated with NSCL/P in several studies, although there are some inconsistent results. This study aimed to evaluate whether two SNPs in ABCA4, namely rs4147811 and rs560426, are associated with NSCL/P occurrence in the Polish population.

Methods

The study included 627 participants: 209 paediatric patients with NSCL/P and 418 healthy newborn controls. DNA was isolated from the saliva of NSCL/P patients and from umbilical cord blood in the controls. Genotyping of rs4147811 and rs560426 was performed using quantitative PCR.

SUBMITTER: Zawislak A 

PROVIDER: S-EPMC8583664 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature