The SNP rs560426 Within ABCA4-ARHGAP29 Locus and the Risk of Nonsyndromic Oral Clefts

Yah Huei Wu-Chou, Kuo Ting Philip Chen, Yi Chieh Lu, Yin Ting Lin, Hsien Fang Chang, Lun Jou Lo

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)

Abstract

Objective: Nonsyndromic oral clefts are common birth defect with complex etiology. In the present study, we attempt to further validate the possible role for ABCA4 and ARHGAP29 in the susceptibility to nonsyndromic oral clefts. Design: We performed allelic transmission disequilibrium test analysis, on 10 eligible single nucleotide polymorphisms (SNPs) and SNP haplotypes using the Family-Based Association Test. Participants: The study sample consisted of 334 case–parent trios of nonsyndromic oral clefts from Taiwanese population, separated into nonsyndromic cleft lip with or without cleft palate (NSCL/P) and nonsyndromic cleft palate only (NSCPO) groups. Results: We found only the SNP rs560426 within the ABCA4 gene showed strong association with NSCPO (P =.03498; Permuted P =.05382). No association between other 9 selected SNPs in ABCA4-ARHGAP29 region and the risk of nonsyndromic oral clefts was found. For the haplotype analyses, we found only haplotype T-C (rs570926 and rs3789431) in ABCA4 block 2 showed significant association with nonsyndromic NSCL/P in these Taiwanese trios. Conclusions: We used a family-based analysis in 334 Taiwanese case–parent trios to validate the possible role for ABCA4 and ARHGAP29 in the susceptibility to nonsyndromic oral clefts. This study provides a new evidence for an association between the intron variant rs560426 within ABCA4 and nonsyndromic cleft palate which may contribute their regulatory role in craniofacial development.

Original languageEnglish
Pages (from-to)671-677
Number of pages7
JournalCleft Palate-Craniofacial Journal
Volume57
Issue number6
DOIs
Publication statusPublished - Jun 2020
Externally publishedYes

Keywords

  • ABCA4 and ARHGAP29 genes
  • case–parent trio
  • chromosome 1p22
  • nonsyndromic oral clefts
  • SNP association study

ASJC Scopus subject areas

  • Oral Surgery
  • Otorhinolaryngology

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