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

Autor:	Wu-Chou YH; Department of Medical Research, Chang Gung Memorial Hospital, Taoyuan, Taiwan.; Craniofacial Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.; Graduate Institute of Clinical Medical Science, Chang Gung University, Taoyuan, Taiwan., Chen KP; Craniofacial Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.; Department of Plastic and Reconstructive Surgery, Chang Gung Memorial Hospital, Taoyuan, Taiwan., Lu YC; Department of Medical Research, Chang Gung Memorial Hospital, Taoyuan, Taiwan.; Craniofacial Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan., Lin YT; Department of Medical Research, Chang Gung Memorial Hospital, Taoyuan, Taiwan.; Craniofacial Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan., Chang HF; Department of Medical Research, Chang Gung Memorial Hospital, Taoyuan, Taiwan., Lo LJ; Craniofacial Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.; Department of Plastic and Reconstructive Surgery, Chang Gung Memorial Hospital, Taoyuan, Taiwan.; Graduate Institute of Dental and Craniofacial Science, Chang Gung University, Taoyuan, Taiwan.
Jazyk:	angličtina
Zdroj:	The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association [Cleft Palate Craniofac J] 2020 Jun; Vol. 57 (6), pp. 671-677. Date of Electronic Publication: 2020 Jan 17.
DOI:	10.1177/1055665619899764
Abstrakt:	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.
Databáze:	MEDLINE
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