OBJECTIVE: To assess the association between nonsyndromic (NS) cleft lip with or without cleft palate (CL(P)) and single-nucleotide polymorphisms (SNPs) within the CRISPLD2 gene (cysteine-rich secretory protein LCCL domain containing 2). DESIGN: Four SNPs within the CRISPLD2 gene domain (rs1546124, rs8061351, rs2326398, rs4783099) were genotyped to test for association via family-based association methods. PARTICIPANTS: A total of 5826 individuals from 1331 families in which one or more family member is affected with CL(P). RESULTS: Evidence of association was seen for SNP rs1546124 in U.S. (p = .02) and Brazilian (p = .04) Caucasian cohorts. We also found association of SNP rs1546124 with cleft palate alone (CP) in South Americans (Guatemala and ECLAMC) and combined Hispanics (Guatemala, ECLAMC, and Texas Hispanics; p = .03 for both comparisons) and with both cleft lip with cleft palate (CLP; p = .04) and CL(P) (p = .02) in North Americans. Strong evidence of association was found for SNP rs2326398 with CP in Asian populations (p = .003) and with CL(P) in Hispanics (p = .03) and also with bilateral CL(P) in Brazilians (p = .004). In Brazilians, SNP rs8061351 showed association with cleft subgroups incomplete CL(P) (p = .004) and unilateral incomplete CL(P) (p = .003). Prediction of SNP functionality revealed that the C allele in the C471T silent mutation (overrepresented in cases with CL(P) presents two putative exonic splicing enhancer motifs and creates a binding site AP-2 alpha, a transcription factor involved in craniofacial development. CONCLUSIONS: Our results support the hypothesis that variants in the CRISPLD2 gene may be involved in the etiology of NS CL(P).
OBJECTIVE: To assess the association between nonsyndromic (NS) cleft lip with or without cleft palate (CL(P)) and single-nucleotide polymorphisms (SNPs) within the CRISPLD2 gene (cysteine-rich secretory protein LCCL domain containing 2). DESIGN: Four SNPs within the CRISPLD2 gene domain (rs1546124, rs8061351, rs2326398, rs4783099) were genotyped to test for association via family-based association methods. PARTICIPANTS: A total of 5826 individuals from 1331 families in which one or more family member is affected with CL(P). RESULTS: Evidence of association was seen for SNP rs1546124 in U.S. (p = .02) and Brazilian (p = .04) Caucasian cohorts. We also found association of SNP rs1546124 with cleft palate alone (CP) in South Americans (Guatemala and ECLAMC) and combined Hispanics (Guatemala, ECLAMC, and Texas Hispanics; p = .03 for both comparisons) and with both cleft lip with cleft palate (CLP; p = .04) and CL(P) (p = .02) in North Americans. Strong evidence of association was found for SNP rs2326398 with CP in Asian populations (p = .003) and with CL(P) in Hispanics (p = .03) and also with bilateral CL(P) in Brazilians (p = .004). In Brazilians, SNP rs8061351 showed association with cleft subgroups incomplete CL(P) (p = .004) and unilateral incomplete CL(P) (p = .003). Prediction of SNP functionality revealed that the C allele in the C471T silent mutation (overrepresented in cases with CL(P) presents two putative exonic splicing enhancer motifs and creates a binding site AP-2 alpha, a transcription factor involved in craniofacial development. CONCLUSIONS: Our results support the hypothesis that variants in the CRISPLD2 gene may be involved in the etiology of NS CL(P).
Authors: Tonia C Carter; Anne M Molloy; Faith Pangilinan; James F Troendle; Peadar N Kirke; Mary R Conley; David J A Orr; Michael Earley; Eamon McKiernan; Ena C Lynn; Anne Doyle; John M Scott; Lawrence C Brody; James L Mills Journal: Birth Defects Res A Clin Mol Teratol Date: 2010-02
Authors: Eric C Swindell; Qiuping Yuan; Lorena E Maili; Bhavna Tandon; Daniel S Wagner; Jacqueline T Hecht Journal: Genesis Date: 2015-09-05 Impact factor: 2.487
Authors: Brett T Chiquet; Robin Henry; Amber Burt; John B Mulliken; Samuel Stal; Susan H Blanton; Jacqueline T Hecht Journal: Birth Defects Res A Clin Mol Teratol Date: 2010-11-15
Authors: Amanda Barba; Christian Urbina; Lorena Maili; Matthew R Greives; Steven J Blackwell; John B Mulliken; Brett Chiquet; Susan H Blanton; Jacqueline T Hecht; Ariadne Letra Journal: Birth Defects Res Date: 2019-04-05 Impact factor: 2.344
Authors: Qiuping Yuan; Brett T Chiquet; Laura Devault; Matthew L Warman; Yukio Nakamura; Eric C Swindell; Jacqueline T Hecht Journal: Genesis Date: 2012-08-21 Impact factor: 2.487
Authors: Brett T Chiquet; Qiuping Yuan; Eric C Swindell; Lorena Maili; Robert Plant; Jeffrey Dyke; Ryan Boyer; John F Teichgraeber; Matthew R Greives; John B Mulliken; Ariadne Letra; Susan H Blanton; Jacqueline T Hecht Journal: Eur J Hum Genet Date: 2018-06-13 Impact factor: 4.246
Authors: Beau Sylvester; Frederick Brindopke; Akiko Suzuki; Melissa Giron; Allyn Auslander; Richard L Maas; Becky Tsai; Hanlin Gao; William Magee; Timothy C Cox; Pedro A Sanchez-Lara Journal: Genes (Basel) Date: 2020-08-07 Impact factor: 4.096