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CRISPLD2 variants including a C471T silent mutation may contribute to nonsyndromic cleft lip with or without cleft palate

Letra, A and Menezes, R and Cooper, ME and Fonseca, RF and Tropp, S and Govil, M and Granjeiro, JM and Imoehl, SR and Mansilla, MA and Murray, JC and Castilla, EE and Orioli, IM and Czeizel, AE and Ma, L and Chiquet, BT and Hecht, JT and Vieira, AR and Marazita, ML (2011) CRISPLD2 variants including a C471T silent mutation may contribute to nonsyndromic cleft lip with or without cleft palate. Cleft Palate-Craniofacial Journal, 48 (4). 363 - 370. ISSN 1055-6656

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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).


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Letra, A
Menezes, R
Cooper, ME
Fonseca, RF
Tropp, S
Govil, M
Granjeiro, JM
Imoehl, SR
Mansilla, MA
Murray, JC
Castilla, EE
Orioli, IM
Czeizel, AE
Ma, L
Chiquet, BT
Hecht, JT
Vieira, ARarv11@pitt.eduARV11
Marazita, MLmarazita@pitt.eduMARAZITA
Date: 1 July 2011
Date Type: Publication
Journal or Publication Title: Cleft Palate-Craniofacial Journal
Volume: 48
Number: 4
Page Range: 363 - 370
DOI or Unique Handle: 10.1597/09-227
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 1055-6656
Other ID: NLM NIHMS219001, NLM PMC3000893
PubMed Central ID: PMC3000893
PubMed ID: 20815724
Date Deposited: 20 Sep 2012 17:55
Last Modified: 20 Feb 2020 13:55


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