PMID- 20815724
OWN - NLM
STAT- MEDLINE
DCOM- 20140930
LR  - 20221207
IS  - 1545-1569 (Electronic)
IS  - 1055-6656 (Print)
IS  - 1055-6656 (Linking)
VI  - 48
IP  - 4
DP  - 2011 Jul
TI  - CRISPLD2 variants including a C471T silent mutation may contribute to 
      nonsyndromic cleft lip with or without cleft palate.
PG  - 363-70
LID - 10.1597/09-227 [doi]
AB  - 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).
FAU - Letra, Ariadne
AU  - Letra A
FAU - Menezes, Renato
AU  - Menezes R
FAU - Cooper, Margaret E
AU  - Cooper ME
FAU - Fonseca, Renata F
AU  - Fonseca RF
FAU - Tropp, Stephen
AU  - Tropp S
FAU - Govil, Manika
AU  - Govil M
FAU - Granjeiro, Jose M
AU  - Granjeiro JM
FAU - Imoehl, Sandra R
AU  - Imoehl SR
FAU - Mansilla, M Adela
AU  - Mansilla MA
FAU - Murray, Jeffrey C
AU  - Murray JC
FAU - Castilla, Eduardo E
AU  - Castilla EE
FAU - Orioli, Ieda M
AU  - Orioli IM
FAU - Czeizel, Andrew E
AU  - Czeizel AE
FAU - Ma, Lian
AU  - Ma L
FAU - Chiquet, Brett T
AU  - Chiquet BT
FAU - Hecht, Jacqueline T
AU  - Hecht JT
FAU - Vieira, Alexandre R
AU  - Vieira AR
FAU - Marazita, Mary L
AU  - Marazita ML
LA  - eng
GR  - R01 DE011931-01A2/DE/NIDCR NIH HHS/United States
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GR  - M01 RR000084-380380/RR/NCRR NIH HHS/United States
GR  - M01 RR000084-420380/RR/NCRR NIH HHS/United States
GR  - R01-DE09886/DE/NIDCR NIH HHS/United States
GR  - R01 DE016148-03/DE/NIDCR NIH HHS/United States
GR  - R01 DE016148-05S2/DE/NIDCR NIH HHS/United States
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GR  - R01-DE016148-04A1/DE/NIDCR NIH HHS/United States
GR  - K99 DE018954-02/DE/NIDCR NIH HHS/United States
GR  - R00 DE018413/DE/NIDCR NIH HHS/United States
GR  - P50 DE016215-050002/DE/NIDCR NIH HHS/United States
GR  - P50 DE016215-010002/DE/NIDCR NIH HHS/United States
GR  - M01 RR000084/RR/NCRR NIH HHS/United States
GR  - R21 DE016930/DE/NIDCR NIH HHS/United States
GR  - R21 DE016718-01/DE/NIDCR NIH HHS/United States
GR  - R01 DE011931-11/DE/NIDCR NIH HHS/United States
GR  - R01 DE016148-05S1/DE/NIDCR NIH HHS/United States
GR  - P50 DE016215/DE/NIDCR NIH HHS/United States
GR  - R01 DE011931-03/DE/NIDCR NIH HHS/United States
GR  - P50-DE016215/DE/NIDCR NIH HHS/United States
GR  - K99 DE018954-02S1/DE/NIDCR NIH HHS/United States
GR  - R01 DE009886-09/DE/NIDCR NIH HHS/United States
GR  - R01 DE009886/DE/NIDCR NIH HHS/United States
GR  - R01 DE012472-02/DE/NIDCR NIH HHS/United States
GR  - P50 DE016215-039002/DE/NIDCR NIH HHS/United States
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GR  - R01 DE011931-08/DE/NIDCR NIH HHS/United States
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20100701
PL  - United States
TA  - Cleft Palate Craniofac J
JT  - The Cleft palate-craniofacial journal : official publication of the American 
      Cleft Palate-Craniofacial Association
JID - 9102566
RN  - 0 (CRISPLD2 protein, human)
RN  - 0 (Cell Adhesion Molecules)
RN  - 0 (Interferon Regulatory Factors)
RN  - 0 (Sp1 Transcription Factor)
RN  - 0 (Transcription Factor AP-2)
RN  - 5Z93L87A1R (Guanine)
RN  - 8J337D1HZY (Cytosine)
RN  - JAC85A2161 (Adenine)
RN  - QR26YLT7LT (Thymine)
SB  - IM
MH  - Adenine
MH  - Alternative Splicing/genetics
MH  - Asian People/genetics
MH  - Case-Control Studies
MH  - Cell Adhesion Molecules/*genetics
MH  - Cleft Lip/*genetics
MH  - Cleft Palate/*genetics
MH  - Cohort Studies
MH  - *Cytosine
MH  - Enhancer Elements, Genetic/genetics
MH  - Exons/genetics
MH  - Gene Frequency/genetics
MH  - Genetic Variation/*genetics
MH  - Genotype
MH  - Guanine
MH  - Haplotypes/genetics
MH  - Heterozygote
MH  - Hispanic or Latino/genetics
MH  - Humans
MH  - Interferon Regulatory Factors/*genetics
MH  - Linkage Disequilibrium/genetics
MH  - Mutation/*genetics
MH  - Polymorphism, Single Nucleotide/*genetics
MH  - Sp1 Transcription Factor/genetics
MH  - *Thymine
MH  - Transcription Factor AP-2/genetics
MH  - White People/genetics
PMC - PMC3000893
MID - NIHMS219001
EDAT- 2010/09/08 06:00
MHDA- 2014/10/01 06:00
PMCR- 2011/07/16
CRDT- 2010/09/07 06:00
PHST- 2010/09/07 06:00 [entrez]
PHST- 2010/09/08 06:00 [pubmed]
PHST- 2014/10/01 06:00 [medline]
PHST- 2011/07/16 00:00 [pmc-release]
AID - 10.1597/09-227 [doi]
PST - ppublish
SO  - Cleft Palate Craniofac J. 2011 Jul;48(4):363-70. doi: 10.1597/09-227. Epub 2010 
      Jul 1.