IR@PKUHSC  > 北京大学口腔医学院
学科主题口腔医学
CRISPLD2 Variants Including a C471T Silent Mutation May Contribute to Nonsyndromic Cleft Lip With or Without Cleft Palate
Letra, Ariadne1; Menezes, Renato1; Cooper, Margaret E.1; Fonseca, Renata F.5; Tropp, Stephen; Govil, Manika1; Granjeiro, Jose M.6; Imoehl, Sandra R.7; Mansilla, M. Adela8; Murray, Jeffrey C.8; Castilla, Eduardo E.9; Orioli, Ieda M.5; Czeizel, Andrew E.10; Ma, Lian11; Chiquet, Brett T.12,13; Hecht, Jacqueline T.12,13; Vieira, Alexandre R.1,2,14; Marazita, Mary L.1,2,3,4
关键词cleft lip cleft palate CRISPLD2 gene subphenotypes
刊名CLEFT PALATE-CRANIOFACIAL JOURNAL
2011-07-01
DOI10.1597/09-227
48期:4页:363-370
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Dentistry, Oral Surgery & Medicine ; Surgery
资助者FAPERJ ; CNPq ; CAPES, Brazil ; Children of the Americas ; National Institutes of Health (NIH) ; FAPERJ ; CNPq ; CAPES, Brazil ; Children of the Americas ; National Institutes of Health (NIH)
研究领域[WOS]Dentistry, Oral Surgery & Medicine ; Surgery
关键词[WOS]ORAL CLEFTS ; GENOME-SCAN ; UNIFIED APPROACH ; CANDIDATE GENE ; ASSOCIATION ; LINKAGE ; LOCI ; POPULATION ; PHENOTYPE ; TESTS
英文摘要

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).

语种英语
所属项目编号E-26/152.831/2006 ; 308885/2006-0 ; 401467/2004-0 ; K99-DE018954 ; K99-DE018913 ; R21-DE016718 ; R01-DE016148 ; P50-DE016215 ; R37-DE008559 ; R21-DE016930 ; R01-DE09886 ; R01-DE012472 ; R01-DE016148-04A1 ; K99-DE018085
资助者FAPERJ ; CNPq ; CAPES, Brazil ; Children of the Americas ; National Institutes of Health (NIH) ; FAPERJ ; CNPq ; CAPES, Brazil ; Children of the Americas ; National Institutes of Health (NIH)
WOS记录号WOS:000296019900002
Citation statistics
Cited Times:13[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/62326
Collection北京大学口腔医学院
作者单位1.Fdn Community Control Hereditary Dis, Budapest, Hungary
2.Beijing Univ, Sch Stomatol, Beijing 100871, Peoples R China
3.Univ Iowa, Coll Dent, Iowa City, IA 52242 USA
4.Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA
5.Fiocruz MS, Dept Genet, BR-21045900 Rio De Janeiro, Brazil
6.Univ Pittsburgh, Ctr Craniofacial & Dent Genet, Dept Oral Biol, Sch Dent Med, Pittsburgh, PA 15219 USA
7.Univ Pittsburgh, Dept Human Genet, Grad Sch Publ Hlth, Pittsburgh, PA 15219 USA
8.Univ Pittsburgh, Dept Psychiat, Sch Med, Pittsburgh, PA 15219 USA
9.Univ Pittsburgh, Clin & Translat Sci Inst, Sch Med, Pittsburgh, PA 15219 USA
10.Univ Fed Rio de Janeiro, Dept Genet, Rio De Janeiro, Brazil
11.Univ Fed Fluminense, Dept Cell & Mol Biol, Niteroi, RJ, Brazil
12.Univ Texas Med Sch, Dept Pediat, Houston, TX USA
13.Univ Texas Med Sch, Pediat Res Ctr, Houston, TX USA
14.Univ Pittsburgh, Sch Dent Med, Dept Pediat Dent, Pittsburgh, PA 15219 USA
Recommended Citation
GB/T 7714
Letra, Ariadne,Menezes, Renato,Cooper, Margaret E.,et al. CRISPLD2 Variants Including a C471T Silent Mutation May Contribute to Nonsyndromic Cleft Lip With or Without Cleft Palate[J]. CLEFT PALATE-CRANIOFACIAL JOURNAL,2011,48(4):363-370.
APA Letra, Ariadne.,Menezes, Renato.,Cooper, Margaret E..,Fonseca, Renata F..,Tropp, Stephen.,...&Marazita, Mary L..(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.
MLA Letra, Ariadne,et al."CRISPLD2 Variants Including a C471T Silent Mutation May Contribute to Nonsyndromic Cleft Lip With or Without Cleft Palate".CLEFT PALATE-CRANIOFACIAL JOURNAL 48.4(2011):363-370.
Files in This Item:
There are no files associated with this item.
Related Services
Recommend this item
Bookmark
Usage statistics
Export to Endnote
谷歌学术
谷歌学术Similar articles in
[Letra, Ariadne]'s Articles
[Menezes, Renato]'s Articles
[Cooper, Margaret E.]'s Articles
百度学术
百度学术Similar articles in
[Letra, Ariadne]'s Articles
[Menezes, Renato]'s Articles
[Cooper, Margaret E.]'s Articles
必应学术
必应学术Similar articles in
[Letra, Ariadne]'s Articles
[Menezes, Renato]'s Articles
[Cooper, Margaret E.]'s Articles
Terms of Use
No data!
Social Bookmark/Share
All comments (0)
No comment.
 

Items in the repository are protected by copyright, with all rights reserved, unless otherwise indicated.