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
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
WOS记录号WOS:000296019900002
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
资助机构FAPERJ ; CNPq ; CAPES, Brazil ; Children of the Americas ; National Institutes of Health (NIH)
引用统计
被引频次:14[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/62326
专题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
推荐引用方式
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.
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