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学科主题: 口腔医学
题名:
CRISPLD2 Variants Including a C471T Silent Mutation May Contribute to Nonsyndromic Cleft Lip With or Without Cleft Palate
作者: 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
发表日期: 2011-07-01
DOI: 10.1597/09-227
卷: 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
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
项目资助者: FAPERJ ; CNPq ; CAPES, Brazil ; Children of the Americas ; National Institutes of Health (NIH)
WOS记录号: WOS:000296019900002
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/62326
Appears in Collections:北京大学口腔医学院_期刊论文

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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:
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.
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