Novel Cleft Susceptibility Genes in Chromosome 6q

被引：24

作者：

Letra, A. ^{[1
,2
]}

Menezes, R. ^{[1
,2
]}

Fonseca, R. F. ^{[6
]}

Govil, M. ^{[1
,2
]}

McHenry, T. ^{[1
,2
]}

Murphy, M. J. ^{[10
]}

Hennebold, J. D. ^{[10
]}

Granjeiro, J. M. ^{[11
]}

Castilla, E. E. ^{[7
,8
,9
]}

Orioli, I. M. ^{[6
]}

Martin, R. ^{[12
]}

Marazita, M. L. ^{[1
,2
,4
,5
]}

Bjork, B. C. ^{[13
]}

Vieira, A. R. ^{[1
,2
,3
,4
]}

机构：

[1] Univ Pittsburgh, Dept Oral Biol, Pittsburgh, PA 15261 USA

[2] Univ Pittsburgh, Ctr Craniofacial & Dent Genet, Pittsburgh, PA 15261 USA

[3] Univ Pittsburgh, Sch Dent Med, Dept Pediat Dent, Pittsburgh, PA 15261 USA

[4] Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15261 USA

[5] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA 15261 USA

[6] Univ Fed Rio de Janeiro, Ctr Hlth Sci, Dept Genet, ECLAMC, BR-21941 Rio De Janeiro, Brazil

[7] Inst Oswaldo Cruz, ECLAMC, BR-20001 Rio De Janeiro, Brazil

[8] Inst Oswaldo Cruz, INaGeMP, BR-20001 Rio De Janeiro, Brazil

[9] CEMIC, Buenos Aires, DF, Argentina

[10] Oregon Hlth & Sci Univ, Oregon Natl Primate Res Ctr, Div Reprod Sci, Portland, OR 97201 USA

[11] Univ Fed Fluminense, Inst Biol, Dept Cell & Mol Biol, BR-24220000 Niteroi, RJ, Brazil

[12] St Louis Univ, Dept Pediat, St Louis, MO 63103 USA

[13] Harvard Univ, Brigham & Womens Hosp, Sch Med, Div Genet, Boston, MA 02115 USA

来源：

JOURNAL OF DENTAL RESEARCH | 2010年 / 89卷 / 09期

基金：

美国国家卫生研究院;

关键词：

cleft lip/palate; fine mapping; chromosome; 6q; polymorphism; MATRIX METALLOPROTEINASES; POSTERIOR PROBABILITY; LIP; PALATE; ASSOCIATION; LOCI; IDENTIFICATION; POLYMORPHISMS; LIP/PALATE; INHIBITORS;

D O I：

10.1177/0022034510370004

中图分类号：

R78 [口腔科学];

学科分类号：

1003 ;

摘要：

Cleft lip/palate is a defect of craniofacial development. In previous reports, chromosome 6q has been suggested as a candidate region for cleft lip/palate. A multipoint posterior probability of linkage analysis of multiplex families from the Philippines attributed an 88% probability of harboring a cleft-susceptibility gene to a narrower region on bands 6q14.2-14.3. We genotyped 2732 individuals from families and unrelated individuals with and without clefts to investigate the existence of possible cleft-susceptibility genes in this region. We found association of PRSS35 and SNAP91 genes with cleft lip/palate in the case-control cohort and in Caucasian families. Haplotype analyses support the individual associations with PRSS35. We found Prss35 expression in the head and palate of mouse embryos at critical stages for palatogenesis, whereas Snap91 was expressed in the adult brain. We provide further evidence of the involvement of chromosome 6q in cleft lip/palate and suggest PRSS35 as a novel candidate gene.

引用

页码：927 / 932

页数：6

共 33 条

[1] TGF-β3-induced palatogenesis requires matrix metalloproteinases [J].