Mutation Analysis of the<i>PVRL1</i>Gene in Caucasians with Nonsyndromic Cleft Lip/Palate

Sözen, Mehmet A.; Hecht, Jacqueline; Spritz, Richard A.

doi:10.1089/gtmb.2009.0052

Cited by 16 publications

(12 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The same group demonstrated Pvrl1 mRNA expression in the medial edge epithelium of the palatal shelves (5). Allelic and genotypic association studies of PVRL1 polymorphisms and mutations in NSCL/P patients have yielded inconsistent results, but overall do support the association of PVRL1 defects with risk of NSCL/P (12-14,27,28). In particular, PVRL1 rs7940667 polymorphism was significantly associated with the development of NSCL/P, especially in the isolated forms of CL and CP, in populations from Iowa-USA, Philippines and Denmark (12).…”

Section: Discussionmentioning

confidence: 96%

“…In particular, PVRL1 rs7940667 polymorphism was significantly associated with the development of NSCL/P, especially in the isolated forms of CL and CP, in populations from Iowa-USA, Philippines and Denmark (12). Recently, a lack of association between rs7940667 polymorphism and North American Caucasian, Australian and Guatemalan NSCL/P patients was reported (13,14). JAG2 encodes a ligand for Notch pathway receptors and is required for craniofacial, limb and T cell development (29).…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population

Paranaíba¹,

Aquino²,

Bufalino³

et al. 2013

Med Oral

View full text Add to dashboard Cite

Background and Objective: Nonsyndromic cleft lip and/or palate (NSCL/P) is a complex disease associated with both genetic and environmental factors. One strategy for identifying of possible NSCL/P genetic causes is to evaluate polymorphic variants in genes involved in the craniofacial development. Design: We carried out a case-control analysis of 13 single nucleotide polymorphisms in 9 genes related to craniofacial development, including TBX1, PVRL1, MID1, RUNX2, TP63, TGF?3, MSX1, MYH9 and JAG2, in 367 patients with NSCL/P and 413 unaffected controls from Brazil to determine their association with NSCL/P. Results: Four out of 13 polymorphisms (rs28649236 and rs4819522 of TBX1, rs7940667 of PVRL1 and rs1057744 of JAG2) were presented in our population. Comparisons of allele and genotype frequencies revealed that the G variant allele and the AG/GG genotypes of TBX1 rs28649236 occurred in a frequency significantly higher in controls than in the NSCL/P group (OR: 0.41; 95% CI: 0.25-0.67; p=0.0002). The frequencies of rs4819522, rs7940667 and rs1057744 minor alleles and genotypes were similar between control and NSCL/P group, without significant differences. No significant associations among cleft types and polymorphisms were observed. Conclusion: The study suggests for the first time evidences to an association of the G allele of TBX1 rs28649236 polymorphism and NSCL/P. Key words:Cleft lip, cleft palate, polymorphism, genetic.

show abstract

Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population

Paranaíba¹,

Aquino²,

Bufalino³

et al. 2013

Med Oral

View full text Add to dashboard Cite

show abstract

“…Functional studies showed PRR2 to be an extracellular adhesion molecule mediating homophilic cellular aggregation (Aoki et al, 1997). In addition, mutations in PRR1 gene, a close relation to PRR2 and encoding nectin1, have been shown to be responsible for the autosomal recessive cleft lip or palate ectodermal dysplasia syndrome (CLPED1) (Suzuki et al, 2000) and nsCL/P (Sö zen et al, 2001(Sö zen et al, , 2009aTongkobpetch et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

Association Analysis of the Poliovirus Receptor Related-2 Gene in Patients with Nonsyndromic Cleft Lip with or Without Cleft Palate

Chengle

Kai-hong²,

Ban³

2010

DNA and Cell Biology

View full text Add to dashboard Cite

Nonsyndromic cleft lip with or without cleft palate (nsCL/P) has a complex etiology, which involves both genetic and environmental factors. In this study, we carried out mutation screening of the poliovirus receptor related-2 (PRR2) gene, located at an orofacial cleft (OFC) linkage region 19q13 (OFC3). PRR2 Sau96I (A/G) genotypes of 212 patients with nsCLP and 221 controls were detected using a polymerase chain reaction-restriction fragment length polymerase assay. The results showed significant differences in the genotype and allele distribution of the PRR2 Sau96I (A/G) between the cases and controls. The GG genotype resulted in a significantly raised odds ratio (OR) compared with the AA genotype (OR=3.031; 95% confidence interval: 1.601, 5.742). The G allele showed a significant elevated risk (χ(2) = 26.991, p=0.000, OR=2.147; 95% confidence interval: 1.605, 2.871) compared with the A allele. Hence, our results support the hypothesis that this polymorphism contributes to the risk of nsCL/P, suggesting a possible etiologic role of PRR2 in nsCL/P.

show abstract

“…A follow-up study from the same research team identified heterozygosity of the nonsense W185 · mutation as a genetic risk factor of NSCL/P in a northern Venezuelan population (Sozen et al, 2001). These findings established PVRL1 as a promising candidate gene of NSCL/P, and several subsequent investigations have been conducted on the coding regions of PVRL1 (Item et al, 2003;Scapoli et al, 2004Scapoli et al, , 2006Turhani et al, 2005;Avila et al, 2006;Ichikawa et al, 2006;Tseng et al, 2006;Sozen et al, 2009;Zhao et al, 2009;Shu et al, 2011). Nevertheless, results from different ethnic groups have been conflicting (the findings of these studies are summarized in Table 1).…”

mentioning

confidence: 96%

PVRL1 as a Candidate Gene for Nonsyndromic Cleft Lip With or Without Cleft Palate: No Evidence for the Involvement of Common or Rare Variants in Southern Han Chinese Patients

Cheng

Huang

et al. 2012

DNA and Cell Biology

View full text Add to dashboard Cite

The poliovirus receptor related-1 (PVRL1) gene encodes nectin-1, a cell-cell adhesion molecule (OMIM #600644), and is mutated in the cleft lip with or without cleft palate/ectodermal dysplasia-1 syndrome (CLPED1, OMIM #225000). In addition, PVRL1 mutations have been associated with nonsyndromic cleft lip with or without a cleft palate (NSCL/P) in studies of multiethnic samples. To investigate the possible involvement of this gene in southern Han Chinese NSCL/P patients, we performed (i) a case-control association study, and (ii) a resequencing study. A set of 470 patients with NSCL/P and 693 controls were recruited, and a total of 45 tagging single-nucleotide polymorphisms (SNPs) were genotyped by matrix-assisted laser desorption/ionization timeof-flight mass spectrometry. In the resequencing study, the coding regions of the PVRL1 a isoform were direct sequenced in 45 trios from multiply affected families. One (rs7128327) of the 45 tested SNPs showed a trend toward statistical significance in the genotypic-level chi-square test ( p = 0.009567). However, this result did not withstand correction for multiple testing. Likewise, sliding window haplotype analyses consisting of two, three, or four SNPs failed to detect any positive association. Resequencing analysis also failed to identify any novel rare sequence variants. In conclusion, the present study provided no support for the hypothesis that common or rare variants in PVRL1 play a significant role in NSCL/P development in the southern Han Chinese population. This is the first study that has used tagging SNPs covering all the coding and noncoding regions to search for common NSCL/P-associated mutations of PVRL1.

show abstract

Mutation Analysis of thePVRL1Gene in Caucasians with Nonsyndromic Cleft Lip/Palate

Cited by 16 publications

References 24 publications

Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population

Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population

Association Analysis of the Poliovirus Receptor Related-2 Gene in Patients with Nonsyndromic Cleft Lip with or Without Cleft Palate

PVRL1 as a Candidate Gene for Nonsyndromic Cleft Lip With or Without Cleft Palate: No Evidence for the Involvement of Common or Rare Variants in Southern Han Chinese Patients

Contact Info

Product

Resources

About