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
| العنوان: | 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 |
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| المؤلفون: | Shenyou Shu, Hongqiu Cheng, Shijie Tang, Enmin Huang, Mingyan Xu |
| المصدر: | DNA and Cell Biology. 31:1321-1327 |
| بيانات النشر: | Mary Ann Liebert Inc, 2012. |
| سنة النشر: | 2012 |
| مصطلحات موضوعية: | Adult, Male, Gene isoform, Han chinese, Candidate gene, Adolescent, Cleft Lip, Nectins, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Young Adult, Asian People, Original Research Articles, Ethnicity, Genetics, Humans, Coding region, Child, Promoter Regions, Genetic, Molecular Biology, Gene, Haplotype, Infant, Cell Biology, General Medicine, Middle Aged, Introns, Cleft Palate, Child, Preschool, Mutation, Multiple comparisons problem, Female, Cell Adhesion Molecules |
| الوصف: | 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 time-of-flight mass spectrometry. In the resequencing study, the coding regions of the PVRL1 α 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. |
| تدمد: | 1557-7430 1044-5498 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf51b77ff116748dd334985643788fd5 https://doi.org/10.1089/dna.2011.1556 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....bf51b77ff116748dd334985643788fd5 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15577430 10445498 |
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