CRISPLD2: A novel NSCLP candidate gene

Brett T. Chiquet, Andrew C. Lidral, Samuel Stal, John B. Mulliken, Lina M. Moreno, Mauricio Arco-Burgos, Consuelo Valencia-Ramirez, Susan H Blanton, Jacqueline T. Hecht

Research output: Contribution to journalArticle

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Abstract

Non-syndromic cleft lip with or without cleft palate (NSCLP) results from the complex interaction between genes and environmental factors. Candidate gene analysis and genome scans have been employed to identify the genes contributing to NSCLP. In this study, we evaluated the 16q24.1 chromosomal region, which has been identified by multiple genome scans as an NSCLP region of interest. Two candidate genes were found in the region: interferon regulatory factor 8 (IRF8) and cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2). Initially, Caucasian and Hispanic NSCLP multiplex families and simplex parent-child trios were genotyped for single nucleotide polymorphisms (SNPs) in both IRF8 and CRISPLD2. CRISPLD2 was subsequently genotyped in a data set comprised of NSCLP families from Colombia, South America. Linkage disequilibrium analysis identified a significant association between CRISPLD2 and NSCLP in both our Caucasian and Hispanic NSCLP cohorts. SNP rs1546124 and haplotypes between rs1546124 and either rs4783099 or rs16974880 were significant in the Caucasian multiplex population (P=0.01, P=0.002 and P=0.001, respectively). An altered transmission of CRISPLD2 SNPs rs8061351 (P=0.02) and rs2326398 (P=0.06) was detected in the Hispanic population. No association was found between CRISPLD2 and our Colombian population or IRF8 and NSCLP.

Original languageEnglish
Pages (from-to)2241-2248
Number of pages8
JournalHuman Molecular Genetics
Volume16
Issue number18
DOIs
StatePublished - Sep 15 2007

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Cysteine
Hispanic Americans
Genes
Single Nucleotide Polymorphism
Genome
Population
Colombia
South America
Cleft Lip
Linkage Disequilibrium
Genetic Association Studies
Cleft Palate
Haplotypes
Protein Domains
interferon regulatory factor-8

ASJC Scopus subject areas

  • Genetics

Cite this

Chiquet, B. T., Lidral, A. C., Stal, S., Mulliken, J. B., Moreno, L. M., Arco-Burgos, M., ... Hecht, J. T. (2007). CRISPLD2: A novel NSCLP candidate gene. Human Molecular Genetics, 16(18), 2241-2248. https://doi.org/10.1093/hmg/ddm176

CRISPLD2 : A novel NSCLP candidate gene. / Chiquet, Brett T.; Lidral, Andrew C.; Stal, Samuel; Mulliken, John B.; Moreno, Lina M.; Arco-Burgos, Mauricio; Valencia-Ramirez, Consuelo; Blanton, Susan H; Hecht, Jacqueline T.

In: Human Molecular Genetics, Vol. 16, No. 18, 15.09.2007, p. 2241-2248.

Research output: Contribution to journalArticle

Chiquet, BT, Lidral, AC, Stal, S, Mulliken, JB, Moreno, LM, Arco-Burgos, M, Valencia-Ramirez, C, Blanton, SH & Hecht, JT 2007, 'CRISPLD2: A novel NSCLP candidate gene', Human Molecular Genetics, vol. 16, no. 18, pp. 2241-2248. https://doi.org/10.1093/hmg/ddm176
Chiquet BT, Lidral AC, Stal S, Mulliken JB, Moreno LM, Arco-Burgos M et al. CRISPLD2: A novel NSCLP candidate gene. Human Molecular Genetics. 2007 Sep 15;16(18):2241-2248. https://doi.org/10.1093/hmg/ddm176
Chiquet, Brett T. ; Lidral, Andrew C. ; Stal, Samuel ; Mulliken, John B. ; Moreno, Lina M. ; Arco-Burgos, Mauricio ; Valencia-Ramirez, Consuelo ; Blanton, Susan H ; Hecht, Jacqueline T. / CRISPLD2 : A novel NSCLP candidate gene. In: Human Molecular Genetics. 2007 ; Vol. 16, No. 18. pp. 2241-2248.
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