Detection and functional analysis of an SNP in the promoter of the human ferritin H gene that modulates the gene expression

Faniello, Maria Concetta; Fregola, Annalisa; Nisticò, Antonia; Quaresima, Barbara; Crugliano, Telma; Faraonio, Raffaella; Puzzonia, Pasquale; Baudi, Francesco; Parlato, Giuseppe; Cuda, Giovanni; Morrone, Giovanni; Venuta, Salvatore; Costanzo, Francesco

doi:10.1016/j.gene.2006.02.034

Cited by 9 publications

(5 citation statements)

References 23 publications

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“…It is worth noting that altered transmission of rs1546124 was also found in a Caucasian population (4). The SNP rs1546124 is located in exon 2 of CRISPLD2 and the sequence change in this region could affect CRISPLD2 protein expression, which could subsequently affect the development processes (10). Therefore, rs1546124 may play a functional role and needs to be further investigated.…”

Section: Resultsmentioning

confidence: 99%

CRISPLD2 polymorphisms are associated with non‐syndromic cleft lip with or without cleft palate in a northern Chinese population

Shi

Jiao

Song

et al. 2010

European J Oral Sciences

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Non-syndromic cleft lip with or without cleft palate (NSCLP) is the most common craniofacial birth defect. This complex genetic disorder results from interactions between genes and environmental factors. Numerous genes have been reported in studies demonstrating association between the cleft lip and palate phenotypes and the alleles at single-nucleotide polymorphisms (SNPs) within specific genes. Recently, the cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2) has been revealed to be a novel candidate gene for NSCLP. The SNPs rs1546124, rs4783099 and rs16974880 in CRISPLD2 were highly significant in Caucasian and Hispanic multiplex families but showed no association in Colombian and Irish populations. In the current study, we examined these three SNPs in a northern Chinese population and found an association between these polymorphisms and NSCLP in both single-marker and haplotype analyses. Our data further strengthen the conclusion that altered CRISPLD2 is associated with NSCLP susceptibility.

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Section: Resultsmentioning

confidence: 99%

CRISPLD2 polymorphisms are associated with non‐syndromic cleft lip with or without cleft palate in a northern Chinese population

Shi

Jiao

Song

et al. 2010

European J Oral Sciences

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show abstract

“…In the Caucasian population, SNP rs1546124, which is in exon 2, 51 bp upstream of the ATG start codon, showed significantly altered transmission (P = 0.01). This sequence change in the putative promoter region could disrupt different regulatory elements, such as, an RNA polymerase binding or transcription factor activator/inhibitor binding; either could affect CRISPLD2 protein expression which would affect the developmental process (37,38). To determine if this is theoretically the case, two transcription binding site prediction programs, PATCH and AliBaba2, were used (39,40).…”

Section: Discussionmentioning

confidence: 99%

CRISPLD2: a novel NSCLP candidate gene

Chiquet¹,

Lidral²,

Stal³

et al. 2007

Human Molecular Genetics

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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. In situ hybridization showed that CRISPLD2 is expressed in the mandible, palate and nasopharynx regions during craniofacial development at E13.5-E17.5, respectively. Altogether, these data suggest that genetic variation in CRISPLD2 has a role in the etiology of NSCLP.

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Section: Discussionmentioning

confidence: 99%

CRISPLD2: a novel NSCLP candidate gene

Chiquet¹,

Lidral²,

Stal³

et al. 2007

Human Molecular Genetics

View full text Add to dashboard Cite

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. In situ hybridization showed that CRISPLD2 is expressed in the mandible, palate and

show abstract

Detection and functional analysis of an SNP in the promoter of the human ferritin H gene that modulates the gene expression

Cited by 9 publications

References 23 publications

CRISPLD2 polymorphisms are associated with non‐syndromic cleft lip with or without cleft palate in a northern Chinese population

CRISPLD2 polymorphisms are associated with non‐syndromic cleft lip with or without cleft palate in a northern Chinese population

CRISPLD2: a novel NSCLP candidate gene

CRISPLD2: a novel NSCLP candidate gene

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