Association of CDKAL1 nucleotide variants with the risk of non-syndromic cleft lip with or without cleft palate

Gaczkowska, Agnieszka; Żukowski, Kacper; Biedziak, Barbara; Hozyasz, Kamil K.; Wójcicki, Piotr; Zadurska, Małgorzata; Budner, Margareta; Lasota, Agnieszka; Szponar‐Żurowska, Anna; Jagodzińśki, Paweł P.; Mostowska, Adrianna

doi:10.1038/s10038-017-0397-4

Cited by 6 publications

(3 citation statements)

References 43 publications

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“…The present study was designed similar to our previous cleft association studies (Gaczkowska et al, ; Mostowska et al, ). Data on common single nucleotide polymorphisms (SNPs) located within the PAX7 locus were retrieved from our GWAS for nsCL/P (unpublished results), which was performed with the use of the HumanOmniExpressExome v1 array (Illumina).…”

Section: Methodsmentioning

confidence: 93%

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PAX7nucleotide variants and the risk of non‐syndromic orofacial clefts in the Polish population

Gaczkowska

Biedziak

Budner³

et al. 2019

Oral Diseases

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Objective The etiology of non‐syndromic cleft lip with or without cleft palate (nsCL/P) is multifactorial, heterogeneous, and still not completely understood. The aim of the present study was to examine the associations between common and rare PAX7 nucleotide variants and the risk of this common congenital anomaly in a Polish population. Subjects and methods Eight top nsCL/P‐associated PAX7 variants identified in our cleft genome‐wide association study (GWAS) were selected for replication analysis in an independent group of patients and controls (n = 247 and n = 445, respectively). In addition, mutation screening of the PAX7 protein‐coding region was conducted. Results Analysis of the pooled data from the GWAS and replication study confirmed that common PAX7 nucleotide variants are significantly associated with the increased risk of nsCL/P. The strongest individual variant was rs1339062 (c.586 + 15617T > C) with a p‐value = 2.47E−05 (OR = 1.4, 95%CI: 1.20–1.64). Sequencing analysis identified a novel synonymous PAX7 substitution (c.87G > A, p.Val29Val) in a single patient with nsCLP. This transition located in the early exonic position was predicted to disrupt potential splice enhancer elements. Conclusion Our study confirmed that PAX7 is a strong candidate gene for nsCL/P. Nucleotide variants of this gene contribute to the etiology of nsCL/P in the homogenous Polish population.

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Section: Methodsmentioning

confidence: 93%

“…Statistical methods are described elsewhere (Gaczkowska et al, ; Mostowska et al, ). Briefly, statistical analyses were conducted separately using data from GWAS and replication cohort.…”

Section: Methodsmentioning

confidence: 99%

PAX7nucleotide variants and the risk of non‐syndromic orofacial clefts in the Polish population

Gaczkowska

Biedziak

Budner³

et al. 2019

Oral Diseases

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“…Finally, an association of the CDKAL1 SPN variant that comes with the risk of nonsyndromic cleft lip with or without a cleft palate was detected (Fig. 2) [46].…”

Section: Cdkal1mentioning

confidence: 90%

S-adenosylmethionine tRNA modification: unexpected/unsuspected implications of former/new players

Adami¹,

Bottai²

2020

Int. J. Biol. Sci.

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S-adenosylmethionine supplies methyl groups to many acceptors, including lipids, proteins, RNA, DNA, and a wide range of small molecules. It acts as the precursor in the biosynthesis of metal ion chelating compounds, such as nicotianamine and phytosiderophores, of the polyamines spermidine and spermine and of some plant hormones. Finally, it is the source of catalytic 5′-deoxyadenosyl radicals. Radical S-adenosylmethionine (SAM) enzymes (RS) represent one of the most abundant groups (more than 100,000) of enzymes, exerting a plethora of biological functions, some of which are still unknown. In this work, we will focus on two RS: CDK5RAP1 and CDKAL1, both of which are involved in tRNA modifications that result in important tRNA folding and stability and in maintaining high translational fidelity. Based on this crucial role, their impairment can be important in the development of different human diseases.

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Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing

et al. 2022

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Association of CDKAL1 nucleotide variants with the risk of non-syndromic cleft lip with or without cleft palate

Cited by 6 publications

References 43 publications

PAX7nucleotide variants and the risk of non‐syndromic orofacial clefts in the Polish population

PAX7nucleotide variants and the risk of non‐syndromic orofacial clefts in the Polish population

S-adenosylmethionine tRNA modification: unexpected/unsuspected implications of former/new players

Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing

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