Polymorphic variants at 10q25.3 and 17q22 loci and the risk of non‐syndromic cleft lip and palate in the polish population

Mostowska, Adrianna; Hozyasz, Kamil K.; Wójcicka, Karolina; Biedziak, Barbara; Jagodzińśki, Paweł P.

doi:10.1002/bdra.22862

Cited by 26 publications

(31 citation statements)

References 35 publications

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“…Similar values were reported from a study by Mostowska et al 20 on another Central European (Polish) population. Evidence for the involvement of this locus in the nsCL/P aetiology was originally reported by GWAS of Mangold et al…”

Section: Discussionsupporting

confidence: 91%

“…The allelic frequencies for all the tested SNPs in control group (Table 1) did not differ significantly from an- other publicly available data on Caucasian populations (http://www.ensembl.org) and were also similar to the frequencies reported from other case-control studies conducted on Central European populations 10,12,19,20 . With respect to allele distributions, the significant associations with nsCL/P risk, persisting even after Bonferroni correction for multiple comparisons, were found for SNPs at the 1q32, 8q24 and 17q22 loci.…”

Section: Resultssupporting

confidence: 81%

“…SNP rs7078160 is intergenic, located near the VAX1 gene encoding a transcriptional regulator with a DNA-binding homeobox domain. An association between rs7078160 and nsCL/P has been replicated in several studies, which included European and Mesoamerican samples 20,21,37 , but Chinese and Kenyan studies 33,34 have reported contradictory results. A meta-analysis of 7 eligible studies 38 showed only a modest association of rs7078160 with nsCL/P risk.…”

Section: Discussionmentioning

confidence: 88%

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Polymorphisms at 1q32, 8q24, and 17q22 loci are associated with nonsyndromic cleft lip with or without cleft palate risk in the Slovak population

Salagovic¹,

Klimčáková²,

Zabavnikova³

et al. 2017

BIOMED PAP

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Background. Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is the most common orofacial birth defect with an aetiology involving both genetic and environmental factors. Genome-wide association studies (GWAS) have identified several genomic susceptibility regions for nsCL/P. In the present study, the three well established single nucleotide polymorphisms (SNPs) identified by GWAS (rs987525 at 8q24, rs7078160 at 10q25, and rs227731 at 17q22 loci) and one SNP identified by candidate gene study (rs642961 in IRF6 gene at 1q32 locus) were analysed for an association with nsCL/P in Slovak population. Methods. Nucleotide variants were genotyped in 165 nsCL/P patients and 326 unaffected controls. All variants of interest were genotyped using high-resolution melting analysis after real-time PCR. Results. We found significant differences between patient and control groups with respect to the allele and genotype frequencies for the SNPs at the 1q32, 8q24, and 17q22 loci. SNP at the 10q25 locus showed a trend toward association with nsCL/P risk. Conclusions.The results suggest that SNPs at the 1q32, 8q24 and 17q22 loci may contribute to the nsCL/P risk in Slovak population.

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Section: Discussionsupporting

confidence: 91%

Section: Resultssupporting

confidence: 81%

Section: Discussionmentioning

confidence: 88%

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Polymorphisms at 1q32, 8q24, and 17q22 loci are associated with nonsyndromic cleft lip with or without cleft palate risk in the Slovak population

Salagovic¹,

Klimčáková²,

Zabavnikova³

et al. 2017

BIOMED PAP

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“…Mangold et al () identified a new locus associated with NSCL/P at 17q22 (rs227731 and rs17760296). In a Polish population, rs227731 polymorphism increased the risk of NSCL/P when analyzed under a dominant model (Mostowska et al, ). The presence of the C risk allele of rs227731 was also significantly associated with NSCL/P in a population from Honduras (Lennon et al, ).…”

Section: Discussionmentioning

confidence: 99%

Analysis of susceptibility polymorphisms for nonsyndromic cleft lip with or without cleft palate in the Brazilian population

Aquino

Messetti

Hoshi

et al. 2014

Birth Defects Research

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Background: Although genome‐wide association studies have identified several susceptibility loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P) in populations around the world, the role of most loci is unknown in the highly heterogeneous Brazilian population. Methods: To determine the association of 7 markers that showed genome‐wide significant association in Brazilians with NSCL/P, we conducted a structured association study conditioned upon the individual ancestry proportions to evaluate markers at 1p36 (rs742071), 2p21 (rs7590268), 3p11.1 (rs7632427), 8q21.3 (rs12543318), 13q31.1 (rs8001641), 15q22.2 (rs1873147), and 17q22 (rs227731) in 505 patients with NSCL/P and 594 healthy controls recruited from 2 different geographical regions of Brazil. The polymorphisms were genotyped by TaqMan 5′‐exonuclease allelic discrimination assay, and each sample was independently typed for 40 biallelic short insertion/deletion markers to characterize the genomic ancestry. Results: After Bonferroni correction for multiple tests, significant associations with NSCL/P were observed for rs742071, rs1873147, and rs227731. However, the frequency of the risk alleles varied between the geographical regions, according to the proportions of European and African genomic ancestry. The group enriched by European ancestry showed significant association with rs227731 (p = 0.001), whereas the group with high African ancestry was significantly associated with rs1873147 polymorphism (p = 0.005). The significant association with rs742071 was only detected in the combined sample (p = 0.005). Conclusion: The findings of the present study revealed the associations of 1p36 (rs742071), 15q22 (rs1873147), and 17p22 (rs227731) with NSCL/P in the Brazilian population, and further confirmed that the genetic heterogeneity of NSCL/P may be related to the different ethnic background of the affected individuals. Birth Defects Research (Part A) 100:36–42, 2014. © 2013 Wiley Periodicals, Inc.

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“…The most significant genes/loci identified by these studies are as follows: interferon regulatory factor 6 ( IRF6 ); v‐maf musculoaponeurotic fibrosarcoma oncogene homolog B ( MAFB ); ATP‐binding cassette, sub‐family A ( ABC1 ), member 4 ( ABCA4 ); noggin ( NOG ); ventral anterior homeobox 1 ( VAX1 ); Pvt1 oncogene ( PVT1 ); gasdermin C ( GSDMC ); coiled‐coil domain containing 26 ( CCDC26 ); paired box 7 ( PAX7 ); netrin 1 ( NTN1 ); and KIAA1598 (undefined). Some of these loci have been successfully confirmed in other populations [Nikopensius et al, ; Rojas‐Martinez et al, ; Yuan et al, ; Mostowska et al, ; Pan et al, ; Xu et al, ; Huang et al, ], indicating that some common loci are important determinant of NSOC in different ethnic groups.…”

Section: Introductionmentioning

confidence: 97%

Association and cumulative effects of GWAS‐identified genetic variants for nonsyndromic orofacial clefts in a Chinese population

Pan

Han

Zhang

et al. 2013

Environ and Mol Mutagen

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A recent genome-wide meta-analysis identified six new susceptible genetic variants for nonsyndromic orofacial clefts (NSOC), but it was still unknown whether these newly identified variants were associated with NSOC susceptibility in Chinese populations. In this study, we genotyped these variants in a case-control study of 602 NSOC cases and 605 controls and found that four of these variants (rs7590268, rs7632427, rs12543318, and rs1873147) were associated with susceptibility to NSOC. We further investigated the cumulative effects of these four variants and found a dose-dependent increase in risk with the number of variant alleles. Furthermore, an association was observed between rs7590268 and a family history of NSOC. Our results provide confirmative evidence that these risk loci contribute to NSOC susceptibility in Chinese populations.

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Polymorphic variants at 10q25.3 and 17q22 loci and the risk of non‐syndromic cleft lip and palate in the polish population

Abstract: Our evaluation study confirmed a substantial association of polymorphisms located at chromosomal regions 10q25.3 and 17q22 with nonsyndromic CLP in the Polish population.

Cited by 26 publications

References 35 publications

Polymorphisms at 1q32, 8q24, and 17q22 loci are associated with nonsyndromic cleft lip with or without cleft palate risk in the Slovak population

Polymorphisms at 1q32, 8q24, and 17q22 loci are associated with nonsyndromic cleft lip with or without cleft palate risk in the Slovak population

Analysis of susceptibility polymorphisms for nonsyndromic cleft lip with or without cleft palate in the Brazilian population

Association and cumulative effects of GWAS‐identified genetic variants for nonsyndromic orofacial clefts in a Chinese population

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