Complex analysis of multiple single nucleotide polymorphisms as putative risk factors of tooth agenesis in the Hungarian population

Jobbágy-Ovári, Gabriella; Páska, Csilla; Stiedl, Péter; Trimmel, Bálint; Hontvári, Dorina; Soós, Borbála; Hermann, Péter; Tóth, Zsuzsanna; Kerekes-Máthé, Bernadette; Nagy, Dávid U.; Szántó, Ildikó; Nagy, Ákos; Martonosi, Mihály; Nagy, Katalin; Hadadi, Éva; Szalai, Csaba; Hullám, Gábor; Temesi, Gergely; Antal, Péter; Varga, Gábor; Tarján, I

doi:10.3109/00016357.2013.822547

Cited by 5 publications

(7 citation statements)

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“…The findings indicated a synergic effect of the 2 polymorphisms. In all 3 studies, these polymorphisms are termed “G‐1031A” in the case of rs2073244 and “T‐912C” in the case of rs2073246 . There appears to be, however, no specified reference sequence given according to which the polymorphisms were aligned, nor is there any information on the point from where the numbering starts.…”

Section: Mutations and Polymorphisms In The Pax9 Genementioning

confidence: 99%

PAX9 gene mutations and tooth agenesis: A review

2017

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Paired box 9 (PAX9) is one of the best-known transcription factors involved in the development of human dentition. Mutations in PAX9 gene could, therefore, seriously influence the number, position and morphology of the teeth in an affected individual. To date, over 50 mutations in the gene have been reported as associated with various types of dental agenesis (congenitally missing teeth) and other inherited dental defects or variations. The most common consequence of PAX9 gene mutation is the autosomal-dominant isolated (non-syndromic) oligodontia or hypodontia. In the present review, we are summarizing all known PAX9 mutations as well as their nature and precise loci in the DNA sequence of the gene. Where necessary, we have revised the loci of the mutations in line with the reference sequence of the PAX9 gene as it appears in the current DNA databases.

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Section: Mutations and Polymorphisms In The Pax9 Genementioning

confidence: 99%

PAX9 gene mutations and tooth agenesis: A review

2017

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“…however, this was not significant after adjusting for sex, ethnicity and multiple testing ( to play a role in hypodontia. 8,11,23,24,30 A meta-analysis of current findings with previous findings 10 suggests that common variants of the EDA gene are associated with non-syndromic hypodontia in Europeans. On the other hand, no association between hypodontia and any of the SNPs of PAX9, MSX1 and AXIN2 genes was found.…”

Section: Re Sultsmentioning

confidence: 54%

“…33 Rare variants of PAX9 were reported to be associated with molar agenesis; 31 since then, several studies have identified either rare or common variants of PAX9 in different populations, especially in relation to the agenesis of maxillary lateral incisors. 10,17,23,34,35 Using a relatively large sample of unrelated individuals, a higher proportion of the A-allele of the rs2073242 SNP was found in cases than in controls, but the difference was not statistically significant. While other studies have not investigated this particular SNP, noteworthy differences in genotype frequencies for other SNPs (rs2073246 and rs2073244) have been reported between controls and patients with tooth agenesis.…”

Section: Discussionmentioning

confidence: 88%

“…While other studies have not investigated this particular SNP, noteworthy differences in genotype frequencies for other SNPs (rs2073246 and rs2073244) have been reported between controls and patients with tooth agenesis. 23,24 These common variants are in high LD with rs2073242, 23 suggesting that PAX9 polymorphisms may play a role in non-syndromic hypodontia.…”

Section: Discussionmentioning

confidence: 99%

“…13,[20][21][22] Several studies have shown that specific nucleotide changes in genes associated with tooth agenesis present not only as rare variants, but also common variants (also known as single nucleotide polymorphisms-SNPs), and this may represent a low-to-moderate risk for hypodontia. 19,23,24 A replication study would therefore add to the current literature and support our understanding of the genetic basis of non-syndromic hypodontia.…”

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confidence: 86%

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Common variants of EDA are associated with non‐syndromic hypodontia

Al-Ani

Antoun

Thomson

et al. 2020

Orthod Craniofacial Res

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ObjectiveThe aim of this case‐control study was to investigate the association between non‐syndromic hypodontia and nineteen common variants of candidate genes ectodysplasin A (EDA), paired box 9 (PAX9), msh homeobox 1 (MSX1) and axis inhibition protein 2 (AXIN2).Settings and Sample PopulationSixty‐one hypodontia cases were frequency‐matched to 253 controls with no missing teeth (excluding the third molars).Material and MethodsSelf‐report data and DNA samples were collected from each participant.ResultsThe sample had a mean age of 16.6 years (SD = 7.3), with most participants being female (59.6%), and of New Zealand European origin (75.4%). Using multiple logistic regression analysis, it was found that the T‐allele of rs12853659 (EDA) and the G‐allele of rs2428151 (EDA) were both associated with a higher risk of hypodontia (odds ratio, OR = 2.79, 95% CI = 1.11‐7.01; and OR = 2.87, 95% CI = 1.04‐7.94, respectively). The G‐allele of rs2520378 (EDA) showed a protective effect with an OR of 0.61 (95% CI = 0.38‐0.99). The EDA SNP findings were consistent with previous reports included in a meta‐analysis. No associations were found with the PAX9, AXIN2 and MSX1 genes, after adjusting for sex and ethnicity.ConclusionsCommon variants of the EDA genes are associated with specific phenotypes of non‐syndromic hypodontia, thus confirming their role in the regulatory pathways of normal tooth development. However, larger samples are needed to investigate the association further.

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A Host of Other Dental Diseases and Disorders

Nelson¹

2015

A Companion to Dental Anthropology

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Complex analysis of multiple single nucleotide polymorphisms as putative risk factors of tooth agenesis in the Hungarian population

Cited by 5 publications

References 68 publications

PAX9 gene mutations and tooth agenesis: A review

PAX9 gene mutations and tooth agenesis: A review

Common variants of EDA are associated with non‐syndromic hypodontia

A Host of Other Dental Diseases and Disorders

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