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Common variants of EDA are associated with non‐syndromic hypodontia
Author(s) -
AlAni Azza H.,
Antoun Joseph S.,
Thomson William M.,
Topless Ruth,
Merriman Tony R.,
Farella Mauro
Publication year - 2021
Publication title -
orthodontics and craniofacial research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.664
H-Index - 55
eISSN - 1601-6343
pISSN - 1601-6335
DOI - 10.1111/ocr.12419
Subject(s) - hypodontia , oligodontia , axin2 , anodontia , odds ratio , allele , genetics , medicine , case control study , single nucleotide polymorphism , biology , dentistry , genotype , gene , wnt signaling pathway
Objective The 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 Population Sixty‐one hypodontia cases were frequency‐matched to 253 controls with no missing teeth (excluding the third molars). Material and Methods Self‐report data and DNA samples were collected from each participant. Results The 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. Conclusions Common 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.