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Studies of palatine rugae and interferon regulatory factor 6 variations in a group of families with sporadic hypodontia.

Murdoch, AM and Patir, A and Seymen, F and Vieira, AR (2009) Studies of palatine rugae and interferon regulatory factor 6 variations in a group of families with sporadic hypodontia. Journal of oral science, 51 (4). 521 - 526.

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Irf6 (interferon regulatory factor 6) is expressed in tooth buds and palatine rugae during development in the mouse. Here we report the first study to investigate whether IRF6 variation is associated with palatine rugae patterns in a population with sporadic tooth agenesis. Fifty-two individuals with sporadic tooth agenesis and their parents were studied. Palatine rugae were scored from casts available for a subset of 38 families. DNA samples were obtained from whole blood or saliva samples. Genotyping was performed using TaqMan assays. Linkage disequilibrium and transmission distortion analyses of the marker alleles were performed. Borderline results were obtained for IRF6 genetic variation and having primary rugae larger on the right side than on the left (rs20131633, P = 0.07; rs642961, P = 0.06) and having fewer than eight primary palatine rugae (rs20131623, P = 0.07). However, no specific pattern of tooth agenesis was associated with the palatine rugae patterns studied. Our data suggest that IRF6 may contribute to specific palatine rugae patterns in humans.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Murdoch, AM
Patir, A
Seymen, F
Vieira, ARarv11@pitt.eduARV11
Date: 1 January 2009
Date Type: Publication
Journal or Publication Title: Journal of oral science
Volume: 51
Number: 4
Page Range: 521 - 526
DOI or Unique Handle: 10.2334/josnusd.51.521
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
MeSH Headings: Anodontia--genetics; Female; Gene Expression; Genetic Variation; Humans; Interferon Regulatory Factors--biosynthesis; Interferon Regulatory Factors--genetics; Linkage Disequilibrium; Male; Palate, Hard--anatomy & histology; Polymorphism, Single Nucleotide
PubMed ID: 20032603
Date Deposited: 20 Sep 2012 20:24
Last Modified: 04 Oct 2022 19:03


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