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[Association between AXIN2 polymorphism and oligodontia].

Singwai Wong1, Hao-chen Liu1, Yue Li1

  • 1Department of Prosthodontics, Peking University School and Hospital of Stomatology, Beijing 100081, China.

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|April 19, 2014
PubMed
Summary
This summary is machine-generated.

Genetic variations in AXIN2, specifically rs145353986, are associated with non-syndromic oligodontia (tooth agenesis) in the Chinese population. This finding suggests AXIN2 may serve as a genetic marker for predicting the risk of developing this condition.

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Area of Science:

  • Genetics
  • Dental Anthropology
  • Molecular Biology

Background:

  • Oligodontia, characterized by the congenital absence of six or more teeth, is a complex developmental anomaly.
  • Non-syndromic oligodontia lacks associated systemic abnormalities, suggesting a primary genetic basis.
  • The AXIN2 gene plays a role in Wnt/beta-catenin signaling, crucial for tooth development.

Purpose of the Study:

  • To investigate the association between AXIN2 gene polymorphisms and sporadic non-syndromic oligodontia.
  • To determine if specific variants of AXIN2 are risk factors for tooth agenesis in the Chinese population.

Main Methods:

  • Case-control study involving 97 individuals with non-syndromic oligodontia and 200 healthy controls from the Chinese population.
  • Genomic DNA extraction from whole blood or buccal swab samples.
  • Genotyping of the AXIN2 rs145353986 polymorphism using polymerase chain reaction (PCR).

Main Results:

  • Significant differences in allele and genotype frequencies of the AXIN2 rs145353986 polymorphism were observed between oligodontia cases and controls.
  • The GG, GC, and CC genotype distributions for rs145353986 differed significantly (P = 0.011).
  • A higher frequency of the C allele was found in the oligodontia group (P = 0.002), indicating a potential risk association.

Conclusions:

  • The AXIN2 rs145353986 polymorphism is significantly associated with non-syndromic oligodontia in the Chinese population.
  • AXIN2 gene variants may contribute to the etiology of tooth agenesis.
  • AXIN2 can be considered a potential genetic marker for assessing the risk of tooth agenesis.