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GWAS Study

Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.

Pillas D, Hoggart CJ, Evans DM et al.

20195514 PubMed ID
GWAS Study Type
5752 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

PD
Pillas D
HC
Hoggart CJ
ED
Evans DM
OP
O'Reilly PF
SK
Sipilä K
LR
Lähdesmäki R
MI
Millwood IY
KM
Kaakinen M
NG
Netuveli G
BD
Blane D
CP
Charoen P
SU
Sovio U
PA
Pouta A
FN
Freimer N
HA
Hartikainen AL
LJ
Laitinen J
VS
Vaara S
GB
Glaser B
CP
Crawford P
TN
Timpson NJ
RS
Ring SM
DG
Deng G
ZW
Zhang W
MM
McCarthy MI
DP
Deloukas P
PL
Peltonen L
EP
Elliott P
CL
Coin LJ
SG
Smith GD
JM
Jarvelin MR
Chapter II

Abstract

Summary of the research findings

Tooth development is a highly heritable process which relates to other growth and developmental processes, and which interacts with the development of the entire craniofacial complex. Abnormalities of tooth development are common, with tooth agenesis being the most common developmental anomaly in humans. We performed a genome-wide association study of time to first tooth eruption and number of teeth at one year in 4,564 individuals from the 1966 Northern Finland Birth Cohort (NFBC1966) and 1,518 individuals from the Avon Longitudinal Study of Parents and Children (ALSPAC). We identified 5 loci at P<5x10(-8), and 5 with suggestive association (P<5x10(-6)). The loci included several genes with links to tooth and other organ development (KCNJ2, EDA, HOXB2, RAD51L1, IGF2BP1, HMGA2, MSRB3). Genes at four of the identified loci are implicated in the development of cancer. A variant within the HOXB gene cluster associated with occlusion defects requiring orthodontic treatment by age 31 years.

5,752 European ancestry related individuals

Chapter III

Study Statistics

Key metrics and study information

5752
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
Finland, U.K.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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