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GWAS Study

Rare and Common Variants Conferring Risk of Tooth Agenesis.

Jonsson L, Magnusson TE, Thordarson A et al.

29364747 PubMed ID
GWAS Study Type
349664 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

JL
Jonsson L
MT
Magnusson TE
TA
Thordarson A
JT
Jonsson T
GF
Geller F
FB
Feenstra B
MM
Melbye M
NE
Nohr EA
VS
Vucic S
DB
Dhamo B
RF
Rivadeneira F
OE
Ongkosuwito EM
WE
Wolvius EB
LE
Leslie EJ
MM
Marazita ML
HB
Howe BJ
MU
Moreno Uribe LM
AI
Alonso I
SM
Santos M
PT
Pinho T
JR
Jonsson R
AG
Audolfsson G
GL
Gudmundsson L
NM
Nawaz MS
OS
Olafsson S
GO
Gustafsson O
IA
Ingason A
UU
Unnsteinsdottir U
BG
Bjornsdottir G
WG
Walters GB
ZM
Zervas M
OA
Oddsson A
GD
Gudbjartsson DF
SS
Steinberg S
SH
Stefansson H
SK
Stefansson K
Chapter II

Abstract

Summary of the research findings

We present association results from a large genome-wide association study of tooth agenesis (TA) as well as selective TA, including 1,944 subjects with congenitally missing teeth, excluding third molars, and 338,554 controls, all of European ancestry. We also tested the association of previously identified risk variants, for timing of tooth eruption and orofacial clefts, with TA. We report associations between TA and 9 novel risk variants. Five of these variants associate with selective TA, including a variant conferring risk of orofacial clefts. These results contribute to a deeper understanding of the genetic architecture of tooth development and disease. The few variants previously associated with TA were uncovered through candidate gene studies guided by mouse knockouts. Knowing the etiology and clinical features of TA is important for planning oral rehabilitation that often involves an interdisciplinary approach.

1,944 Icelandic ancestry cases, 338,554 Icelandic ancestry controls (includes non-array genotyped, whole-genome imputed individuals)

Chapter III

Study Statistics

Key metrics and study information

349664
Total Participants
GWAS
Study Type
Yes
Replicated
151 European ancestry cases, 6,019 European ancestry controls, 150 European and other ancestry cases, 2,696 European and other ancestry controls
Replication Participants
NR, European, European
Ancestry
Netherlands, Iceland, Guatemala, U.S., Colombia, Argentina, Philippines, Hungary, Denmark, Portugal
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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Analysis In Progress

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