Menu
GWAS Study

Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa.

Huckins LM, Hatzikotoulas K, Southam L et al.

29155802 PubMed ID
GWAS Study Type
22675 Participants
Scroll to explore
Chapter I

Publication Details

Comprehensive information about this research publication

Authors

HL
Huckins LM
HK
Hatzikotoulas K
SL
Southam L
TL
Thornton LM
SJ
Steinberg J
AF
Aguilera-McKay F
TJ
Treasure J
SU
Schmidt U
GC
Gunasinghe C
RA
Romero A
CC
Curtis C
RD
Rhodes D
MJ
Moens J
KG
Kalsi G
DD
Dempster D
LR
Leung R
KA
Keohane A
BR
Burghardt R
ES
Ehrlich S
HJ
Hebebrand J
HA
Hinney A
LA
Ludolph A
WE
Walton E
DP
Deloukas P
HA
Hofman A
PA
Palotie A
PP
Palta P
VR
van Rooij FJA
SK
Stirrups K
AR
Adan R
BC
Boni C
CR
Cone R
DG
Dedoussis G
VF
van Furth E
GF
Gonidakis F
GP
Gorwood P
HJ
Hudson J
KJ
Kaprio J
KM
Kas M
KA
Keski-Rahkonen A
KK
Kiezebrink K
KG
Knudsen GP
S'
Slof-Op 't Landt MCT
MM
Maj M
MA
Monteleone AM
MP
Monteleone P
RA
Raevuori AH
RT
Reichborn-Kjennerud T
TF
Tozzi F
TA
Tsitsika A
VE
van Elburg A
CD
Collier DA
SP
Sullivan PF
BG
Breen G
BC
Bulik CM
ZE
Zeggini E
Chapter II

Abstract

Summary of the research findings

Anorexia nervosa (AN) is a complex neuropsychiatric disorder presenting with dangerously low body weight, and a deep and persistent fear of gaining weight. To date, only one genome-wide significant locus associated with AN has been identified. We performed an exome-chip based genome-wide association studies (GWAS) in 2158 cases from nine populations of European origin and 15 485 ancestrally matched controls. Unlike previous studies, this GWAS also probed association in low-frequency and rare variants. Sixteen independent variants were taken forward for in silico and de novo replication (11 common and 5 rare). No findings reached genome-wide significance. Two notable common variants were identified: rs10791286, an intronic variant in OPCML (P=9.89 × 10-6), and rs7700147, an intergenic variant (P=2.93 × 10-5). No low-frequency variant associations were identified at genome-wide significance, although the study was well-powered to detect low-frequency variants with large effect sizes, suggesting that there may be no AN loci in this genomic search space with large effect sizes.

2,158 European ancestry female cases, 15 ,485 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

22675
Total Participants
GWAS
Study Type
Yes
Replicated
1,299 European ancestry cases, 3,733 European ancestry controls
Replication Participants
European
Ancestry
Finland, France, Germany, Greece, Italy, Netherlands, Norway, U.K., U.S.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

Important Disclaimer: This review has been performed semi-automatically and is provided for informational purposes only. While we strive for accuracy, this analysis may contain errors, omissions, or misinterpretations of the original research. DNA Genics disclaims all liability for any inaccuracies, errors, or consequences arising from the use of this information. Users should independently verify all information and consult original research publications before making any decisions based on this content. This analysis is not intended as a substitute for professional scientific review or medical advice.

Analysis In Progress

Our analysis of this publication is currently being prepared. Please check back soon for comprehensive insights into the health and genetic findings discussed in this research.