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GWAS Study

SCGB1D2 inhibits growth of Borrelia burgdorferi and affects susceptibility to Lyme disease.

Strausz S, Abner E, Blacker G et al.

38503741 PubMed ID
GWAS Study Type
617731 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

SS
Strausz S
AE
Abner E
BG
Blacker G
GS
Galloway S
HP
Hansen P
FQ
Feng Q
LB
Lee BT
JS
Jones SE
HH
Haapaniemi H
RS
Raak S
NG
Nahass GR
SE
Sanders E
SP
Soodla P
VU
Võsa U
ET
Esko T
SN
Sinnott-Armstrong N
WI
Weissman IL
DM
Daly M
AT
Aivelo T
TM
Tal MC
OH
Ollila HM
Chapter II

Abstract

Summary of the research findings

Lyme disease is a tick-borne disease caused by bacteria of the genus Borrelia. The host factors that modulate susceptibility for Lyme disease have remained mostly unknown. Using epidemiological and genetic data from FinnGen and Estonian Biobank, we identify two previously known variants and an unknown common missense variant at the gene encoding for Secretoglobin family 1D member 2 (SCGB1D2) protein that increases the susceptibility for Lyme disease. Using live Borrelia burgdorferi (Bb) we find that recombinant reference SCGB1D2 protein inhibits the growth of Bb in vitro more efficiently than the recombinant protein with SCGB1D2 P53L deleterious missense variant. Finally, using an in vivo murine infection model we show that recombinant SCGB1D2 prevents infection by Borrelia in vivo. Together, these data suggest that SCGB1D2 is a host defense factor present in the skin, sweat, and other secretions which protects against Bb infection and opens an exciting therapeutic avenue for Lyme disease.

25,355 European ancestry cases, 592,376 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

617731
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
Finland, Estonia
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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Analysis In Progress

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