The Journal of Hand Surgery - European Volume - April 2018 - 1

BSSH Spring meeting abstracts
Journal of Hand Surgery
(European Volume)
2018, Vol. 43(Supplement 1) S1-S16
! The Author(s) 2018
Reprints and permissions:
sagepub.com/journalsPermissions.nav
DOI: 10.1177/1753193418767513
journals.sagepub.com/home/jhs

A Genome-Wide Association Study of Carpal Tunnel
Syndrome Reveals 13 Novel Susceptibility Loci
Mr Akira Wiberg, Mr Michael Ng,
Professor Annina Schmid, Dr Georgios Baskozos,
Professor David Bennett and Professor Dominic Furniss
NDORMS, University of Oxford
Time in programme: Thursday 3rd May 2018 09:05

Aim: Carpal tunnel syndrome (CTS) is a complex disease, whereby genetic and non-genetic factors interact to affect overall phenotypic expression. Little is
known about the genetic contribution to CTS, and our
aim was to discover genetic variants that confer risk
to CTS.
Methods: We undertook the first ever genome-wide
association study (GWAS) in subjects with CTS using
the UK Biobank resource, a prospective cohort study
of $500,000 who have had whole-genome genotyping
undertaken. After quality control, we defined 12,106
participants of white British ancestry with at least
one diagnostic code for CTS as our cases, and used
the remaining 387,347 white British participants as
controls.
Results: We discovered genome-wide significant
associations (p 5Â10À8) at 13 loci across the
genome. Of the top three associated variants,
rs72755233 (p ¼ 9.1 Â 10À15) is a missense variant in
ADAMTS17, rs62621197 (p ¼ 1.0 Â 10À13) is a missense variant in ADAMTS10, and rs3791679
(p ¼ 3.8 Â 10À13) is in an enhancer region in an intron
of EFEMP1. All three genes are important in extracellular matrix modulation, and we demonstrated
expression of these genes in surgically resected tenosynovium from CTS patients. rs72755233, rs62621197
and rs3791679 have been reported in previous
GWAS to be associated with human height, and we
found that on average, UK Biobank CTS patients are
>2 cm shorter than controls.
Conclusion: This study provides novel insights into
the biology of CTS. Our findings support the hypothesis that the genetic susceptibility to CTS may arise
from aberrant connective tissue architecture or from
altered musculoskeletal growth and development,

rather than from rendering peripheral nerves intrinsically more vulnerable to increased pressures.

Long-Term Satisfaction Following Syndactyly
Correction is Independent of the use of Skin Grafts
Miss Bien Ferrari and Professor Paul M N Werker
University Medical Centre Groningen
Time in programme: Thursday 3rd May 2018 09:12

Aims: Graft-less techniques for syndactyly correction
are advocated because of graft-related complications
and donor site morbidity. The purpose of this cross
sectional study was to compare division with and
without skin grafts on complications, long-term
results, scar quality and patient satisfaction, to find
out if grafting concerns patients too.
Methods: Fifty-five patients (94 webs) with a median
follow-up of 10.8 years (IQR:5.2-15.8) were included
in this retrospective analysis. Data were extracted
from medical files and operation notes. Twentyseven patients (49 webs) were willing to participate
in clinical follow-up. The Patient and Observer Scar
Assessment Scale (POSAS), Withey score for postoperative success and a patient satisfaction survey
were used outcome measures.
Results: Hypertrophic scarring (p ¼ 0.044) occurred
significantly more often in the graft group. Web
creep, scar contracture and revision rates were
higher in the graft group. There were no significant
differences found in POSAS, Withey and satisfaction
scores. Observer scar scores differed 7.5 points in
favour of the graft-less group. The highest satisfaction score was given for digital function (median:8.7/
IQR:7.2-9.4) and worst for nail appearance after
synonychia separation (median:5.9/IQR:4.7-8.4).
Satisfaction with the donor site was high in the
graft group (median:8.5/IQR:7.3-9.5).
Conclusion: This study confirms that graft-less corrections should be preferred over skin grafts,
because it has a lower rate of unfavourable


https://us.sagepub.com/en-us/journals-permissions http://journals.sagepub.com/home/jhs

Table of Contents for the Digital Edition of The Journal of Hand Surgery - European Volume - April 2018

The Journal of Hand Surgery - European Volume - April 2018 - Cover1
The Journal of Hand Surgery - European Volume - April 2018 - Cover2
The Journal of Hand Surgery - European Volume - April 2018 - 1
The Journal of Hand Surgery - European Volume - April 2018 - 2
The Journal of Hand Surgery - European Volume - April 2018 - 3
The Journal of Hand Surgery - European Volume - April 2018 - 4
The Journal of Hand Surgery - European Volume - April 2018 - 5
The Journal of Hand Surgery - European Volume - April 2018 - 6
The Journal of Hand Surgery - European Volume - April 2018 - 7
The Journal of Hand Surgery - European Volume - April 2018 - 8
The Journal of Hand Surgery - European Volume - April 2018 - 9
The Journal of Hand Surgery - European Volume - April 2018 - 10
The Journal of Hand Surgery - European Volume - April 2018 - 11
The Journal of Hand Surgery - European Volume - April 2018 - 12
The Journal of Hand Surgery - European Volume - April 2018 - 13
The Journal of Hand Surgery - European Volume - April 2018 - 14
The Journal of Hand Surgery - European Volume - April 2018 - 15
The Journal of Hand Surgery - European Volume - April 2018 - 16
The Journal of Hand Surgery - European Volume - April 2018 - Cover3
https://www.nxtbookmedia.com