association studies of the copy-number variable ?-defensin cluster on 8p23.1 in adenocarcinoma and chronic pancreatitis协会的研究人类基因组变量 -defensin集群p23.1 8日在腺癌和慢性胰腺炎.pdfVIP
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association studies of the copy-number variable ?-defensin cluster on 8p23.1 in adenocarcinoma and chronic pancreatitis协会的研究人类基因组变量 -defensin集群p23.1 8日在腺癌和慢性胰腺炎
Taudien et al. BMC Research Notes 2012, 5:629
/1756-0500/5/629
RESEARCH ARTICLE Open Access
Association studies of the copy-number variable
ß-defensin cluster on 8p23.1 in adenocarcinoma
and chronic pancreatitis
1*† 2† 3† 1 3 1 3
Stefan Taudien , Gabor Gäbel , Oliver Kuss , Marco Groth , Robert Grützmann , Klaus Huse , Alexander Kluttig ,
4 4,8 5 3,6 7 4
Andreas Wolf , Michael Nothnagel , Philip Rosenstiel , Karin Halina Greiser , Karl Werdan , Michael Krawczak ,
Christian Pilarsky2 and Matthias Platzer1
Abstract
Background: Human ß-defensins are a family of antimicrobial peptides located at the mucosal surface. Both
sequence multi-site variations (MSV) and copy-number variants (CNV) of the defensin-encoding genes are
associated with increased risk for various diseases, including cancer and inflammatory conditions such as psoriasis
and acute pancreatitis. In a case–control study, we investigated the association between MSV in DEFB104 as well as
defensin gene (DEF) cluster copy number (CN), and pancreatic ductal adenocarcinoma (PDAC) and chronic
pancreatitis (CP).
Results: Two groups of PDAC (N=70) and CP (N=60) patients were compared to matched healthy control groups
CARLA1 (N=232) and CARLA2 (N=160), respectively. Four DEFB104 MSV were haplotyped by PCR, cloning and
sequencing. DEF cluster CN was determined by multiplex ligation-dependent probe amplification.
Neither the PDAC nor the CP cohorts show significant differences in the DEFB104 haplotype distribution compared
to the respective control groups CARLA1 and CARLA2, respectively.
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