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Functional polymorphisms in asporin and CILP together with joint loading predispose to hand osteoarthritis.

Abstract Osteoarthritis (OA) is the most common degenerative joint disease afflicting people in the Western world and has a strong genetic influence. The aim of this study was to examine the association of two known functional polymorphisms in the TGF-β inhibiting genes, asporin (ASPN) and cartilage intermediate layer protein (CILP), with hand OA and potential gene-occupational hand loading interaction.
PMID
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Authors

Mayor MeshTerms

Genetic Predisposition to Disease

Keywords

Asporin

Cartilage intermediate layer protein

Functional variant

Genetic association

Osteoarthritis

Journal Title bmc genetics
Publication Year Start




PMID- 29233086
OWN - NLM
STAT- MEDLINE
DCOM- 20180118
LR  - 20180118
IS  - 1471-2156 (Electronic)
IS  - 1471-2156 (Linking)
VI  - 18
IP  - 1
DP  - 2017 Dec 12
TI  - Functional polymorphisms in asporin and CILP together with joint loading
      predispose to hand osteoarthritis.
PG  - 108
LID - 10.1186/s12863-017-0585-4 [doi]
AB  - BACKGROUND: Osteoarthritis (OA) is the most common degenerative joint disease
      afflicting people in the Western world and has a strong genetic influence. The
      aim of this study was to examine the association of two known functional
      polymorphisms in the TGF-beta inhibiting genes, asporin (ASPN) and cartilage
      intermediate layer protein (CILP), with hand OA and potential gene-occupational
      hand loading interaction. RESULTS: Statistically significant interaction of the
      CILP rs2073711 T and ASPN D15 alleles with hand OA was observed (OR = 2.48, 95%
      CI 1.27-4.85, p = 0.008) in a Finnish hand OA cohort of 543 women (aged 45-63).
      When stratified by variation in working tasks, low variation of working tasks
      increased the risk further (OR = 3.00, 95% CI 1.35-6.66, p = 0.007). Based on the
      analysis of ASPN and CILP protein-coding regions, functional studies were
      performed with one observed variant, rs41278695 in the ASPN gene. Analyses showed
      that bone morphogenetic protein 2 (BMP2) mediated expression of aggrecan (Agc1)
      and type II collagen (Col2a1) was significantly suppressed (p = 0.011 and p =
      0.023, respectively) in a murine chondrocytic cell line (ATDC5) with cells stably
      expressing ASPN rs41278695. CONCLUSIONS: The carriage of either ASPN D15 or CILP 
      rs2073711 TT is associated with increased risk of symmetrical hand OA,
      particularly in individuals with low variation in work tasks. ASPN rs41278695 SNP
      had an effect on Agc1 and Col2a1 gene expression when induced with BMP-2
      suggesting an effect on the cartilage extracellular matrix composition.
FAU - Taipale, Mari
AU  - Taipale M
AD  - Center for Life Course Health Research, Faculty of Medicine, University of Oulu, 
      Aapistie 5, 90220, Oulu, Finland.
AD  - Biocenter Oulu and Faculty of Faculty of Biochemistry and Molecular Medicine,
      University of Oulu, Oulu, Finland.
FAU - Solovieva, Svetlana
AU  - Solovieva S
AD  - Department of Epidemiology and Biostatistics, Centre of Expertise for Health and 
      Work Ability, Finnish Institute of Occupational Health, Helsinki, Finland.
FAU - Leino-Arjas, Paivi
AU  - Leino-Arjas P
AD  - Department of Epidemiology and Biostatistics, Centre of Expertise for Health and 
      Work Ability, Finnish Institute of Occupational Health, Helsinki, Finland.
FAU - Mannikko, Minna
AU  - Mannikko M
AUID- ORCID: http://orcid.org/0000-0002-6857-6423
AD  - Center for Life Course Health Research, Faculty of Medicine, University of Oulu, 
      Aapistie 5, 90220, Oulu, Finland. [email protected]
AD  - Biocenter Oulu and Faculty of Faculty of Biochemistry and Molecular Medicine,
      University of Oulu, Oulu, Finland. [email protected]
LA  - eng
PT  - Journal Article
PT  - Randomized Controlled Trial
DEP - 20171212
PL  - England
TA  - BMC Genet
JT  - BMC genetics
JID - 100966978
RN  - 0 (ASPN protein, human)
RN  - 0 (Aggrecans)
RN  - 0 (Collagen Type II)
RN  - 0 (Extracellular Matrix Proteins)
RN  - EC 3.6.1.- (CILP protein, human)
RN  - EC 3.6.1.- (Pyrophosphatases)
SB  - IM
MH  - Aggrecans/metabolism
MH  - Animals
MH  - Cells, Cultured
MH  - Chondrocytes/cytology/metabolism
MH  - Cohort Studies
MH  - Collagen Type II/metabolism
MH  - Extracellular Matrix Proteins/*genetics
MH  - Female
MH  - *Genetic Predisposition to Disease
MH  - Hand Joints/*physiopathology
MH  - Humans
MH  - Mice
MH  - Middle Aged
MH  - Occupational Diseases/*genetics/pathology
MH  - Osteoarthritis/*genetics/pathology
MH  - Polymorphism, Genetic
MH  - Pyrophosphatases/*genetics
PMC - PMC5727665
OTO - NOTNLM
OT  - Asporin
OT  - Cartilage intermediate layer protein
OT  - Functional variant
OT  - Genetic association
OT  - Osteoarthritis
EDAT- 2017/12/14 06:00
MHDA- 2018/01/19 06:00
CRDT- 2017/12/14 06:00
PHST- 2017/01/24 00:00 [received]
PHST- 2017/12/07 00:00 [accepted]
PHST- 2017/12/14 06:00 [entrez]
PHST- 2017/12/14 06:00 [pubmed]
PHST- 2018/01/19 06:00 [medline]
AID - 10.1186/s12863-017-0585-4 [doi]
AID - 10.1186/s12863-017-0585-4 [pii]
PST - epublish
SO  - BMC Genet. 2017 Dec 12;18(1):108. doi: 10.1186/s12863-017-0585-4.