PMID- 30288688
OWN - NLM
STAT- MEDLINE
DCOM- 20190125
LR  - 20190125
IS  - 1559-1166 (Electronic)
IS  - 0895-8696 (Linking)
VI  - 66
IP  - 3
DP  - 2018 Nov
TI  - Association of CILP, COL9A2 and MMP3 Gene Polymorphisms with Lumbar Disc 
      Degeneration in an Indian Population.
PG  - 378-382
LID - 10.1007/s12031-018-1182-3 [doi]
AB  - Lumbar disc degeneration (LDD) is a multifactorial disorder caused by genetic and 
      environmental factors. Polymorphisms in several structural and inflammatory genes 
      like collagens, aggrecan, matrix metalloproteinases are associated with the risk 
      of disc degeneration. In this study, we analyzed the role of a few important 
      single nucleotide polymorphisms in cartilage intermediate layer protein (CILP), 
      collagen 9A2 (COL9A2) and matrix metalloproteinase 3 (MMP3) genes in LDD from an 
      Indian population. Two hundred patients with LDD and 200 healthy controls were 
      recruited for the study. Genotyping was performed by allelic discrimination 
      assay. The rs2073711 polymorphism (CILP gene - GG genotype) was associated with 
      reduced risk of LDD in the Indian population (OR = 0.43, p = 0.016). The rs591058 
      polymorphism (MMP3 gene - TT genotype) is found to be associated with lower risk 
      among women (OR = 0.34, p = 0.041). No significant association was found between 
      COL9A2 polymorphism rs7533552 and the risk of LDD. We conclude that the CILP gene 
      polymorphism (rs2073711) is associated with a lower risk of LDD, the MMP3 
      (rs591058) gene polymorphism is associated with LDD among women, and the TT 
      genotype confers a lower risk of LDD.
FAU - S M, Harshitha
AU  - S M H
AD  - Department of Human Genetics, National Institute of Mental Health and 
      Neurosciences (NIMHANS), Bangalore, 560029, India.
FAU - M K, Sibin
AU  - M K S
AD  - Armed Forces Medical College, Pune, 411040, India.
FAU - G K, Chetan
AU  - G K C
AD  - Department of Human Genetics, National Institute of Mental Health and 
      Neurosciences (NIMHANS), Bangalore, 560029, India.
FAU - I Bhat, Dhananjaya
AU  - I Bhat D
AUID- ORCID: 0000-0001-8595-8311
AD  - Department of Neurosurgery, National Institute of Mental Health and Neurosciences 
      (NIMHANS), Bangalore, 560029, India. dibhat@rediffmail.com.
LA  - eng
GR  - EMR/2014/000614/Science and Engineering Research Board/
PT  - Journal Article
DEP - 20181004
PL  - United States
TA  - J Mol Neurosci
JT  - Journal of molecular neuroscience : MN
JID - 9002991
RN  - 0 (COL9A2 protein, human)
RN  - 0 (Collagen Type IX)
RN  - 0 (Extracellular Matrix Proteins)
RN  - EC 3.4.24.17 (MMP3 protein, human)
RN  - EC 3.4.24.17 (Matrix Metalloproteinase 3)
RN  - EC 3.6.1.- (CILP protein, human)
RN  - EC 3.6.1.- (Pyrophosphatases)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Collagen Type IX/*genetics
MH  - Extracellular Matrix Proteins/*genetics
MH  - Female
MH  - Humans
MH  - India
MH  - Intervertebral Disc Degeneration/*genetics
MH  - Lumbar Vertebrae/pathology
MH  - Male
MH  - Matrix Metalloproteinase 3/*genetics
MH  - Middle Aged
MH  - *Polymorphism, Single Nucleotide
MH  - Pyrophosphatases/*genetics
OTO - NOTNLM
OT  - CILP
OT  - COL9A2
OT  - Indian population
OT  - Lumbar disc degeneration (LDD)
OT  - MMP3
OT  - Polymorphism
EDAT- 2018/10/06 06:00
MHDA- 2019/01/27 06:00
CRDT- 2018/10/06 06:00
PHST- 2018/07/24 00:00 [received]
PHST- 2018/09/24 00:00 [accepted]
PHST- 2018/10/06 06:00 [pubmed]
PHST- 2019/01/27 06:00 [medline]
PHST- 2018/10/06 06:00 [entrez]
AID - 10.1007/s12031-018-1182-3 [pii]
AID - 10.1007/s12031-018-1182-3 [doi]
PST - ppublish
SO  - J Mol Neurosci. 2018 Nov;66(3):378-382. doi: 10.1007/s12031-018-1182-3. Epub 2018 
      Oct 4.