PMID- 21228692
OWN - NLM
STAT- MEDLINE
DCOM- 20110506
LR  - 20110113
IS  - 1528-1159 (Electronic)
IS  - 0362-2436 (Linking)
VI  - 36
IP  - 2
DP  - 2011 Jan 15
TI  - Association study of BMP4, IL6, Leptin, MMP3, and MTNR1B gene promoter 
      polymorphisms and adolescent idiopathic scoliosis.
PG  - E123-30
LID - 10.1097/BRS.0b013e318a511b0e [doi]
AB  - STUDY DESIGN: a genetic association study was performed on 126 patients with 
      adolescent idiopathic scoliosis and 197 healthy controls from independent 
      Hungarian pedigrees. OBJECTIVE: to reveal implication of promoter polymorphisms 
      of bone morphogenetic protein 4 (BMP4), interleukin-6 (IL6), leptin, matrix 
      metalloproteinase-3 (MMP3), melatonin 1B receptor (MTNR1B) genes in adolescent 
      idiopathic scoliosis (AIS). Combinatorial association of these candidate genes 
      was also studied to detect additive effect of certain single-nucleotide 
      polymorphism (SNP) patterns. SUMMARY OF BACKGROUND DATA: it was previously 
      unraveled that IL6, MMP3, and MTNR1B genes could be considered as predisposition 
      genes of AIS. Since BMP4 and leptin play a central role in bone formation and 
      remodeling and are in direct interaction with melatonin, IL6, and MMP3, these 
      also can be potential predisposition genes. METHODS: the genotyping was 
      determined by polymerase chain reaction-restriction fragment length polymorphism. 
      RESULTS: at a single gene level, no significant differences were found for allele 
      and genotype frequencies of the polymorphisms of these genes between cases or 
      controls; therefore, the formerly detected association of IL6, MMP3, and MTNR1B 
      with AIS was not confirmed in the Hungarian population by independent SNP 
      analysis. However, significantly increased AIS risk was observed at particular 
      combinations of genotypes of paired SNPs of the candidate genes. CONCLUSIONS: the 
      genetic effect of promoter polymorphisms of BMP4, IL6, leptin, MMP3, and MTNR1B 
      can be synergistic for susceptibility to AIS. The combinatorial effect can 
      modulate the final biological impact of many susceptibility polymorphisms; 
      therefore, this should be considered at the comparison of results from 
      case-control studies of different populations.
FAU - Morocz, Monika
AU  - Morocz M
AD  - Institute of Genetics, Biological Research Center, Hungarian Academy of Sciences, 
      Temesvari Korut 62, H-6726, Szeged, Hungary. morocz@brc.hu
FAU - Czibula, Agnes
AU  - Czibula A
FAU - Grozer, Zsuzsanna B
AU  - Grozer ZB
FAU - Szecsenyi, Anita
AU  - Szecsenyi A
FAU - Almos, Peter Z
AU  - Almos PZ
FAU - Rasko, Istvan
AU  - Rasko I
FAU - Illes, Tamas
AU  - Illes T
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Spine (Phila Pa 1976)
JT  - Spine
JID - 7610646
RN  - 0 (BMP4 protein, human)
RN  - 0 (Bone Morphogenetic Protein 4)
RN  - 0 (Interleukin-6)
RN  - 0 (Leptin)
RN  - 0 (Receptor, Melatonin, MT2)
RN  - EC 3.4.24.17 (MMP3 protein, human)
RN  - EC 3.4.24.17 (Matrix Metalloproteinase 3)
SB  - IM
MH  - Adolescent
MH  - Bone Morphogenetic Protein 4/*genetics
MH  - Female
MH  - Gene Frequency
MH  - Gene Regulatory Networks
MH  - Genetic Predisposition to Disease
MH  - Genotype
MH  - Humans
MH  - Interleukin-6/*genetics
MH  - Leptin/*genetics
MH  - Male
MH  - Matrix Metalloproteinase 3/*genetics
MH  - Models, Genetic
MH  - *Polymorphism, Single Nucleotide
MH  - Promoter Regions, Genetic/genetics
MH  - Receptor, Melatonin, MT2/*genetics
MH  - Scoliosis/*genetics
MH  - Young Adult
EDAT- 2011/01/14 06:00
MHDA- 2011/05/07 06:00
CRDT- 2011/01/14 06:00
PHST- 2011/01/14 06:00 [entrez]
PHST- 2011/01/14 06:00 [pubmed]
PHST- 2011/05/07 06:00 [medline]
AID - 00007632-201101150-00020 [pii]
AID - 10.1097/BRS.0b013e318a511b0e [doi]
PST - ppublish
SO  - Spine (Phila Pa 1976). 2011 Jan 15;36(2):E123-30. doi: 
      10.1097/BRS.0b013e318a511b0e.