RGD Reference Report - T allele at site 6007 of bone morphogenetic protein-4 gene increases genetic susceptibility to ossification of the posterior longitudinal ligament in male Chinese Han population.

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T allele at site 6007 of bone morphogenetic protein-4 gene increases genetic susceptibility to ossification of the posterior longitudinal ligament in male Chinese Han population.
Authors:	Meng, XL Wang, H Yang, H Hai, Y Tian, BP Lin, X
Citation:	Meng XL, etal., Chin Med J (Engl). 2010 Sep;123(18):2537-42.
RGD ID:	9068398
Pubmed:	PMID:21034624 (View Abstract at PubMed)
BACKGROUND: Several candidate genes of ossification of the posterior longitudinal ligament (OPLL) susceptibility have been identified, but their polymorphisms account for only a small percent of the total variance. Bone morphogenetic protein-4 (BMP4) is a potent ectopic ossification inducing factor. BMP4 protein and mRNA are present in cells from OPLL patients, but not non-OPLL controls. A single nucleotide polymorphism of 6007C>T(rs17563) of BMP4 has been reported to affect bone density in postmenopausal women. Thus, BMP4 may function in OPLL development. Appropriately, the relationship between BMP4 polymorphisms and OPLL was investigated. METHODS: A case-control association study investigated the genetic etiology in 179 OPLL patients and 298 non-OPLL controls. Extent of OPLL was analyzed by radiologic examinations. Whether single nucleotide polymorphism (SNP) of -5826G>A(rs1957860) 5' of the transcription start site and 6007C>T(rs17563) in exon 4 of the BMP4 gene were statistically associated with genetic susceptibility to OPLL in Chinese Han subjects was assessed. RESULTS: A significant statistical difference in genotype of 6007C>T polymorphism between male OPLL patients and male controls was evident, and the frequency of "TT" genotype in male OPLL patients was significantly higher than in male controls (P = 0.039). The frequency of the "T" allele was also significantly higher in male OPLL subjects than in male controls (P = 0.014, OR = 1.57). A significant difference was also observed between the 6007C>T polymorphism and the number of ossified cervical vertebrae in OPLL patients, while no statistical difference was apparent between the -5826G>A polymorphism and OPLL occurrence. CONCLUSIONS: The T allele in the 6007C>T polymorphism may be a risk factor for male Han Chinese with ossification of the posterior longitudinal ligament in the cervical spine. Chinese Han male patients with CT and TT 6007C>T genotypes have a genetic susceptibility to OPLL and more extensive OPLL in the cervical spine.

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Object Symbol	Species	Term	Qualifier	Evidence	With	Notes	Source	Original Reference(s)
BMP4	Human	ossification of the posterior longitudinal ligament of spine	susceptibility	IAGP		DNA:polymorphism:exon:6007C>T(rs17563)(human)	RGD
Bmp4	Rat	ossification of the posterior longitudinal ligament of spine	susceptibility	ISO	BMP4 (Homo sapiens)	DNA:polymorphism:exon:6007C>T(rs17563)(human)	RGD
Bmp4	Mouse	ossification of the posterior longitudinal ligament of spine	susceptibility	ISO	BMP4 (Homo sapiens)	DNA:polymorphism:exon:6007C>T(rs17563)(human)	RGD

Objects Annotated

Genes (Rattus norvegicus)

Bmp4 (bone morphogenetic protein 4)

Genes (Mus musculus)

Bmp4 (bone morphogenetic protein 4)

Genes (Homo sapiens)

BMP4 (bone morphogenetic protein 4)

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T allele at site 6007 of bone morphogenetic protein-4 gene increases genetic susceptibility to ossification of the posterior longitudinal ligament in male Chinese Han population.