RGD Reference Report - Lack of association between adolescent idiopathic scoliosis and previously reported single nucleotide polymorphisms in MATN1, MTNR1B, TPH1, and IGF1 in a Japanese population. - Rat Genome Database

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Lack of association between adolescent idiopathic scoliosis and previously reported single nucleotide polymorphisms in MATN1, MTNR1B, TPH1, and IGF1 in a Japanese population.

Authors: Takahashi, Y  Matsumoto, M  Karasugi, T  Watanabe, K  Chiba, K  Kawakami, N  Tsuji, T  Uno, K  Suzuki, T  Ito, M  Sudo, H  Minami, S  Kotani, T  Kono, K  Yanagida, H  Taneichi, H  Takahashi, A  Toyama, Y  Ikegawa, S 
Citation: Takahashi Y, etal., J Orthop Res. 2011 Jul;29(7):1055-8. doi: 10.1002/jor.21347. Epub 2011 Feb 9.
RGD ID: 5686349
Pubmed: PMID:21308753   (View Abstract at PubMed)
DOI: DOI:10.1002/jor.21347   (Journal Full-text)

Adolescent idiopathic scoliosis (AIS) is a spinal deformity most commonly arising in apparently healthy girls around puberty. AIS has a strong genetic predisposition. Several genetic associations between AIS and single nucleotide polymorphisms (SNPs) have been reported; common SNPs in the genes for matrilin 1 (MATN1), melatonin receptor 1B (MTNR1B), tryptophan hydroxylase 1 (TPH1), and insulin-like growth factor 1 (IGF1) are reported to be associated with AIS in Chinese. However, these associations have not been replicated so far. To confirm the associations, we compared these SNPs with AIS predisposition and curve severity in a population of Japanese females consisting of 798 AIS patients and 1,239 controls. All the subjects were genotyped using the PCR-based Invader assay. We found no association of any of the SNPs with AIS predisposition or curve severity. Considering the statistical power and sample size of the present study, we concluded that these SNPs are not associated with either AIS predisposition or curve severity in Japanese.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
scoliosis no_associationIAGP 5686349DNA:SNP:promoter: (rs10488682) (human)RGD 
scoliosis no_associationISOTPH1 (Homo sapiens)5686349; 5686349DNA:SNP:promoter: (rs10488682) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Scoliosis no_associationIAGP 5686349DNA:SNP:promoter: (rs10488682)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Tph1  (tryptophan hydroxylase 1)

Genes (Mus musculus)
Tph1  (tryptophan hydroxylase 1)

Genes (Homo sapiens)
TPH1  (tryptophan hydroxylase 1)


Additional Information