Active: Scoliosis Clear all

GWAS 2024-01-26

Association of genetic variation in <i>COL11A1</i> with adolescent idiopathic scoliosis.

Yu H, Khanshour AM et al.

Elife

Adolescent idiopathic scoliosis (AIS) is a common and progressive spinal deformity in children that ...

Adolescent idiopathic scoliosis

Replicated

103757

Participants

N/A

Studies

Details PubMed

GWAS 2021-06-22

Polygenic Risk Score of Adolescent Idiopathic Scoliosis for Potential Clinical Use.

Otomo N, Lu HF et al.

J Bone Miner Res

Adolescent idiopathic scoliosis (AIS) is a common disease causing three-dimensional spinal deformity...

Adolescent idiopathic scoliosis (Cobb angle)

4465

Participants

N/A

Studies

Details PubMed

GWAS 2019-08-15

Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese.

Kou I, Otomo N et al.

Nat Commun

Adolescent idiopathic scoliosis (AIS) is the most common pediatric spinal deformity. Several AIS sus...

Adolescent idiopathic scoliosis

79211

Participants

N/A

Studies

Details PubMed

GWAS 2018-11-01

Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.

Khanshour AM, Kou I et al.

Hum Mol Genet

Adolescent idiopathic scoliosis (AIS) is the most common musculoskeletal disorder of childhood devel...

Adolescent idiopathic scoliosis

Replicated

96415

Participants

N/A

Studies

Details PubMed

GWAS 2018-07-17

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

Liu J, Zhou Y et al.

Hum Genet

With the recent advance in genome-wide association studies (GWAS), disease-associated single nucleot...

Adolescent idiopathic scoliosis

499

Participants

N/A

Studies

Details PubMed

GWAS 2017-10-15

A functional variant in MIR4300HG, the host gene of microRNA MIR4300 is associated with progression of adolescent idiopathic scoliosis.

Ogura Y, Kou I et al.

Hum Mol Genet

Adolescent idiopathic scoliosis (AIS) is a common spinal deformity affecting millions of children. S...

Curve progression in adolescent idiopathic scoliosis

Replicated

2543

Participants

N/A

Studies

Details PubMed

GWAS 2017-02-28

Genome-wide association study identifies novel susceptible loci and highlights Wnt/beta-catenin pathway in the development of adolescent idiopathic scoliosis.

Zhu Z, Xu L et al.

Hum Mol Genet

The genetic architecture of adolescent idiopathic scoliosis (AIS) remains poorly understood. Here we...

Adolescent idiopathic scoliosis

Replicated

14024

Participants

N/A

Studies

Details PubMed

GWAS 2015-09-22

Genome-wide association study identifies new susceptibility loci for adolescent idiopathic scoliosis in Chinese girls.

Zhu Z, Tang NL et al.

Nat Commun

Adolescent idiopathic scoliosis (AIS) is a structural deformity of the spine affecting millions of c...

Adolescent idiopathic scoliosis

Replicated

10291

Participants

N/A

Studies

Details PubMed

GWAS 2015-07-23

A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis.

Ogura Y, Kou I et al.

Am J Hum Genet

Adolescent idiopathic scoliosis (AIS) is the most common spinal deformity. We previously conducted a...

Adolescent idiopathic scoliosis

Replicated

20196

Participants

N/A

Studies

Details PubMed

GWAS 2015-03-18

A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females.

Sharma S, Londono D et al.

Nat Commun

Idiopathic scoliosis (IS) is a common paediatric musculoskeletal disease that displays a strong fema...

Adolescent idiopathic scoliosis

Replicated

6136

Participants

N/A

Studies

Details PubMed

GWAS 2013-09-04

Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3.

Miyake A, Kou I et al.

PLoS One

Adolescent idiopathic scoliosis (AIS) is the most common spinal deformity, affecting around 2% of ad...

Adolescent idiopathic scoliosis (severe)

Replicated

13016

Participants

N/A

Studies

Details PubMed

GWAS 2013-05-12

Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis.

Kou I, Takahashi Y et al.

Nat Genet

Adolescent idiopathic scoliosis (AIS) is the most common pediatric skeletal disease. We previously r...

Scoliosis

Replicated

30894

Participants

N/A

Studies

Details PubMed

Title

Author

Journal

Disease/Trait

Date

Actions

Association of genetic variation in <i>COL11A1</i> with adolescent idiopathic scoliosis.

Yu H, Khanshour AM et al.

Elife

Adolescent idiopathic scoliosis

2024-01-26

Polygenic Risk Score of Adolescent Idiopathic Scoliosis for Potential Clinical Use.

Otomo N, Lu HF et al.

J Bone Miner Res

Adolescent idiopathic scoliosis (Cobb angle)

2021-06-22

Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese.

Kou I, Otomo N et al.

Nat Commun

Adolescent idiopathic scoliosis

2019-08-15

Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.

Khanshour AM, Kou I et al.

Hum Mol Genet

Adolescent idiopathic scoliosis

2018-11-01

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

Liu J, Zhou Y et al.

Hum Genet

Adolescent idiopathic scoliosis

2018-07-17

A functional variant in MIR4300HG, the host gene of microRNA MIR4300 is associated with progression of adolescent idiopathic scoliosis.

Ogura Y, Kou I et al.

Hum Mol Genet

Curve progression in adolescent idiopathic scoliosis

2017-10-15

Genome-wide association study identifies novel susceptible loci and highlights Wnt/beta-catenin pathway in the development of adolescent idiopathic scoliosis.

Zhu Z, Xu L et al.

Hum Mol Genet

Adolescent idiopathic scoliosis

2017-02-28

Genome-wide association study identifies new susceptibility loci for adolescent idiopathic scoliosis in Chinese girls.

Zhu Z, Tang NL et al.

Nat Commun

Adolescent idiopathic scoliosis

2015-09-22

A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis.

Ogura Y, Kou I et al.

Am J Hum Genet

Adolescent idiopathic scoliosis

2015-07-23

A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females.

Sharma S, Londono D et al.

Nat Commun

Adolescent idiopathic scoliosis

2015-03-18

Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3.

Miyake A, Kou I et al.

PLoS One

Adolescent idiopathic scoliosis (severe)

2013-09-04

Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis.

Kou I, Takahashi Y et al.

Nat Genet

Scoliosis

2013-05-12