From SNPedia
Lumbar disc herniation (LDH), a form of
lumbar disc disease, is one of the most common musculoskeletal diseases.
rs1676486, a SNP also known as c.4603C-->T in the
COLL11A1 gene (one of 3 Type XI collagen genes), has been implicated in a study of ~800 Japanese patients as being associated with LDH. The risk allele in dbSNP orientation is (A), and the odds ratio associated with the allele is 1.42 (CI: 1.23 - 1.65). [
PMID 17999364]
| ? | (A;A) (A;G) (G;G) |
|---|
 |
| Venter snp
|
| Source
| plos
|
| Gene
| COL11A1
|
| allele
| G
|
| frequency
| 0.833
|
| sift
| TOLERATED
|
| HuRef
| 1103675180140
|
| Disease Association
| Defects in COL11A1 are the cause of Marshall syndrome (MIM:154780). It is an autosomal dominant disorder with ocular, oro-facial, auditory and skeletal manifestations. It shares several features with Stickler syndrome, such as midfacial hypoplasia, high myopia, and sensorineural-hearing deficit.
|
Related to COLLAGEN, TYPE XI, ALPHA-1; COL11A1
according to
omim 120280. See
also
| PharmGKB | PA161614137 |
| Name | COL11A1:c.4603C>T |
| Annotation | In independent Japanese populations, the T allele was shown to be associated with Lumbar Disc Herniation. |
| Gene | COL11A1 |
| Featue | |
| Evidence | PubMed ID:17999364 |
| Drugs | |
| Diseases | Lumbar Disc Herniation |
| Curation Level | Curated |
