Lumbar disc herniation
|?|| (A;A) (A;G) (G;G) ||28|
(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
| 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.
|Desc||COLLAGEN, TYPE XI, ALPHA-1; COL11A1|
|| not reviewed
|| Insufficiently evaluated not reviewed
[PMID 23497244] Allelic expression analysis of the osteoarthritis susceptibility gene COL11A1 in human joint tissues
[PMID 23624467] Association of type XI collagen genes with chronic Achilles tendinopathy in independent populations from South Africa and Australia.
[PMID 24854855] Extended association study of PLEKHA7 and COL11A1 with primary angle closure glaucoma in a Han Chinese population