Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 20797713
Gene Name HLA-DRB1
Condition Endometriosis
Association Associated
Mutation CCL21 (rs2812378), HLA-DRB1 (rs660895)
Population size 1149
Population details 1,149 samples (798 patients with endometriosis (176 minimal stage endometriosis, 116 mild endometriosis, 88 moderate stage endometriosis, 179 severe stage endometriosis ) and 351 controls)
Age Control patients (aged 32+/-5 years; body mass index 23.4+/- 4), Endometriosis (aged 31 +/- 4 years; body mass index 23.2 +/- 4)
Sex Female
Infertility type Female infertility
Other associated phenotypes Endometriosis
Endometriosis and autoimmune disease: association of susceptibility to moderate/severe endometriosis with CCL21 and HLA-DRB1.

Fertil Steril. 2011 Jan;95(1):437-40. doi: 10.1016/j.fertnstert.2010.07.1060.

Sundqvist, Johanna| Falconer, Henrik| Seddighzadeh, Maria| Vodolazkaia, Alexandra| Fassbender, Amelie| Kyama, Cleophas| Bokor, Attila| Stephansson, Olof| Padyukov, Leonid| Gemzell-Danielsson, Kristina| D'Hooghe, Thomas M

Department of Women's and Children's Health, Division of Obstetrics and Gynecology, Karolinska Institutet/Karolinska University Hospital, Stockholm, Sweden.

This study investigates the association of rheumatoid arthritis-associated single nucleotide polymorphisms in endometriosis. We found an association of CCL21 (rs2812378) and HLA-DRB1 (rs660895) with moderate to severe endometriosis.

Mesh Terms: Adult| *Autoimmune Diseases/epidemiology/genetics/immunology| Chemokine CCL21/*genetics| *Endometriosis/epidemiology/genetics/immunology| Female| Genetic Predisposition to Disease/epidemiology| HLA-DR Antigens/*genetics| HLA-DRB1 Chains| Humans|