Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 25449831
Gene Name IGKC
Condition Endometriosis
Association Associated
Population size 626 (547 patients, 79 healthy controls)
Population details 547 (52 with Stage I endometriosis, 83 wth stage 2 endometriosis, 223 with stage 3 endometriosis, 189 with stage IV endometriosis), 79 healthy controls)
Age ?40 yrs
Sex Female
Infertility type Female infertility
Associated genes HP, IGKC, A1BG
Other associated phenotypes Endometriosis
Investigation of serum proteome alterations in human endometriosis.

J Proteomics. 2015 Jan 30;114:182-96. doi: 10.1016/j.jprot.2014.10.021. Epub 2014

Dutta, Mainak| Subramani, Elavarasan| Taunk, Khushman| Gajbhiye, Akshada| Seal, Shubhendu| Pendharkar, Namita| Dhali, Snigdha| Ray, Chaitali Datta| Lodh, Indrani| Chakravarty, Baidyanath| Dasgupta, Swagata| Rapole, Srikanth| Chaudhury, Koel

School of Medical Science and Technology, Indian Institute of Technology, Kharagpur, West Bengal, India.| School of Medical Science and Technology, Indian Institute of Technology, Kharagpur, West Bengal, India.| Proteomics Lab, National Centre for Cel

UNLABELLED: Endometriosis is a common benign gynecological disease, characterized by proliferation of functional endometrial glands and stroma outside the uterine cavity. The present study involves investigation of alterations in the serum proteome of endometriosis patients compared to healthy controls using 2DE and 2D-DIGE combined with MALDI TOF/TOF-MS. Comparison of serum proteome of endometriosis patients and healthy subjects revealed 25 significant differentially expressed proteins. Gene ontology and network analysis, performed using PANTHER, DAVID, WebGestalt and STRING, revealed that the differentially expressed proteins are majorly involved in response to stimulus, immune system, metabolic, localization and cellular processes. For serum diagnostic marker identification, several robust statistical screening procedures were applied to identify the set of the most significant proteins responsible for successful diagnosis of different endometriosis stages. Partial least squares (PLS) based marker selection tool and orthogonal partial least squares-discriminant analysis (OPLS-DA) were used to identify the most significant proteins for disease prediction. Western blotting validation in a separate cohort of patients revealed that haptoglobin (HP), Ig kappa chain C region (IGKC), alpha-1B-glycoprotein (A1BG) can be considered effective serum protein markers for the diagnosis of Stage II, III and IV endometriosis. For diagnosis of Stage I, only IGKC and HP seemed promising. BIOLOGICAL SIGNIFICANCE: Globally, about 12 in 100 women of reproductive age are diagnosed with endometriosis. The pathogenesis of the disease still remains unclear, leading to non-specific therapeutic approaches for disease management. Moreover, there is a delay of 8-12years in correct diagnosis after the initial onset of symptoms leading to a considerable impact on the woman's lifestyle. Also, the gold standard for diagnosis of endometriosis, laparoscopy, is an invasive procedure. The value of a noninvasive or semi-invasive diagnostic test for endometriosis with easily accessible fluids such as plasma, serum, urine, and saliva is, therefore, rightfully recognized. The present study is expected to considerably improve the understanding of the disease pathogenesis along with improved diagnostics and therapeutic approaches leading to better management of the disease.

Mesh Terms: Adult| Biomarkers/analysis/metabolism| Blood Proteins/analysis/*metabolism| Case-Control Studies| Electrophoresis, Gel, Two-Dimensional| Endometriosis/*blood/metabolism/pathology| Female| Humans| Proteome/analysis/*metabolism| Spectrometry, Mass,