Table 2 Body system genes expressed in granulosa cells and their association with systemic diseases
Disease category | Disease | Genes | Phenotypic | Gene ontology |
|---|---|---|---|---|
Genetic | Autosomal Dominant Non-Syndromic Intellectual Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay Chromosome Deletion Syndrome Cone-rod dystrophy [2] Congenital disorder of Glycosylation Cystic fibrosis Hypertrophic Cardiomyopathy Nephrophthisis [14] Retinitis Pigmentosa West syndrome | AAR2 [25], ATAD3A [26], BCAN [27], BRSK2 [28], CACNA1E [29], CERK [30], CFAP74 [31], CHD5 [32], COG4 [33], COL18A1 [34], COMT [35], DNASE1 [36], EMC1 [37], ESPN [38], FLG [39], FUS [40], GNB125, HP [41], MMP9 [42], MUC5AC [43], NOS1AP [44], NUP133 [45], PC [46], PIEZO2 [47], RERE [48], RNF207 [49], SHANK2 [50], SLC1A7 [51], TNNI2 [52], TTLL10 [53], ZNF423 [54] | Abnormal myelination Autism Cognitive impairment Decreased circulating glucagon level EEG Abnormality Epidermal spongiosis Gastrophageal reflux Growth delay Hyperactivity Hypermetropia Intrauterine growth retardation | Immune response-activating signal transduction Neurotransmitter reuptake Nucleotide binding  + ve regulation of voltage-gated K + channel activity Regulation of heart rate by chemical signal Regulation of muscle contraction Skeletal muscle contraction Vagus nerve development Visual behaviour |
Autoimmune | Alzheimer's Disease Autism Spectrum Disorder Dystonia Non-specific early-onset epileptic encephalopathy Rheumatoid arthritis Spastic paraplegia [47] Systemic lupus erythematosus West syndrome | AAR2, ATAD3A, BRSK2, CACNA1E, CCDC78, COL18A1, COMT, CREBBP, DNASE1, DNHD1, FLG, FUS, GNB1, HP, MMP9, MUC5AC, NAV2, NIN [55], NOS1AP, NPHP4, NUP133, OBSCN, PANK2, PARS2 [56], PIEZO2, PLCCB1, PLXNA2 [57], PPP1R16B, RANGAP1, RERE, SHANK2, SLC1A2, SLC1A7, TNNT2, USP14 [58], ZC3H12A [59], ZNF423 | Abnormal central motor function Abnormal muscle tone Autosomal dominant inheritance Generalised hypotonia Hip dysplasia Hyperactivity Hypotonia Short Stature | Acute inflammatory response Antioxidant activity ATPse regulator activity Basement membrane organisation Cellular response to Chemokine Immune Response-activating signal transduction Macrophage differentiation Metalloendopeptidase activity Neurotransmitter reuptake  + ve regulation of lipid storage  + ve regulation of voltage-gated K + channel activity Protein binding |
Obesity | Body mass index, Quantitative trait locus [11] Myocardial infraction Osteoarthritis | DNASE1, HP, MMP9, NID2, TPSAB1 [60], ZC3H12A | Abnormal acute inflammation Antinuclear antibody positivity Aplasia / hypoplasia involving pelvis Autoimmune antibody positivity Increased IgG3 level Increased interleukin secretions Lupus nephritis Malar rash Pericarditis Pleuritis Serositis | Leukocyte migration Macrophage differentiation Metalloendopeptidase activity -ve regulation of cation channel activity  + ve regulation of lipid storage  + ve regulation of ROS metabolic process  + ve regulation of receptor binding Proteolysis Protein binding Regulation of acute inflammatory response |
Cancers | Breast Cancer Colorectal Cancer Corneal ulcer Lung Cancer Lymphoma Myelodysplastic syndrome Prostate Cancer Wilms Tumour [5] | ARID4B, AZIN2 [61], CDC20 [62], CSE1L [63], ERMAP [64], FCAMR [65], GJB5 [66], KIF2C [67], LAMB3 [68], MAPK8IP3 [69], MMP9, MRPL39, MSLN [70], PRDM2 [71], TNFRSF8 [72], TTLL5 | Decreased sensitivity to xenobiotic induced morbidity/mortality Hypermetropia Increased circulating interferon-gamma level Increased IgG3 level Increased interleukin secretions Renal cyst | ATPse regulator activity Biotin binding Catecholamine catabolic process Deoxyribonuclease activity ECM disassembly Immune Response-activating signal transduction Membrane protein complex N-terminal peptidyl-lysine acetylation Ornithine metabolic process Peptide N-acetyltransferase activity  + ve regulation of voltage-gated K + channel activity Regulation of neutrophil mediated cytotoxicity |
Inflammatory | Acute dacryocystitis Asthma Blepharitis Senile ectropion | DNASE1, MUC5AC, MMP9, NOS1AP, TPSAB1 | Abnormal acute inflammation Abnormal histamine physiology Abnormal interleukin-12 secretion Abnormality of upper limb metaphysis Decreased mast cell protease storage Hypoproteinemia Increased circulating interferon-beta level Increased circulating interferon-gamma level Increased IgG3 level Increased interleukin secretions Lupus Nephritis Microscopic Haematuria | Cellular response to ROS ECM disassembly Leukocyte migration Macrophage differentiation Metalloendopeptidase activity -ve regulation of cation channel activity -ve regulation of epithelial cell differentiation involved in kidney development Neutrophil activation involved in immune response NO synthase activity Phosphatidylinositol-mediated signalling  + ve regulation of voltage-gated K + channel activity  + ve regulation receptor binding Proteolysis Regulation of neuroinflammatory response Regulation of neutrophil mediated cytotoxicity |
Nervous System Disease | Alzheimer's Disease Amyotrophic Lateral Sclerosis Essential tremor Glaucoma Intracranial berry aneurysm Microcephaly Myopathy Schizophrenia Spastic paraplegia [47] | CACNA1E, GNB1, PANK2, NPHP4 [73], FUS, RERE, SHANK2, COMT, DNHD1, SLC1A2, NOS1AP, PARS2, PIEZO2, PLXNA2, CREBBP, ZNF423 | Cerebral degeneration Mental deterioration Neuronal loss in the cerebral cortex Nystagmus Pallidal degeneration Postnatal growth retardation Scoliosis Social and Occupational deterioration Subcortical cerebral atrophy | Catechol O-methyltransferase L-dopa O-methyltransferasec -ve regulation of cation channel activity Neurotransmitter reuptake Peptide N-acetyltransferase activity Regulation of heart rate Skeletal muscle contraction Synaptic receptor adaptor activity Vagus nerve development |