Genetic polymorphisms in the angiotensin converting enzyme, actinin 3 and paraoxonase 1 genes in women with diabetes and hypertension

Abstract

Objective: To study associations between polymorphisms in the angiotensin converting enzyme (ACE I/D), actinin 3 (ACTN3 R577X) and paraoxonase 1 (PON1 T(-107)C) genes and chronic diseases (diabetes and hypertension) in women. Materials and methods: Genomic DNA was extracted from saliva samples of 78 women between 18 and 59 years old used for genetic polymorphism screening. Biochemical data were collected from the medical records in Basic Health Units from Southern Brazil. Questionnaires about food consumption, physical activity level and socioeconomic status were applied. Results: The XX genotype of ACTN3 was associated with low HDL levels and high triglycerides, total cholesterol and glucose levels. Additionally, high triglycerides and LDL levels were observed in carriers of the TT genotype of PON1, and lower total cholesterol levels were associated to the CC genotype. As expected, women with diabetes/hypertense had increased body weight, BMI (p = 0.02), waist circumference (p = 0.01), body fat percentage, blood pressure (p = 0.02), cholesterol, triglycerides (p = 0.02), and blood glucose (p = 0.01), when compared to the control group. Conclusion: Both ACTN3 R577X and PON1 T(-107)C polymorphisms are associated with nutritional status and blood glucose and lipid levels in women with diabetes/hypertense. These results contribute to genetic knowledge about predisposition to obesity-related diseases.

Identification of novel prognostic targets in acute kidney injury using bioinformatics and next generation sequencing data analysis

“…BMI1 [245], CCL5 [246], GREM1 [247], ANGPTL3 [248], ARG2 [249], MSRA (methionine sulfoxidereductase A) [250], SNCA (synuclein alpha) [251], NOX4 [252], PFKFB2 [253], PDZK1 [254], SUCNR1 [255], LYVE1 [256], AZGP1 [257], ERBB4 [258] and PLAT (plasminogen activator, tissue type) [259] might serve as molecular markers for kidney fibrosis. BMI1 [260], IGF2 [261], IRF7 [262], CCL5 [263], ACTN3 [264], E2F1 [265], PF4 [266], TEAD4 [267], TBX4 [268], GREM1 [269], CYP11B2 [270], WNT3A [124], COMP (cartilage oligomeric matrix protein) [271], FLI1 [272], RAP1B [273], ANGPTL3 [274], CYP3A5 [275], HSD11B2 [276], HMGCS2 [277], AGXT2 [278], SLC22A12 [279], FGF1 [280], CRY1 [281], PPARGC1A [282], SLC19A3 [283], CYP2C8 [284], ACOX2 [285], SLC2A9 [286], MSRA (methionine sulfoxidereductase A) [287], VNN1 [288], EPHX2 [289], CROT (carnitine O-octanoyltransferase) [290], SCNN1B [291], NR4A3 [292], HSD17B7 [293], SLC22A2 [294], AQP2 [295], SLC2A2 [296], EGF (epidermal growth factor) [297], ANGPT1 [298], SLC26A4 [299], KL (klotho) [300], SCNN1G [301], PDZK1 [302], PTPRD (protein tyrosine phosphatase receptor type D) [303], ACE2 [304], FOLH1 [305], SUCNR1 [306], GLCE (glucuronic acid epimerase) [307], AQP3 [308], DPP4 [309], REN (renin) [310], TRPM6 [311], ABCB1 [312], MTTP (microsomal triglyceride transfer protein) [313], CALCRL (calcitonin receptor like receptor) [314], ENPEP (glutamylaminopept...…”

“…IGF2 [494], IRF7 [495], E2F1 [496], TEAD4 [497], KCNH2 [498], E2F2 [499], SNHG7 [500], FLI1 [501], CYP3A5 [502], HMGCS2 [503], GOT1 [504], PPARGC1A [505], GC (GC vitamin D binding protein) [506], VNN1 [507], NOX4 [508], SLC2A1 [509], BPGM (bisphosphoglyceratemutase) [164], NR4A3 [354], PFKFB2 [510], CDH2 [511], F11 [512], AQP2 [513], CLDN2 [514], EGF (epidermal growth factor) [515], ANGPT1 [516], KNG1 [517], SERPINA5 [518], HRG (histidine rich glycoprotein) [519], KL (klotho) [520], DEFB1 [521], ACE2 [522], AQP3 [523], CADM1 [188], DPP4 [524], STC1 [525], REN (renin) [526], TRPM6 [527], MSR1 [528], CCR1 [529], TNFRSF11B [530], FZD5 [531], ERBB4 [216], F8 [532], VCAM1 [533], PTGER3 [534] and ALB (albumin) [535] have been shown to influence the genetic risk of sepsis. IGF2 [536], IRF7 [100], PRKCB (protein kinase C beta) [101], CCL5 [537], EEF1A2 [538], ACTN3 [264], FCN1 [539], BRSK2 [540], MNX1 [541], AMH (anti-Mullerian hormone) [542], E2F1 [543], HAP1 [544], PF4 [545], AGER (advanced glycosylation end-product specific receptor) [546], E2F2 [547], TYMP (thymidine phosphorylase) [548], PPP1CC [549], NR2E1 [550], GREM1 [436], GRIN1 [551], WNT3A [552], COMP (cartilage oligomeric matrix protein) [553], BHMT (betaine--homocysteine S-methyltransferase) [554], ANGPTL3 [555], PCK1 [556], KMO (kynurenine 3-monooxygenase) [557], HSD11B2 […”