Association of ANGPTL3 polymorphisms with high-density lipoprotein cholesterol uptake capacity in patients with cardiovascular disease

Introduction Previous studies have shown the importance of angiopoietin-like 3 (ANGPTL3) as a modulator of lipid profiles. Cholesterol uptake capacity (CUC) is one means for assessing high-density lipoprotein (HDL) functionality. This study for the first time has investigated the relationship between genetic ANGPTL3 polymorphism and CUC in patients with cardiovascular disease. Methods Five hundred three subjects comprising 350 healthy subjects and 153 individuals who developed a cardiovascular disease (CVD) event during follow-up were recruited as part of the Mashhad Stroke and Heart Atherosclerotic Disorder (MASHAD) cohort study. A modified CUC method was used to determine the CUC of serum samples. Applied amplification refractory mutation system PCR was performed for ANGPTL3 variants genotyping including: rs10789117, rs1748195, and rs11207997. Sanger sequencing was applied to confirm the genotypes. Results The results showed that there was a significant relationship between the rs1748195 genotypes and HDL concentration in the CVD group (p = 0.02). Moreover, individuals with a GG genotype of the rs1748195 were associated with a lower risk of CVD (OR = 0.49, 95% CI = 0.24–0.98, p = 0.04) compared with CC genotype in the CUC ≤ 1.7 a.u subgroup. Moreover, the CT genotype of rs11207997 was associated with a lower risk of CVD (OR = 0.74, 95% CI = 0.41–1.3, p = 0.01) compared with CC genotype in CUC > 1.7 a.u subgroup. Conclusion The results showed that the CT genotype of the rs11207997 variant was associated with a lower risk of incident CVD in patients with higher HDL functionality. As well, the rs1748195 gene variant may contribute to a reduced risk of CVD

Association between Genetic Variants Linked to Premature Ovarian Insufficiency and Inflammatory Markers: A Cross-Sectional Study

Background: Premature menopause (PM) is the cessation of ovarian function before age 40. PM women are more likelyto have cardiovascular diseases (CVDs), diabetes, and mental disorders. This is the first study that assessed the associationof single nucleotide polymorphisms (SNPs) with anti-heat shock protein 27 (Hsp27), High-sensitivity C-reactive protein(hs-CRP), and PM and serum pro-oxidant-antioxidant balance (PAB), as putative risk factors for CVDs. We aimed toexplore the association of oxidative stress markers with eight different SNPs shown to be related to premature menopause.Materials and Methods: In this cross-sectional research, we included 183 healthy women and 117 premature menopausalwomen. We determined baseline characteristics for all participants and measured serum hs-CRP, anti-HSP-27 antibody titer, and PAB levels using the established methods. Genotyping for eight SNPs was done usingthe tetra amplification refractory mutation system polymerase chain reaction (Tetra-ARMS PCR) and allele-specificoligonucleotide PCR (ASO-PCR) methods.Results: We found a significant difference between mean serum PAB levels and the genetic variant of rs16991615(P=0.03). ANCOVA showed a significant effect of the genotypes rs4806660 and rs10183486 on hs-CRP serum levelsin the case and control groups, respectively (P=0.04 and P=0.007). ANCOVA also showed an association betweenrs244715 genotypes and anti-hsp27 serum levels in the case group (P=0.02). There was a significant effect of thegenotypes of rs451417 on the serum hs-CRP level in the control group (P=0.03).Conclusion: There was a significant association of the genetic variants related to PM with oxidative stress and inflammatorymarkers (serum PAB, anti-hsp27 antibody, and hs-CRP). Accordingly, this seems to be an effective approach topredicting susceptible subjects for cardiovascular and mental disorders as well as various cancers

Association between diabetes mellitus and rs2868371; a polymorphism of HSPB1

Introduction: Diabetes (DM) is a type of metabolic disorder that its types are generated by collectingof genetic and environmental risk agents. Here, the association between HSPB1 polymorphism as a genetic risk factor and DM was investigated. Methods: Total 690 participants from MASHAD cohort study population were recruited into the study.Anti-HSP27-level was assessed followed by genotyping using Taqman®-probes-based assay. Anthropometric, demographic and hematological/biochemical characteristics were evaluated. Kaplan-Meier curves were utilized, while logistic regression models were used to assess the association of the genetic variant with clinical characteristics of population. Results: Finds was shown there are meaningful differences among groups of age, height, waist circumference, systolic blood pressure, FBG,TG, HDL-C, and hs-CRP, and was no big -significant difference between theexists in different HSP27 SNP in the two studied groups (with and without DM), also was no remarkable relation between genetic forms of HSPB1and T2DM. This investigation was the first research that analyzed the relationship between the genetic type of the HSPB1 gene (rs2868371) and Type 2 diabetes (DM2). In our population, the CC genotype (68.1%) had a higher prevalence versus GC (26.6%) and GG (5.3%) genotypes and the data shown that no genetic difference of HSPB1 gene polymorphism (rs2868371) was related with DM2. Conclusion: HSPB1 polymorphism, rs2868371, was not associated with type 2 diabetes mellitus

Reference intervals for routine biochemical markers and body mass index: a study based on healthcare center database in northeastern Iran

Age‐ and sex‐specific reference intervals (RIs) for some biochemical tests may be useful for their interpretation, due to the variations in lifestyle and genetic, or ethnic factors. The aim of this study was to obtain RIs for some routine biochemical markers including a serum lipid profile, fasting blood glucose (FBG), aspartate and alanine aminotransferase (AST and ALT), uric acid, and body mass index (BMI) in subjects who attended primary healthcare centers. The large database of primary healthcare centers uses RIs to report results for children, adolescents, and young and old adults. RIs were obtained by using the indirect method, recommended by the CLSI Ep28‐A3 guidelines. RIs for FBG, BMI, and serum lipid profile, including triglyceride, total cholesterol, high‐density lipoprotein cholesterol, and low‐density lipoprotein cholesterol in people aged 18 to 120 years, were obtained without age/sex segmentation. RIs for serum AST, ALT, and uric acid were obtained without age segmentation, though these RIs were higher in males than females. The RIs for AST, ALT, and uric acid were higher in men, while the RIs for the other variables were similar in both sexes. This is the first study reporting the use of indirect RIs for BMI