Search

Background: Type 2 diabetes mellitus (T2DM) is a multifaceted disease appropriate to elevated blood glucose levels resulting from decreased insulin and beta-cell activity. Using a case–control methodology, researchers have examined the relationship between polymorphisms in LEPR and T2DM in a population from south India. Materials and Methods: We conducted a genetic analysis of 311 participants, and results were accomplished using a case-control study, a meta-analysis of previous studies on LEPR was conducted, and type 2 diabetes genotype distribution across various geographical regions Malaysians, Chinese Han, Kuwait, Iran, Mongolia, and Han Chinese, Greece, Saudi, India (North India, Punjabi), (South India, Tamilnadu). The study involved 254 prospective investigations, and nine association studies were preferred according to preset criteria. Studies were assessed for quality using the Hardy-Weinberg equilibrium (HWE) and the Newcastle–Ottawa Scale (NOS). An analysis of the genetic models was conducted to determine their relationship, statistical analysis was utilized to calculate odds ratios (ORs) and matching 95% confidence intervals (CIs). Results: The LEPR-rs1137101 polymorphism in the case-control study was associated with a significant increase in the risk of type 2 diabetes. A meta-analysis revealed a connection between LEPR gene polymorphism (rs1137101) and type 2 diabetes risk. Investigators might gain a more profound thought on the significance of the identified genetic variation and its impact on the chance of developing type 2 diabetes by verifying and strengthening previously reported findings. The model of fixed effects was chosen due to the low heterogeneity, and significant associations were observed in the allelic (OR = 0.79, 95% CI [0.70–0.87]), homozygote (OR = 0.58, 95% CI [0.46–0.72]), dominant (OR = 0.66, 95% CI [0.56–0.79]), and recessive (OR = 0.83, 95% CI [0.71–0.96]) genetic models. A Begg's funnel plot and Egger's test indicated no publication bias. These findings suggest that the rs1137101 variant in the LEPR gene has been linked to a higher risk of T2DM. Conclusions: A larger sample size, however, is required for further research, and consideration of potential confounding factors is needed to validate these associations. Understanding the implications of LEPR gene polymorphisms in T2DM susceptibility may contribute to personalized treatment strategies for patients with T2DM. T2DM is the prevailing diabetes type globally, impacting approximately 90% of people living with diabetes. T2DM has become more commonplace, irrespective of socioeconomic status or demographic background. T2DM is characterized by hyperglycemia caused by increased blood glucose levels. Recent research indicates a substantial global rise in T2DM cases, suggesting a growing public health concern. The development of type 2 diabetes is influenced by both environmental and genetic factors. Among the genetic factors, the LEPR gene (leptin receptor gene) has been extensively studied and is associated with insulin sensitivity, hunger regulation, and energy consumption. The LEPR gene contains a polymorphism known as Gln223Arg, which alters the 223rd amino acid from arginine to glutamine and may influence signal transduction, potentially increasing susceptibility to type 2 diabetes. Investigations into the relationship between T2DM susceptibility and the LEPR gene variant (rs1137101) have been carried out through case-control studies and meta-analyses. The results imply that this genetic variation may influence type 2 diabetes risk, particularly in specific ethnic populations. To fully understand the precise mechanisms underlying these associations and to validate them further, more comprehensive research with larger sample sizes is necessary. In general, knowledge of the genetic components—such as the variant of the LEPR gene—can offer important insights into the pathophysiology of T2DM and could result in the creation of more specialized and individualized treatment plans. [ABSTRACT FROM AUTHOR]

Background: In Iran, lung cancer is the third most common type of cancer and its prevalence is increasing rapidly. Identification informative genetic polymorphisms in cancer causing genes including epidermal growth factor receptor (EGFR) as key gene in control of cellular proliferation via intrinsic tyrosine/kinase activity, exonuclease 1 (EXO1) as one of the upregulated gene in different human malignancies and leptin (LEP) participate in carcinogenesis in lung cancer appears to be used as potential genetic markers for predicting lung cancer risk. There is no study about investigate association of the EGFR (− 216G/T), Exo1 (K589E) and LEP (− 2548G/A) gene polymorphisms with risk of lung cancer in Iranian population. The aim of this study was investigating the association of EGFR (− 216G/T), Exo1 (K589E) and LEP (− 2548G/A) gene polymorphisms with risk of lung cancer as a potentially diagnostic biomarker in Iranian population. Methods: In this case–control study, A total of 100 patients with lung cancer and 100 age and gender-matched healthy controls were recruited into this study and the association between EGFR (− 216G/T), Exo1 (K589E) and LEP (− 2548G/A) gene polymorphisms with the risk of lung cancer was investigated by using PCR–RFLP technique and bioinformatics approach. Results: The rs712829 of EGFR gene show that a significant statistical difference between G allele and risk of lung cancer (P = 0.001, OR = 2.976, CI = 95%, 1.557–5.691), in contrast, the T allele and TT genotype show a protective role against the risk of lung cancer. Result of in silico analysis indicated that the rs712829 alter splicing and promoter regulation of EGFR gene and associated with the risk of lung cancer. PCR–RFLP result for rs1047840 of Exo1 gene showed that the AA genotype and A allele of this polymorphism associated with risk of lung cancer, whereas the GG genotype show a protective effect against the risk of lung cancer (P = 0.004, OR = 5.391, CI = 95%, 1.690–17.200). On the other hand, in silico analysis showed that the existence of rs1047840 in Exo1 gene influence lung cancer susceptibility. For rs7799039 of LEP gene, PCR–RFLP analysis showed that, there is no significant association between this polymorphism and the risk of lung cancer. Conclusion: The rs712829 of EGFR gene and rs1047840 of Exo1 are associated with risk of lung cancer among Iranian population and can be used as a potentially candidate biomarker for early detection and primary prevention. [ABSTRACT FROM AUTHOR]

Background & Objective: Leptin is an adipocyte-derived hormone with a critical role in energy balance. As demonstrated by previous investigations, leptin acts as a proliferative and angiogenic factor in cancer cells. However, results regarding its role in colorectal cancer are still inconclusive. We aimed to evaluate serum leptin and tissue expression of leptin receptor (Ob-R) in normal and malignant samples of colorectal. Methods: Serum and tissue samples from pathology-confirmed colorectal cancer patients and normal controls referring to a university hospital of Mazandaran were obtained during 2019-21. ELISA and immunohistochemistry were applied to determine leptin and Ob-R expression respectively. Results: A total of 90 samples belonging to 46 normal and 44 CRC patients were enrolled. Normal and CRC groups included 32 (69.56%) and 21 (47.72%) female subjects respectively. The average leptin concentration in the normal group was 115.80 and, in the patient, group was 124.47 ng/mL (P=0.897). CRC cases showed an insignificantly higher Ob-R detection rate (P=0.086). Conclusion: There was no significant difference in leptin and Ob-R expression between CRC patients and normal subjects. Thus, leptin and its receptor may not be useful as a biomarker of CRC. [ABSTRACT FROM AUTHOR]

Diabetes comprises a serious disease with significant growth in the number of cases in recent years. Here, we cover the gap in information between leptin (LEP) and type 1 diabetes in the Iranian population. To recognise LEP G2548A and LEP receptor Q223R polymorphisms in Iranian people and their association with type 1 diabetes susceptibility. Characteristics such as fasting blood sugar (FBS) were measured in 80 control non-diabetic individuals and 89 diabetic patients. Moreover, LEP G2548A and LEP receptor Q223R polymorphisms were genotyped using polymerase chain reaction-restriction fragment length polymorphism technique. The frequency of the A allele was nearly three times greater in diabetes patients than in the control group. In addition, in the diabetes group, the AA genotype was five times greater than in the control group (p < 0.01). Furthermore, AA and AA + AG genotype models had higher FBS levels than the GG + AG and GG genotype models, respectively (p < 0.01). The LEP G2548A polymorphism could be related to type 1 diabetes susceptibility, but not LEPR Q223R polymorphism in the Iranian population. Importantly, further studies are essential to examine the impact of LEP G2548A and LEPR Q223R polymorphisms in the endocrinology area. [ABSTRACT FROM AUTHOR]