Association of Estrogen Receptor-α Gene &amp; Metallothionein-1 Gene Polymorphisms in Type 2 Diabetic Women of Andhra Pradesh

Ganasyam, Shilpa Reddy; Rao, Talluri Bhaskar; Murthy, Y. Sree Rama; Jyothy, A.; Sujatha, M.

doi:10.1007/s12291-011-0179-2

Cited by 13 publications

(17 citation statements)

References 24 publications

(24 reference statements)

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“…The distribution of Pvu II and Xba I polymorphisms in our study showed an increased ratio of Pp to pp and that of Xx to xx genotypes and a reduced frequency of PP and XX genotypes of patients in comparison to that of Asian and Caucasian populations of European ancestry, even though African population showed a lower frequency of pp and xx genotypes [11,18-21]. As a matter of fact, linkage disequilibrium differential degree among different racial populations may explain previous contradiction among ERα gene polymorphism studies [22].…”

Section: Discussionsupporting

confidence: 54%

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Association of Estrogen Receptor α GenesPvuII andXbaI Polymorphisms with Type 2 Diabetes Mellitus in the Inpatient Population of a Hospital in Southern Iran

et al. 2013

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BackgroundEstrogen plays a fundamental role in the pathogenesis of type 2 diabetes mellitus (T2DM). Very few studies have shown the association between estrogen receptor α (ERα), PvuII and XbaI gene polymorphisms with T2DM in both men and women. We evaluated the hypothesis that PvuII and XbaI polymorphisms of ERα gene may be associated with T2DM in adult.MethodsFrom spring of 2010 to the fall of 2011, a case-control study was performed at clinical centers of Jahrom University of Medical Sciences. We included 174 patients with T2DM including men and women and 174 age, sex, and body mass index frequency-matched health controls. We analyzed the PvuII and XbaI polymorphisms of ERα by using the polymerase chain reaction-based restriction fragment length polymorphism method.ResultsNo significant differences between demographic characteristics of control and patients groups were observed. Allele frequencies of both PvuII and XbaI polymorphisms were significantly different between patients and control subjects (P=0.014 vs. P=0.002, respectively). When the group was separated into women and men, logistic regression analysis of genotype distribution of PvuII (pp vs. Pp+PP) in both sexes revealed that there was no significant association of PvuII genotype with men (odds ratio [OR], 1.67; confidence interval [CI], 0.86 to 3.28; P=0.89) and women (OR, 0.96; CI, 0.53 to 1.74; P=0.12).ConclusionPvuII and XbaI polymorphisms in ERα are related with T2DM in the inpatient population.

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Section: Discussionsupporting

confidence: 54%

“…Hallmarks of T2DM are insulin resistance in liver, skeletal muscle and fat, combined with insulin insufficiency owing to a slump in β-cell function [18]. Recognition of the susceptibility genes for T2DM may come to initial prevention of disease.…”

Section: Discussionmentioning

confidence: 99%

Association of Estrogen Receptor α GenesPvuII andXbaI Polymorphisms with Type 2 Diabetes Mellitus in the Inpatient Population of a Hospital in Southern Iran

et al. 2013

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“…Our results reported that the ESR1 PvuII C and XbaI G allele 232 frequencies were similar to other studies among Arab population (El-Beshbishy et al 2015; 233 Motawi et al 2015). However, several studies showed distinct prevalence for these two 234 polymorphisms, particularly the XbaI alleles (Ganasyam et al 2012). Discrepancies in allelic 235 frequencies between reports may be attributed to the ethnic variability of the studied populations, 236 heterogeneity of the analyzed diseases and sample size.…”

supporting

confidence: 84%

Peer Review #1 of "Estrogen receptor 1 gene polymorphisms (PvuII and XbaI) are associated with type 2 diabetes in Palestinian women (v0.1)"

2019

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Background. Type 2 diabetes mellitus (T2DM) is a multifactorial disease where both genetic and environmental factors contribute to its pathogenesis. The PvuII and XbaI polymorphisms of the estrogen receptor 1(ESR1) gene have been variably associated with T2DM in several populations. This association has not been studied in the Palestinian population. Therefore, the aim of this study was to investigate the association between the PvuII and XbaI variants in the ESR1 and T2DM and its related metabolic traits among Palestinian women. Methods. This case-control study included 102 T2DM and 112 controls in which PvuII and XbaI variants of the ESR1 gene were genotyped using amplicon based next generation sequencing (NGS). Results. Allele frequencies of both PvuII and XbaI variants were not significantly different between patients and control subjects (P>0.05). In logestic regression analysis adjusted for age and BMI, the ESR1 PvuII variant was associated with risk of T2DM in three genotypic models (P< 0.025) but the strongest association was observed under over-dominant model (TT+CC versus TC) (OR=2.32, CI=1.18-4.55 adjusted P=0.013). A similar but nonsignificant trend was also observed for the ESR1 XbaI variant under the over-dominant model (AA+GG versus AG) (OR=2.03, CI=1.05-3.95; adjusted P=0.035). The frequencies of the four haplotypes (TA, CG, CA, TG) were not significantly different in the T2DM patients compared with control group (P>0.025). Among diabetic group, an inverse trend with risk of CVD was shown in carriers of CG haplotype compared to those with TA haplotype (OR=0.28, CI=0.09 -0.90; adjusted P=0.035). Further, stratified analyses based on ESR1 PvuII and XbaI genotypes revealed no evidence for association with lipid levels (TC, TG, HDL, LDL). Conclusions. This is the first Palestinian study to conclude that ESR1 PuvII and XbaI variants may contribute to diabetes susceptibility in Palestinian women. Identification of genetic risk markers can be used in defining high risk subjects and in prevention trials. PeerJ reviewing PDF | Manuscript to be reviewed 25 Abstract 26 Background. Type 2 diabetes mellitus (T2DM) is a multifactorial disease where both genetic and 27 environmental factors contribute to its pathogenesis. The PvuII and XbaI polymorphisms of the 28 estrogen receptor 1(ESR1) gene have been variably associated with T2DM in several populations. 29 This association has not been studied in the Palestinian population. Therefore, the aim of this study 30 was to investigate the association between the PvuII and XbaI variants in the ESR1 and T2DM 31 and its related metabolic traits among Palestinian women. 32 Methods. This case-control study included 102 T2DM and 112 controls in which PvuII and XbaI 33 variants of the ESR1 gene were genotyped using amplicon based next generation sequencing 34 (NGS). Results. Allele frequencies of both PvuII and XbaI variants were not significantly different 35 between patients and control subjects (P>0.05). In logestic regression analysis adjusted for age and 36 BMI, the ...

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“…These findings are supported by another observation on the association of some single‐nucleotide polymorphisms (SNPs) in MT genes, especially in the MT‐1A and MT2A locus, with diabetes and diabetic neuropathy in a Chinese population . By contrast, another polymorphism on MT1A gene (rs11076161) in the intron region has not been associated with increased susceptibility to DM2 in Indian women .…”

Section: Metallothionein and Diabetesmentioning

confidence: 71%

Implications of impaired zinc homeostasis in diabetic cardiomyopathy and nephropathy

et al. 2017

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Impaired zinc homeostasis is observed in diabetes mellitus (DM2) and its complications. Zinc has a specific role in pancreatic β-cells via insulin synthesis, storage, and secretion. Intracellular zinc homeostasis is tightly controlled by zinc transporters (ZnT and Zip families) and metallothioneins (MT) which modulate the uptake, storage, and distribution of zinc. Several investigations in animal models demonstrate the protective role of MT in DM2 and its cardiovascular or renal complications, while a copious literature shows that a common polymorphism (R325W) in ZnT8, which affects the protein's zinc transport activity, is associated with increased DM2 risk. Emerging studies highlight a role of other zinc transporters in β-cell function, suggesting that targeting them could make a possible contribution in managing the hyperglycemia in diabetic patients. This article summarizes the current findings concerning the role of zinc homeostasis in DM2 pathogenesis and development of diabetic cardiomyopathy and nephropathy and suggests novel therapeutic targets. © 2017 BioFactors, 43(6):770-784, 2017.

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Association of Estrogen Receptor-α Gene & Metallothionein-1 Gene Polymorphisms in Type 2 Diabetic Women of Andhra Pradesh

Cited by 13 publications

References 24 publications

Association of Estrogen Receptor α GenesPvuII andXbaI Polymorphisms with Type 2 Diabetes Mellitus in the Inpatient Population of a Hospital in Southern Iran

Association of Estrogen Receptor α GenesPvuII andXbaI Polymorphisms with Type 2 Diabetes Mellitus in the Inpatient Population of a Hospital in Southern Iran

Peer Review #1 of "Estrogen receptor 1 gene polymorphisms (PvuII and XbaI) are associated with type 2 diabetes in Palestinian women (v0.1)"

Implications of impaired zinc homeostasis in diabetic cardiomyopathy and nephropathy

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