Dataset Information

Lack of association between the insulin receptor substrates-1 Gly972Arg polymorphism and type-2 diabetes mellitus among Saudis from Eastern Saudi Arabia.

ABSTRACT: To investigate the association between the insulin receptor substrate-1 (IRS1) Gly972Arg polymorphism and type-2 diabetes mellitus (T2DM) among Saudis from Eastern Saudi Arabia. This study was conducted between May and December 2014 at King Fahad Hospital of the University, Al-Khobar, Kingdom of Saudi Arabia. In a case-control study design, a total of 143 subjects (age range: 35-73 years) comprising 74 healthy controls and 69 patients with T2DM were examined. Blood samples were collected from subjects and subjected to genomic DNA extraction and chemical analysis. The IRS1 Gly972Arg polymorphism was then genotyped using the standard polymerase chain reaction-restriction fragment length polymorphism technique. Eight out of 74 (10.8%) of the control group carried at least one copy of the mutated allele. The frequency (8.7%) of the IRS1 variant was also found in the diabetic group. Logistic regression analysis showed an adjusted odds ratio of 1.04, 95% confidence interval 0.28 - 3.95, and a p-value of 0.94. We failed to find any association between the IRS1 Gly972Arg polymorphism and T2DM.

SUBMITTER: Alsalman HA

PROVIDER: S-EPMC4707397 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature

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Lack of association between the insulin receptor substrates-1 Gly972Arg polymorphism and type-2 diabetes mellitus among Saudis from Eastern Saudi Arabia.

Alsalman Hawra A HA Kaabi Yahia A YA

Saudi medical journal 20151201 12

<h4>Objectives</h4>To investigate the association between the insulin receptor substrate-1 (IRS1) Gly972Arg polymorphism and type-2 diabetes mellitus (T2DM) among Saudis from Eastern Saudi Arabia. <h4>Methods</h4>This study was conducted between May and December 2014 at King Fahad Hospital of the University, Al-Khobar, Kingdom of Saudi Arabia. In a case-control study design, a total of 143 subjects (age range: 35-73 years) comprising 74 healthy controls and 69 patients with T2DM were examined. ...[more]

PMID: 26620983

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Project description:BackgroundThere is paucity in the literature regarding gallbladder cancer in Saudi Arabia, possibly because it is not among the top 10 cancers diagnosed nationwide according to the Saudi Cancer Registry. Moreover, national or regional data on gallbladder cancer in Saudi Arabia have not been analyzed. The purpose of this study was to describe the presentation, disease stage, histology, and survival rates for gallbladder cancer in Saudi patients at a single institution between January 1, 2010 and December 31, 2017.Materials and methodsThis was a retrospective study of 76 patients who presented to our hospital between January 1, 2010 and December 31, 2017, with established diagnosis of gallbladder carcinoma. The diagnosis was made either histopathologically following simple laparoscopic cholecystectomy or biopsy from metastatic liver lesion in patients with gallbladder mass, or the high suspicion of gallbladder carcinoma based on incidental radiological findings. Presentation, disease stage, histology, and treatment modalities were analyzed using descriptive statistics and frequency distributions. Survival rates were analyzed and presented using Kaplan-Meier curves.ResultsBased on initial analyses the disease was more frequent among women (62.0%) than men (39.0%). Surgical resection was attempted in 40.8% patients. The average age at presentation and diagnosis of gallbladder carcinoma was 62.4 years. The disease had two peaks, one at 51.0 years and the other between 66.0 and 70.0 years. The median survival time for the overall at-risk patients was only 1.0 year, while for stage IVB patients was 7.2 months. Adenocarcinoma not otherwise specified (NOS) was the most common histopathology type (75.0%), with most patients presenting with stage IVB disease (75.0%). Gallbladder carcinoma was incidentally detected in 42.1%, including three cases (3.9%) diagnosed at our hospital.ConclusionsGallbladder cancer is a rare type of cancer in Saudi Arabia, and most patients are treated surgically, despite being mostly diagnosed at the advanced stage of the disease.

Project description:BackgroundEastern province of Saudi Arabia is an industrial zone with large immigrant population and high level of tuberculosis case notification among immigrants. The impact of immigration and current trends of tuberculosis transmission among immigrants and autochthonous population in the region had not been investigated so far using molecular tools.MethodologyDuring 2009- 2011, a total of 524 Mycobacterium tuberculosis isolates were collected from the central tuberculosis reference laboratory, representing an estimated 79.2% of the culture-positive tuberculosis cases over the study period in the province. These isolates were genotyped by using 24 locus-based MIRU-VNTR typing and spoligotyping followed by first line drug susceptibility testing. The molecular clustering profiles and phylogenetic diversity of isolates were determined and compared to the geographical origins of the patients.Principle findingsGenotyping showed an overall predominance of Delhi/CAS (29.4%), EAI (23.8%) and Ghana (13.3%) lineages, with slightly higher proportions of Delhi/CAS among autochthonous population (33.3 %) and EAI (30.9%) among immigrants. Rate of any drug resistance was 20.2% with 2.5% of multi-drug resistance. Strain cluster analysis indicated 42 clusters comprising 210 isolates, resulting in a calculated recent transmission index of 32.1%. Overall shared cluster ratio was 78.6% while 75.8% were shared between autochthonous population and immigrant population with a predominance of immigrants from South east Asia (40.7%). In contrast, cross national transmission within the immigrant population was limited (24.2%). Younger age (15-30- p value-0.043, 16-45, p value 0.030), Saudi nationality (p value-0.004) and South East Asian origin (p value-0.011) were identified as significant predisposing factors for molecular strain clustering.ConclusionsThe high proportion of molecular clusters shared among the autochthonous and immigrant populations suggests a high permeability of tuberculosis transmission between both populations in the province. These results prompt for the need to strengthen the current tuberculosis control strategies and surveillance programs.

Project description:Background: Polycystic ovary syndrome (PCOS) is commonly associated with metabolic abnormalities such as hyperinsulinemia, insulin resistance and obesity. The genetic variants of genes regulating insulin action, expression and regulation are suggested as possible factors involved in development and severity of clinical manifestations in PCOS. Aim: We investigated whether IRS-1Gly972Arg (rs1801278) polymorphism is associated with increased risk of PCOS in Kashmiri women. The correlation of various clinical, metabolic and hormonal markers with rs1801278 single nucleotide polymorphism was analyzed. The genotypic−phenotypic association of clinical manifestations of PCOS with the tested genetic variant was also assessed. Results: There were no significant differences in allele frequency (OR = 0.87, CI = 0.59−1.29, χ2 = 0.456, p = 0.499) or genotypic distribution (χ2 = 3.73, p = 0.15) between PCOS women and controls. No significant association was also found in the dominant (OR = 1.63, χ2 = 0.377, p = 0.53), recessive (OR = 0.79, χ2 = 1.01, p = 0.31) or heterozygote vs. homozygote (OR = 1.34, χ2 = 1.53, p = 0.22) genotype model analysis. The genotype−phenotype correlation analysis showed that the Arg allele was significantly associated with increased central adiposity markers hip circumference (p = 0.012), and body adiposity index BAI (p = 0.002) in the recessive model in PCOS women. The two-hour glucose (p = 0.04) and insulin resistance marker HOMA (p = 0.44) were significantly higher in Arg allele carriers. The androgen excess markers dehydroepiandrosterone sulfate DHEAS (p = 0.02), Ferriman−Gallwey score (p = 0.012), prevalence of acne, alopecia and hirsutism (all p < 0.01) were significantly elevated in the wild-type GG genotype. Conclusions:IRS-1Gly972Arg genetic variant does not increase the risk of PCOS in Kashmiri women. However, this polymorphism is associated with clinical manifestations of insulin resistance, obesity and hyperandrogenism, suggesting its possible role in variable phenotypic manifestations of PCOS.

Dataset Information

Lack of association between the insulin receptor substrates-1 Gly972Arg polymorphism and type-2 diabetes mellitus among Saudis from Eastern Saudi Arabia.

Publications

Lack of association between the insulin receptor substrates-1 Gly972Arg polymorphism and type-2 diabetes mellitus among Saudis from Eastern Saudi Arabia.

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