C(- 106)T polymorphism in ALR2 and risk of microvascular complications in T2DM patients in north Indian population.
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ABSTRACT:
SUBMITTER: Mishra A
PROVIDER: S-EPMC9346037 | biostudies-literature | 2022 Aug
REPOSITORIES: biostudies-literature
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C(- 106)T polymorphism in ALR2 and risk of microvascular complications in T2DM patients in north Indian population.
Mishra Archana A Ahmad Mohammad Kaleem MK Ahsan Haseeb H Khan Saba S Mehrotra Sudhir S Alam Roshan R
Molecular biomedicine 20220803 1
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Project description:BackgroundCataract is the leading cause of bilateral blindness in India. It has been reported that cataract is responsible for 50-80% of the bilaterally blind in the country. Cataract formation is a natural part of the ageing process. At present, adequate data are not available regarding the FABP2 and PPARG2 gene polymorphisms and their susceptibility with cataract cases in the North Indian population. Thus, the present study was carried out to investigate the association of FABP2 and PPARG2 gene polymorphisms with cataract cases and controls.Materials and methodsThis study includes 130 cataract cases and 118 controls. FABP2 and PPARG2 gene polymorphisms in cases and controls were evaluated by PCR-RFLP.ResultsFrequencies of Ala54Ala, Ala54Thr and Thr54Thr genotypes in FABP2 gene in cataract cases and controls were 50.76%, 39.23%, 10% and 25.42%, 61.86%, 12.71% respectively. The PPARG2 gene CC, CG, GG genotype frequencies were 11.53%, 87.69% and 0.76% in cases and 21.18%, 39.83% and 38.98% in healthy controls respectively. Significant differences were observed in the frequencies of FABP2 Ala54Ala, Ala54Thr genotype (p < 0.05) and PPARG2 CC, CG, GG genotype (p < 0.05) between cases and controls.ConclusionThe findings of this study suggest that FABP2 and PPARG2 gene polymorphisms can be an informative marker for early identification of population at risk of cataract. The potential role of FABP2 and PPARG2 gene polymorphisms as a marker of susceptibility to cataract needs further studies in a larger number of patients.
| S-EPMC4287883 | biostudies-literature
Project description:Glaucoma is the leading cause of irreversible blindness and the second most common cause of all blindness after cataracts. This study investigates the association of polymorphism in the CYP46A1 and PPAR?2 genes and primary open angle glaucoma (POAG).This study evaluated 122 POAG cases (POAG group) and 112 cases of nonglaucomatous patients (control group). Polymorphisms of the CYP46A1 gene and PPAR?2 gene were evaluated with the polymerase chain reaction-restriction fragment length polymorphism method in both groups.The mean ages were 49.88 ± 12.34 years and 53.74 ± 11.87 years for the POAG group and control group, respectively. The CYP46A1 gene CC, CT, TT genotype frequencies were 13.93%, 58.2%, 27.87% in the POAG group and 19.6%, 40.19%, 40.19% in the control group, respectively. The PPAR?2 gene CC, CG, GG genotype frequencies were 16.83%, 54.45%, 28.71% in cases and 3.92%, 28.43%, 67.64% in the control group, respectively. Statistically, significant differences in the frequencies of CYP46A1 CC, CT, TT and PPAR?2 CC, CG, GG (P < 0.05) genotype were found between groups (P < 0.05, all comparisons).Findings of this study suggest that CYP46A1 gene and PPAR?2 gene polymorphisms can be a predictive marker for early identification of population at risk of POAG, although a larger sample size is required to determine the role of these polymorphisms in the pathogenesis and course of POAG.
| S-EPMC4845614 | biostudies-other
Project description:BackgroundThe role of single nucleotide polymorphism rs10937405 (C>T) of the TP63 gene in cancer including leukemia has previously been studied in different world populations; however, the role of this variant in leukemia in the North Indian population of Jammu and Kashmir is still unknown.ObjectivesIn the present study, we investigated the association of genetic variant rs10937405 with leukemic in the Jammu and Kashmir population.MethodsA total of 588 subjects, (188 cases and 400 controls) were recruited for the study. The rs10937405 variant was genotyped by using the real-time based TaqMan assay.ResultsA statistically significant association was observed between the rs10937405 and leukemia [OR of 1.94 (95% CI 1.51-2.48), p=1.2x10-6].ConclusionThe current study concludes that the rs10937405 variant is a risk factor for the development of leukemia in the population of Jammu and Kashmir, North India. However, it would be interesting to explore the contribution of this variant in other cancers as well. Our findings will help in the development of diagnostic markers for leukemia in the studied population and potentially for other North Indian populations.
| S-EPMC8843251 | biostudies-literature
Project description:Interleukin-6 (IL6) is encoded by the IL6 gene in human and acts as pro-inflammatory cytokine and an anti-inflammatory cytokine. Recent studies established that IL6 substantially contribute in the diagnosed of systemic inflammation for the patients suffering from lung diseases such as chronic obstructive pulmonary disease (COPD). Thereof, this work aimed to investigate the protagonist of IL6 (-174 G/C) genotypes as an essential risk factor for COPD in north Indian population. In the study, a total of 200 clinically diagnosed patients with COPD were selected against 200 patients. Statistical analysis reveleaed that there was no significant association between the IL6 -174 G/C genetic polymorphism and the risk of COPD (P>0.05).
| S-EPMC7382402 | biostudies-literature
Project description:BackgroundBreast Cancer (BC) is associated with inherited gene mutations. High throughput genotyping of BC samples has led to the identification and characterization of biomarkers for the diagnosis of BC. The most common genetic variants studied are SNPs (Single Nucleotide Polymorphisms) that determine susceptibility to an array of diseases thus serving as a potential tool for identifying the underlying causes of breast carcinogenesis.MethodsSNP genotyping employing the Agena MassARRAY offers a robust, sensitive, cost-effective method to assess multiple SNPs and samples simultaneously. In this present study, we analyzed 15 SNPs of 14 genes in 550 samples (150 cases and 400 controls). We identified four SNPs of genes TCF21, SLC19A1, DCC, and ERCC1 showing significant association with BC in the population under study.ResultsThe SNPs were rs12190287 (TCF21) having OR 1.713 (1.08-2.716 at 95% CI) p-value 0.022 (dominant), rs1051266 (SLC19A1) having OR 3.461 (2.136-5.609 at 95% CI) p-value 0.000000466 (dominant), rs2229080 (DCC) having OR 0.6867 (0.5123-0.9205 at 95% CI) p-value 0.0116 (allelic) and rs2298881 (ERCC1) having OR 0.669 (0.46-0.973 at 95% CI), p-value 0.035 (additive) respectively. The in-silico analysis was further used to fortify the above findings.ConclusionIt is further anticipated that the variants should be evaluated in other population groups that may aid in understanding the genetic complexity and bridge the missing heritability.
| S-EPMC7487711 | biostudies-literature
Project description:AimsMuch of the diabetes burden is caused by its complications. This cross-sectional study aimed to determine the prevalence and risk factors for diabetic microvascular complications (retinopathy, nephropathy, and neuropathy) in a high-risk population.MethodsWe collected information via a structured questionnaire and directly from the patient's record on 1034 adult type 2 diabetic patients who were attending outpatient clinics in Qatar.ResultsThe mean age of the patients was 55 ± 10 years, and the mean duration of diabetes was 12.4 ± 8.9 years. Forty-five percent had one or more microvascular complications. Shared risk factors for multiplicity and for individual complications included family history, severity and duration of diabetes, and hypertension, but some risk factors were specific for individual microvascular complications. Early age at onset of diabetes was strongly associated with multiplicity of complications (P = 0.0003).ConclusionsAbout half the diabetics in this high-risk population had one or more microvascular complications. Several well-established risk factors were associated with multiplicity and individual microvascular complications, but each separate microvascular complication was linked to a somewhat different constellation of risk factors.
| S-EPMC6051261 | biostudies-literature
Project description:BackgroundLeprosy is a chronic infectious disease caused by Mycobacterium leprae and mainly affects skin, peripheral nerves. Vitamin D receptor (VDR) gene polymorphism has been found to be associated with leprosy. Vitamin D has been shown to control several host immunomodulating properties through VDR gene. Vitamin D deficiency was also found to be linked to an increased risk for several infections and metabolic diseases.ObjectiveIn the present study, we investigated the association of VDR gene polymorphism, mRNA gene expression of VDR and the vitamin D levels with leprosy and its reactional states.MethodologyA total of 305 leprosy patients consisting of tuberculoid (TT), borderline tuberculoid (BT), borderline lepromatous (BL), lepromatous leprosy (LL), as well as 200 healthy controls were enrolled in the study. We identified single nucleotide polymorphisms (SNPs) of VDR Taq1, Fok1 and Apa1, as well as the expression of VDR mRNA gene using PCR-based restriction fragment length polymorphism (RFLP) analysis and real-time PCR respectively. We also performed ELISA to measure vitamin D levels.ResultWe observed that SNP of VDR gene (Fok1 and Taq1) are associated with the leprosy disease. The allelic frequency distribution of T and t allele (p = 0.0037), F and f allele (p = 0.0024) was significantly higher in leprosy patients and healthy controls. ff genotype of Fok1 was found to be associated with leprosy patients [p = 0.0004; OR (95% CI) 3.148 (1.662-5.965)]. The recessive model of Fok1 genotype was also found to be significantly associated in leprosy patients in comparison to healthy controls [p = 0.00004; OR (95% CI) 2.85 (1.56-5.22)]. Leprosy patients are significantly associated with t-F-a haplotype. Further, VDR gene expression was found to be lower in non-reaction group compared to that of reaction group of leprosy and healthy controls. Paradoxically, we noted no difference in the levels of vitamin D between leprosy patients and healthy controls.ConclusionBlood levels of vitamin D do not play any role in clinical manifestations of any forms of leprosy. ff genotype of Fok1 and tt genotype of Taq1 was found to be associated with leprosy per se. Association of t-F-a haplotype with leprosy was found to be significant and could be used as a genetic marker to identify individuals at high risk for developing leprosy. VDR gene expression was lower in TT/BT and BL/LL groups of leprosy in comparison to that of healthy controls.
| S-EPMC6286024 | biostudies-literature
Project description:Background and purposeStroke is a multifactorial disease influenced by both genetic and environmental factors. The aim of this case-control study was to determine the association between β-fibrinogen C148T (rs1800787) gene polymorphism and susceptibility to ischemic stroke (IS) in a North Indian population.MethodsIn the present case-control study, genotyping was performed using the PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) method on 250 IS patients and 250 age- and sex-matched controls. Frequency distributions of genotypes and alleles were compared between the cases and controls by conditional logistic regression.ResultsHypertension, diabetes, dyslipidemia, low socioeconomic status, and family history of stroke were found to be independent risk factors for IS. The mean age of the cases and controls was 52.83 ± 12.59 and 50.97 ± 12.70 years, respectively. Multivariate logistic regression analysis showed an independent association between β-fibrinogen C148T (rs1800787) polymorphism and risk of IS in dominant (OR = 2.19; 95% CI 1.23-3.90; p = 0.007) and allelic (OR = 1.66; 95% CI 1.19-2.33; p = 0.002) models. Based on the Trial of Org 10172 in Acute Stroke Treatment (TOAST) classification, an independent association of small vessel disease with risk of IS was observed in the dominant (OR = 2.09; 95% CI 1.10-3.96; p = 0.02) and allelic (OR = 1.75; 95% CI 1.12-2.75; p = 0.01) models, and a significant association of cardioembolic stroke with risk of IS was seen in the allelic model (OR = 2.11; 95% CI 1.07-4.17; p = 0.02). All the genotype frequencies observed were in accordance with Hardy-Weinberg equilibrium in both cases and controls.ConclusionThe findings of the present study suggest that polymorphism in the C148T position of the β-fibrinogen gene might be a risk factor for IS mainly for the small vessel disease stroke subtype in a North Indian population. Further, large prospective studies are required to confirm these findings.
| S-EPMC5290428 | biostudies-literature
Project description:Studies in European populations have contributed to a better understanding of the genetics of complex diseases, for example, in coeliac disease (CeD), studies of over 23 000 European samples have reported association to the HLA locus and another 39 loci. However, these associations have not been evaluated in detail in other ethnicities. We sought to better understand how disease-associated loci that have been mapped in Europeans translate to a disease risk for a population with a different ethnic background. We therefore performed a validation of European risk loci for CeD in 497 cases and 736 controls of north Indian origin. Using a dense-genotyping platform (Immunochip), we confirmed the strong association to the HLA region (rs2854275, P=8.2 × 10(-49)). Three loci showed suggestive association (rs4948256, P=9.3 × 10(-7), rs4758538, P=8.6 × 10(-5) and rs17080877, P=2.7 × 10(-5)). We directly replicated five previously reported European variants (P<0.05; mapping to loci harbouring FASLG/TNFSF18, SCHIP1/IL12A, PFKFB3/PRKCQ, ZMIZ1 and ICOSLG). Using a transferability test, we further confirmed association at PFKFB3/PRKCQ (rs2387397, P=2.8 × 10(-4)) and PTPRK/THEMIS (rs55743914, P=3.4 × 10(-4)). The north Indian population has a higher degree of consanguinity than Europeans and we therefore explored the role of recessively acting variants, which replicated the HLA locus (rs9271850, P=3.7 × 10(-23)) and suggested a role of additional four loci. To our knowledge, this is the first replication study of CeD variants in a non-European population.
| S-EPMC4666579 | biostudies-literature
Project description:BackgroundA number of studies evaluated the association of intracellular adhesion molecule-1 (ICAM-1) K469E (rs5498, A/G) gene polymorphism with diabetic microvascular complications (DMI) including diabetic nephropathy (DN) and diabetic retinopathy (DR) in different populations. However, the results of individual studies remain conflicting.MethodsA comprehensive search was conducted to identify all eligible studies of the above-mentioned associations. The pooled odds ratios (ORs) and 95% confidence intervals (CIs) were assessed using the fixed or random effect model.ResultsSeven studies involving 3411 subjects were included. Overall, the meta-analysis showed a significant association of the A allele with increased risk of DMI susceptibility in a recessive model (OR = 1.37, 95% CI 1.04-1.80, P = 0.02). In the subgroup analysis stratified by ethnicity, significant association was found in Asians but not in Caucasians (OR = 1.78, 95% CI 1.13-2.81, P = 0.01; OR = 1.10, 95% CI 0.79-1.54, P = 0.58, respectively). Moreover, it showed a significant association between the A allele and risk of DN in a recessive model (OR = 1.25, 95% CI 1.02-1.55, P = 0.04).ConclusionsThis meta-analysis suggested that the K469E polymorphism in ICAM-1 gene might affect individual susceptibility to DMI and showed a discrepancy in different ethnicities. Further investigations are needed to validate the association.
| S-EPMC3724680 | biostudies-literature