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Association of vitamin D receptor gene polymorphisms in North Indian children with asthma: a case-control study.

ABSTRACT: Asthma is a complex genetic disease. Vitamin D and vitamin D receptor (VDR) gene polymorphisms are involved in asthma pathogenesis. However, accurate inflammatory mechanisms and their role in VDR gene polymorphisms are unclear. The objective of this study was to investigate the association of VDR gene polymorphisms, ApaI, FokI, TaqI, and BsmI with asthma as compared to controls. Children (age 5-15 years) with a history of respiratory symptoms (wheeze, shortness of breath and chest tightness) were recruited as cases. Age matched children admitted with central nervous system disorders (encephalitis/seizures) without any respiratory complaints were recruited as controls after parental consent. Children with a clinical diagnosis of cystic fibrosis, congenital heart disease and whose parents did not consent for participation in the study were excluded. VDR gene polymorphisms were genotyped using PCR-RFLP method. One hundred and sixty asthmatics and one hundred controls were enrolled in this study. Mean age of the cases was 103.29±32.7 months and controls 94.24±30.52 months. Children with heterozygous (AC) genotype [OR=1.83, 95% CI=1.01-3.32, p=0.046] of ApaI polymorphism were found to be associated with the risk of asthma. Our findings suggest that ApaI polymorphism of VDR gene may contribute to asthma susceptibility among children.

SUBMITTER: Awasthi N

PROVIDER: S-EPMC8166730 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Association of interleukin 7 receptor (rs1494555 and rs6897932) gene polymorphisms with asthma in a north Indian population.

Project description:BackgroundInterleukin 7R (IL-7R), a cytokine receptor gene, plays an important role in the development of innate and adaptive inflammatory response in asthma etiology.ObjectiveIL-7R is a heterodimeric protein composed of α chain and γ chain. The α chain of IL-7R has a range of single nucleotide polymorphisms, which give rise to nonsynonymous amino-acid substitutions that might result in an increased production of inflammatory cytokines and cause asthma.MethodsA case-control study was conducted with a total of 964 subjects, including 483 healthy controls and 481 patients with asthma. DNA samples were extracted from blood, and genotyping was done by using sequence-specific-primer-polymerase chain reaction.ResultsStatistical analysis revealed that IL-7R + 1237A/G (rs1494555) gene polymorphism shows a highly protective association toward asthma (odds ratio [OR] 0.56, p < 0.001) in AG genotype as well as in mutant GG genotype (OR 0.64, p = 0.029). However, IL-7R + 2087T/C (rs6897932) polymorphism showed an increased risk toward asthma in TC genotype (OR 1.70, p = 0.002) as well as in the CC genotype (OR 1.68, p = 0.002). Furthermore, the GT and AC haplotypes in the IL-7R polymorphisms were also found to be significantly associated with asthma (p < 0.001 and p = 0.037, respectively).ConclusionsThe study conducted in a north Indian population indicated that the protective association was observed for the +1237A/G position, and a significant risk was observed for the +2087T/C position in asthma.

| S-EPMC5391485 | biostudies-literature

Association of vitamin D receptor gene polymorphisms and vitamin D levels with asthma and atopy in Cypriot adolescents: a case-control study.

Project description:BackgroundPolymorphisms in the vitamin D receptor (VDR) gene have been studied in immune-related disorders either as independent contributors or in combination with vitamin D concentration. Vitamin D and VDR have been independently linked to asthma susceptibility. We investigated whether VDR variants were associated independently or in relation to vitamin D levels with asthma in Cypriot adolescents.MethodsWe studied 190 current wheezers, 69 of which were categorized as active asthmatics and 671 healthy controls. We determined three VDR genotypes (BsmI, TaqI, ApaI) and measured serum 25(OH)D levels. Logistic regression and stratified analyses by the presence of hypovitaminosis D (≤20 ng/ml) were used to evaluate the association of the VDR variants with asthma.ResultsThe distribution of TaqI genotypes was significantly different between controls and current wheezers (p = 0.030) or active asthmatics (p = 0.014). The tt genotype was over-represented in wheezers (19.2 %) and asthmatics (21.3 %) compared to respective controls (12.9 %). No difference was observed between controls, current wheezers and active asthmatics in the genotypic distribution of BsmI and ApaI polymorphic sites. After stratification by the presence of hypovitaminosis D, a significant association was detected between tt genotype of TaqI polymorphism with wheezing (OR: 1.97, 95 % CI: 1.12, 3.46) and asthma (OR: 2.37, 95CI%: 1.02, 5.52) only in those with normal vitamin D levels (>20 ng/ml) but not in subjects with low vitamin D.ConclusionsThe minor TaqI genotype of VDR is associated with asthma in Cypriot adolescents. This polymorphism may contribute to asthma susceptibility primarily under conditions of normal vitamin D levels (>20 ng/ml).

| S-EPMC4559891 | biostudies-literature

Association study between vitamin D receptor gene polymorphisms and asthma in the Chinese Han population: a case-control study.

Project description:BackgroundModulation of the immune system is one of the principal roles of Vitamin D, for which the effects are exerted via the vitamin D receptor (VDR). Importantly, variants in the VDR gene have been susceptible in the past to raise the risk of asthma in several populations. These effects of VDR allelic markers remain speculative in the Chinese Han population.ResultsA case-control study of 1090 individuals including 567 asthmatic patients was realized on five SNPs within the VDR gene. Only rs7975232 (ApaI) marker showed a significant association with asthma (P = 0.009). Haplotype analysis of the five VDR polymorphisms showed a significant association with asthma (global-p value = 0.012).ConclusionAlthough the susceptibility of VDR gene variants with asthma could not be confirmed for all SNPs tested in this study, the significant association obtained for rs7975232 provides evidence for a previously unknown report about the Chinese Han population and may raise the susceptibility of VDR to be a candidate gene for asthma.

| S-EPMC2720948 | biostudies-literature

The Vitamin D Receptor Gene Polymorphisms in Asthmatic Children: A Case-Control Study.

Project description:Background: The association between vitamin D receptor (VDR) polymorphisms and the risk of asthma remains unclear. This study aimed to investigate the effect of VDR gene polymorphisms and VDR mRNA expression levels on respiratory function, nitric oxide levels in expiratory air, and serum vitamin D levels in children with asthma. Materials and Methods: The study included 80 healthy children (control group) and 100 asthmatic children (asthma group) between the age of 5 and 18 years. The VDR genotypes (ApaI, TaqI, and FokI) and VDR mRNA levels were determined in all groups. Results: There was no statistically significant difference in vitamin D levels between the asthma group and the control group (P?>?0.05). A significant association was found between both genotype (CC) of the TaqI polymorphism [odds ratio (OR)?=?0.2, 95% confidence interval (CI) (0.07-0.5), P?=?0.003] and genotype (CA) of ApaI polymorphisms [OR?=?0.2, 95% CI (0.07-0.8), P?=?0.02], and asthma risk. In addition, when single-nucleotide polymorphism allelic frequencies between asthma and control groups were compared there is no significant association (P?>?0.05). When compared to control group, VDR mRNA expression in asthma group decreased in genotypes CC and CA of ApaI and in genotypes TT and TC of TaqI (P?<?0.05). Conclusion: The results provide supporting evidence for an association between TaqI and ApaI polymorphisms and asthma susceptibility.

| S-EPMC6733045 | biostudies-literature

Role of <i>VDR</i> gene polymorphisms with community acquired pneumonia in North Indian children: a case-control study.

Project description:Community-acquired pneumonia (CAP) is a leading cause of death in children under five years of age globally. Currently, the vitamin D receptor (VDR) gene is an emerging factor that regulates inflammatory pathways that may alter the response to infections and possibly modify the outcome of CAP. The objective of this study was to investigate the association of VDR gene polymorphisms ApaI, FokI, TaqI, BsmI with CAP in children aged 2-59 months. Hospitalized children aged (2-59 months) with WHO-defined CAP were included as cases after parental consent. Age-matched healthy controls were recruited from the immunization clinic of the hospital within one week of the recruitment of the case. Children with a clinical diagnosis of cystic fibrosis and congenital heart disease were excluded. Four VDR gene polymorphisms, ApaI, FokI, TaqI, BsmI were genotyped by using PCR-RFLP. From Oct-2016 to Oct-2019, 160 cases (34.37% females) and 160 controls (47.5% females) were recruited. Mean age of the cases was 26.30±23.10 months and controls 25.93±15.99 months. In FokI (rs2228570 polymorphism, heterozygous genotype (CT) [OR=2.06, 95% CI=1.25-3.39, P=0.00] and mutant allele (T) [OR=1.45, 95% CI=1.06-2.00, P=0.02] were found to be associated with the risk of CAP. In VDR gene, FokI polymorphism predisposes to CAP in Indian children.

| S-EPMC8044708 | biostudies-literature

Association of vitamin D receptor gene polymorphisms with metabolic syndrome: a case-control design of population-based cross-sectional study in North China.

Project description:BackgroundMetabolic syndrome (MS) increases a risk of developing cardiovascular disease (CVD) and type 2 diabetes mellitus (T2DM). The Vitamin D Receptor gene (VDR) may be important for developing MS. The aim of this study is to investigate the correlation between the VDR gene polymorphisms and MS in North China.MethodsA case-control study included 391 participants with MS according to the MS diagnostic criteria of International Diabetes Federation 2005 (IDF2005) and 400 controls was conducted on the basis of a cross sectional study which was performed from 2008 to 2012 in Ningxia Hui Autonomous Region, China. Anthropometric data, blood pressure and blood samples were collected in the field investigation. Blood biochemistry analyses were carried out in the laboratory. Two single-nucleotide polymorphisms (SNPs) in the VDR gene, BsmI (rs1544410 A > G) and FokI (rs 2228570 C > T), were genotyped.ResultsThe difference in the occurrence of genotypes in BsmI between individuals with MS and the control group was significant. Compared with genotype Bb/bb and allele b, genotype BB and allele B showed higher frequencies in MS cases than controls, which suggested they were risk factors. In addition, the genotype BB carriers with MS presented a higher waist circumference, while genotype FF for the FokI polymorphism was correlated with lower BMI in subjects with MS.ConclusionOur study suggests that the VDR gene polymorphisms appear to be associated with MS in the Northern Chinese population. Allele B and BB genotype for BsmI are risk factors for MS. The BsmI polymorphism seems to influence waist circumference, while the FokI polymorphism influence BMI in subjects with MS.

| S-EPMC4245744 | biostudies-literature

Effects of genetic polymorphisms in Vitamin D metabolic pathway on Vitamin D level and asthma control in South Indian patients with bronchial asthma.

Project description:Objectives:The study was designed to evaluate the single-nucleotide polymorphisms (SNPs) of genes involved in Vitamin D actions (rs2228570) and metabolic pathways (rs2248137 and rs10766197) and their associations with serum 25-hydroxy Vitamin D (25(OH)D) level and asthma control in South Indian patients with bronchial asthma. Materials and Methods:One hundred and two patients of South Indian origin with bronchial asthma either naive to inhaled corticosteroids (ICSs) or not receiving ICS for ?1 month were included and were treated with ICS (beclomethasone 200 ?g twice daily) for 8 weeks. One hundred and one unrelated healthy South Indians were used as controls. Pulmonary function test and fractional exhaled nitric oxide were used to assess asthma control. Serum 25(OH)D levels (chemiluminescence immunoassay) and SNPs in Vitamin D pathway (real-time polymerase chain reaction) were assessed. The associations of SNPs and serum 25(OH)D with asthma control was determined using linear regression. All analyses were performed using SPSS (version 19) and "SNPStats." P < 0.05 was considered as statistically significant. Results:Vitamin D receptor (VDR) polymorphism (rs2228570) was found to be protective against asthma (P = 0.022), while there were no significant associations between the other two SNPs and asthma. Similarly, poor correlation and insignificant associations between the SNPs and serum 25(OH)D levels were observed in both cases and controls. There were also insignificant associations between the SNPs and asthma control. Conclusion:VDR polymorphism (rs2228570) was found to be protective against asthma in South Indians, while other genes involved in the metabolic pathway of Vitamin D did not show associations with asthma.

| S-EPMC6852217 | biostudies-literature

Case-control association analysis of dopamine receptor polymorphisms in alcohol dependence: a pilot study in Indian males.

Project description:BackgroundBrain imaging studies and knock-out animal models have derived substantial abetment for dopamine receptor (DR) subtypes as potential candidates in susceptibility to addictive disorders, including alcohol dependence (AD). Various association studies that compared the frequencies of alleles of the dopamine D1, D2, D3 and D4 receptor genes between alcohol dependent and control subjects have produced suggestive results, though some of them are discordant in nature. In the absence of genetic data from Indian population, we evaluated genetic association of three polymorphisms namely rs4532 in DRD1, rs6280 in DRD3 and 120 bp duplication in 1.2 kb upstream region of DRD4 with AD.MethodsA total of 90 cases (alcohol dependent males) and 122 age and ethnicity matched healthy male controls were recruited in the study by following DSM-IV criteria. Three polymorphisms, namely rs4532 in DRD1, rs6280 in DRD3 and 120 bp duplication in 1.2 kb upstream region of DRD4 were selected (based on minor allele frequency and available literature) for genotyping by PCR-RFLP/LP method. Allele and genotype frequencies of these genetic markers were compared using Pearson's χ2 test followed by risk assessment using odds ratio. Statistical analysis of clinical parameters such as AUDIT scores of case subjects was also performed.ResultsStatistically significant associations of polymorphisms in DRD1 and DRD4 with alcoholism were found.ConclusionsOur results underscore that genetic variations in dopamine receptors D1 and D4 may influence genetic predisposition to alcoholism. Unavailability of comparative data from Indian population and small sample size necessitate replication of results in an independent cohort.

| S-EPMC3853477 | biostudies-literature

Association of vitamin D gene polymorphisms in children with asthma - A systematic review.

Project description:IntroductionThe association of Vitamin D and children with asthma is known and there are several individual studies on Vitamin D polymorphisms. However, systematic reviews on all vitamin D associated gene polymorphisms have not been done in children with asthma.ObjectiveTo investigate the association of Vitamin D associated gene polymorphisms and asthma in children (0-18 years) by systematic review and meta-analytic approach.MethodsOur search included 20 full text articles of which 15 were case control studies and 5 used family based linkage disequilibrium method. Total of 2491cases and 3682 controls were included in case control studies, with mean age of 9.58 years and 10.16 years respectively. Quantitative and qualitative analysis were done.ResultsQuantitative analysis revealed significant association with protective effect of Apa1 polymorphism in allele (OR 0.81 (0.71,0.91) and homozygous major form (OR 0.83 (0.70,0.98) and Taq 1 minor allele in homozygous form (OR 0.73 (0.58,0.92) in children with asthma. However, the minor allele of Apa1(OR 1.21 (1.07,1.37), Bsm 1 in heterozygous (OR 1.35 (1.07,1.71) and homozygous minor form (OR 1.95 (1.59,2.39), major allele of Fok1(OR1.34 (1.17,1.52) and Taq1 (OR 1.22 (1.08,1.38) were found to be increasing the odds of asthma. Ethnic variations were noted in subgroup analysis. Qualitative analysis of the polymorphisms of the Vitamin D associated metabolic genes also showed significant associations.ConclusionOur review shows significant associations with VDR polymorphisms - Apa1, Bsm1, Fok 1, Taq 1, polymorphisms of Vitamin D metabolic genes - CYP27A1, CYP 2R1, CYP 24A1, GC and genes related to Vitamin D response element (VDRE) in children with asthma. Conducting large studies involving various ethnic regions will strengthen our knowledge on the association and aid in targeted interventions for control of asthma in children.

| S-EPMC7479342 | biostudies-literature

Association of vitamin D receptor gene polymorphisms with polycystic ovary syndrome among Indian women.

Project description:Background & objectivesThe Vitamin-D receptor (VDR) regulates vitamin D levels and calcium metabolism in the body and these are known to be associated with endocrine dysfunctions, insulin resistance and type-2 diabetes in polycystic ovarian syndrome (PCOS). Studies on VDR polymorphisms among PCOS women are sparse. We undertook this study to investigate the association pattern of VDR polymorphisms (Cdx2, Fok1, Apa1 and Taq1) with PCOS among Indian women.MethodsFor the present study, 250 women with PCOS and 250 normal healthy control women were selected from Hyderabad city, Telangana, India. The four VDR polymorphisms were genotyped and analysed using ASM-PCR (allele specific multiple PCR) and PCR-RFLP (restriction fragment length polymorphism).ResultsThe genotype and allele frequency distributions of only Cdx2 showed significant difference between the PCOS cases and control women, indicating protective role of this SNP against PCOS phenotype. However, significant association was observed between VDR genotypes and some of the PCOS specific clinical/biochemical traits. For example, Fok1 showed a significant genotypic difference for the presence of infertility and Cdx2 genotpes showed association with testosterone levels. Further, the two haplotypes, ACCA and ACTA, were found to be significantly associated with PCOS indicating haplotype specific risk.Interpretation & conclusionsAlthough VDR polymorphisms have not shown significant association with PCOS, in view of functional significance of the SNPs considered, one cannot yet rule out the possibility of their association with PCOS. Further, specifically designed studies on large cohorts are required to conclusively establish the role of VDR polymorphisms in PCOS, particularly including data on vitamin D levels.

| S-EPMC4669862 | biostudies-literature

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