scholarly journals Association of Interleukin 7 Receptor (rs1494555 and rs6897932) Gene Polymorphisms with Asthma in a North Indian Population

2015 ◽  
Vol 6 (3) ◽  
pp. ar.2015.6.0137 ◽  
Author(s):  
Shweta Sinha ◽  
Jagtar Singh ◽  
Surinder Kumar Jindal
Keyword(s):  
Indian Population ◽  
Receptor Gene ◽  
Significant Risk ◽  
Nucleotide Polymorphisms ◽  
North Indian Population ◽  
Protective Association ◽  
Interleukin 7 ◽  
Increased Risk ◽  
Α Chain ◽  
Primer Polymerase Chain Reaction

Background Interleukin 7R (IL-7R), a cytokine receptor gene, plays an important role in the development of innate and adaptive inflammatory response in asthma etiology. Objective IL-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. Methods A 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. Results Statistical 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). Conclusions The 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.

Variation at Interleukin-10 Locus Represents Susceptibility to Psoriasis in North Indian Population

2019 ◽  
Vol 19 (1) ◽  
pp. 53-58 ◽  
Author(s):  
Wani Aadil ◽  
Rajinder Kaur ◽  
Bashir Ahmad Ganai ◽  
Tahseena Akhtar ◽  
Tarun Narang ◽  
...  
Keyword(s):  
Indian Population ◽  
Significant Risk ◽  
Serum Levels ◽  
Interleukin 10 ◽  
North Indian Population ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Anti Inflammatory Cytokine ◽  
Psoriasis Severity

Background: IL-10 is an important pleiotropic, immunoregulatory and anti-inflammatory cytokine which plays a significant role in the pathogenesis of psoriasis. Objective: The aim of the present study was to determine whether the three polymorphic sites of the IL-10 gene, haplotype and serum level confer susceptibility to psoriasis. Method: 200 psoriatic patients and 200 controls were genotyped for three IL-10 polymorphic sites by ARMS polymerase chain reaction. Serum levels of IL -10 were measured by ELISA. Results: Our results demonstrated that polymorphism of IL-10 -592 C/A (adjusted* OR = 9.25; 95% CI =3.16- 27.06) and IL-10 1082 A/G (adjusted* OR = 4.28; (95% CI =1.46- 12.56) was found to be in association with increased risk of psoriasis while as IL- 10 819 C/T (adjusted* OR= 1.60; (95% CI = 0.65-3.95) polymorphism does not show any significant association with the risk of psoriasis. HT7 GTC haplotype is associated with increased risk of psoriasis. Serum levels of IL-10 were found to be significantly low in patients, as compared to controls with a non-significant correlation between serum IL-10 level and psoriasis severity. Conclusion: IL-10 polymorphism imparted significant risk towards the development of psoriasis in North Indian population. Highlighting the role of IL-10 cytokine in the pathogenesis of psoriasis will help in the development of psoriasis management.

scholarly journals Association of Prolactin and Its Receptor Gene Regions with Familial Breast Cancer

2006 ◽  
Vol 91 (4) ◽  
pp. 1513-1519 ◽  
Author(s):  
Annika Vaclavicek ◽  
Kari Hemminki ◽  
Claus R. Bartram ◽  
Kerstin Wagner ◽  
Barbara Wappenschmidt ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Variation ◽  
Receptor Gene ◽  
Academic Research ◽  
Nucleotide Polymorphisms ◽  
Promoter Regions ◽  
Increased Risk ◽  
Human Mammary Tumors ◽  
Variant Alleles

Context: The contribution of prolactin (PRL) through its receptor (PRLR) to the pathogenesis and progression of human mammary tumors has received recent attention. Objective: We investigated whether genetic variation in the PRL and PRLR genes is associated with the risk of breast cancer (BC). Design: We conducted a case-control study with a total of seven single nucleotide polymorphisms (SNPs). Setting: The study was conducted at an academic research laboratory and university clinics. Patients and Other Participants: A total of 441 German familial, unrelated BC cases and 552 controls matched by age, ethnicity, and geographical region participated in the study. Intervention(s): There were no interventions. Main Outcome Measures(s): SNP genotype and haplotype distributions and haplotype interactions were correlated with the risk of BC. Results: Two SNPs (rs1341239 and rs12210179) within the PRL promoter regions were significantly associated with increased risk in homozygotes for the variant alleles [odds ratio (OR), 1.67 and 95% confidence interval (CI), 1.11–2.50; and OR, 2.09 and 95% CI, 1.23–3.52, respectively]. The PRL haplotype containing the variant alleles of the promoter SNPs increased significantly the risk of BC (OR 1.42, 95%CI 1.07–1.90). A PRLR haplotype was associated with a significant decrease in BC risk (OR 0.69, 95% CI 0.54–0.89). An increasing number of PRL and PRLR risk haplotypes led to a significant trend of increasing risk for BC (χ2 = 12.15; P = 0.007). Conclusions: Genetic variation in the PRL and PRLR genes was shown to influence BC risk. Additional studies are needed to further clarify the role of the PRL and PRLR genes in the risk of BC.

scholarly journals Association of IL13R Alpha 1 + 1398A/G Polymorphism in a North Indian Population with Asthma: A Case-Control Study

2015 ◽  
Vol 6 (2) ◽  
pp. ar.2015.6.0126
Author(s):  
Shweta Sinha ◽  
Jagtar Singh ◽  
Surinder Kumar Jindal ◽  
Niti Birbian
Keyword(s):  
Indian Population ◽  
Immunoglobulin E ◽  
Airway Hyperreactivity ◽  
Total Serum ◽  
North Indian Population ◽  
Increased Risk ◽  
Asthma Patients ◽  
Polymerase Chain ◽  
Control Study

Background Interleukin 13 (IL13) is directly involved in the secretion of total serum immunoglobulin E (IgE), which plays a major role in the asthma pathogenesis. Objective One of the polymorphic receptor of IL13 is IL13Rα1, which after binding to IL13, initiates signal transduction that results in mucin secretion, airway hyperreactivity, fibrosis, and chitinase up-regulation, which increases asthma risk. Methods In the present study, the role of IL13Rα1 + 1398A/G gene polymorphisms in asthma was detected with a total of 964 individuals, including 483 healthy controls and 481 asthma patients from a North Indian population using polymerase chain reaction-restriction fragment length polymorphism method. Results Statistical analysis revealed that the mutant allele (G) is predominant in asthma patients (42.7%) than the controls (38.2%), which shows an increased risk toward asthma with odds ratio = 1.21, 95% confidence interval (1.00 −1.45), χ2 = 4.10 and p = 0.043. Furthermore, the phenotypic characteristics also reveal a significant association with the disease (p < 0.05). Conclusions This is the first study conducted in India and + 1398A/G polymorphism in noncoding region of IL13Rα1 confer risk toward asthma in the studied population.

scholarly journals Association of TNFSF4 polymorphisms with systemic lupus erythematosus: a meta-analysis

2021 ◽  
Vol 61 (1) ◽  
Author(s):  
Yu Fu ◽  
Qing Lin ◽  
Zhi-rong Zhang
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Gene Polymorphisms ◽  
Meta Analysis ◽  
Significant Risk ◽  
Cochrane Library ◽  
Nucleotide Polymorphisms ◽  
Systemic Lupus ◽  
Increased Risk ◽  
Tumor Necrosis Factor Ligand

Abstract Objective To more precisely estimate the association between the tumor necrosis factor ligand superfamily member 4 (TNFSF4) gene polymorphisms and systemic lupus erythematosus (SLE) susceptibility, we performed a meta-analysis on the association of the following single nucleotide polymorphisms (SNPs) of TNFSF4 with SLE: rs1234315, rs844648, rs2205960, rs704840, rs844644, rs10489265. Methods A literature-based search was conducted using PubMed, MEDLINE, Embase, Web of Science databases, and Cochrane Library databases to identify all relevant studies. And the association of TNFSF4 gene polymorphisms and SLE susceptibility was evaluated by pooled odds ratio (OR) with 95% confidence interval (CI). Results The meta-analysis produced overall OR of 1.42 (95% CI 1.36–1.49, P < 0.00001), 1.41 (95% CI 1.36–1.46, P < 0.00001) and 1.34 (95% CI 1.26–1.42, P < 0.00001) for the rs2205960, rs1234315 and rs704840 polymorphisms respectively, confirming these three SNPs confer a significant risk for the development of SLE. On the other hand, the meta-analysis produced overall OR of 0.92 (95% CI 0.70–1.21, P = 0.54) for the rs844644 polymorphism, suggesting no significant association. And no association was also found between either rs844648 1.11 (OR 1.11, 95% CI 0.86–1.43, P = 0.41) or rs10489265 (OR 1.17, 95% CI 0.94–1.47, P = 0.17) polymorphism with SLE susceptibility, respectively. Conclusions Our meta-analysis demonstrated that the TNFSF4 rs2205960, rs1234315 and rs844840 SNPs was significantly associated with an increased risk of SLE.

Association study of functional polymorphisms of DNMT3A and DNMT3B genes with breast carcinoma in north Indian population

2015 ◽  
Vol 5 (4) ◽  
pp. 121-126
Author(s):  
Shruti Singh ◽  
Kiran Singh ◽  
Manisha Sachan
Keyword(s):  
Breast Cancer ◽  
Breast Carcinoma ◽  
Single Nucleotide Polymorphisms ◽  
Indian Population ◽  
De Novo ◽  
Nucleotide Polymorphisms ◽  
North Indian Population ◽  
Single Nucleotide ◽  
Functional Polymorphisms ◽  
Genotype Frequencies

  DNMT3A and DNMT3B are de novo methyltransferases which are responsi-ble for de novo methylation patterns of the unmethylated DNA. Two Single nucleotide polymorphisms (SNPs) in these genes i.e. -448A>G in DNMT3A and C46359T in DNMT3B, contribute a lot to the genetic susceptibility to breast cancer. In the present study, we analyzed the genotype frequencies of -448A>G polymorphism of DNMT3A and C46359T polymorphism of DNMT3B in breast cancer patients and healthy control subjects to explore the associa-tion of these single nucleotide polymorphisms with susceptibility to develop breast carcinoma. Genotyping was done by PCR-RFLP. 74 patients and 76 controls were genotyped for the DNMT3A (-448A>G) SNP, whereas 72 pa-tients and 107 controls were screened for DNMT3B (C46359T) polymor-phism. Our study clearly suggest that compared to GG carriers, the DNMT3A-448AA homozygotes had a 2.92 fold risk of developing breast carcinoma whereas for DNMT3B (C46359T) polymorphism, CT & CT+CC genotype carri-ers showed a 1.32 & 1.23 fold risk of developing breast carcinoma respec-tively. In Conclusion, DNMT3A SNP -448A>G contributes to genetic suscepti-bility to breast carcinoma whereas DNMT3B SNP C46359T was not found to be associated with pathogenesis of breast cancer in north Indian population.

Role of the oestrogen receptor (ESR1 PvuII and ESR1 325 C→G) and progesterone receptor (PROGINS) polymorphisms in genetic susceptibility to migraine in a North Indian population

Cephalalgia ◽  
2009 ◽  
Vol 30 (3) ◽  
pp. 311-320 ◽  
Author(s):  
G Joshi ◽  
S Pradhan ◽  
B Mittal
Keyword(s):  
Progesterone Receptor ◽  
Genetic Susceptibility ◽  
Oestrogen Receptor ◽  
Indian Population ◽  
Significant Risk ◽  
Significant Risk Factor ◽  
Protective Role ◽  
Recessive Model ◽  
P Value ◽  
North Indian Population

We aimed to explore the single-locus, haplotype and epistasis patterns and the contribution of oestrogen receptor [ESR1 PvuII (rs2234693), ESR1 325 C→G (rs1801132)] and progesterone receptor [PROGINS (rs1042838)] polymorphisms in genetic susceptibility to migraine by analysing 613 subjects consisting of 217 migraine patients, 217 healthy controls (HC) and 179 patients with tension-type headache (TTH). Entire data were analysed by taking the Bonferroni corrected P-value into account. We found significant association of TT genotype [odds ratio (OR) 3.458, confidence interval (CI) 1.757, 6.806; P = 0.0003] and T allele (OR 1.729, CI 1.309, 2.284; P = 0.0001) of ESR1 PvuII single nucleotide polymorphism with migraine when compared with HC. Significant association was seen only in female migraine patients at both genotype ( P = 0.002; OR 3.834, CI 1.625, 9.043) and allele level ( P = 0.002; OR 1.721, CI 1.228, 2.413). Moreover, higher risk was limited to migraine with aura (MA) (in case of TT genotype, P = 0.002; OR 4.377, CI 1.703, 1.246; in case of T allele, P = 0.001; OR 1.888, CI 1.305, 2.735) rather than migraine without aura (MoA) ( P-value of TT genotype = 0.003; OR 3.082, CI 1.465, 6.483; P-value T allele = 0.002; OR 1.630, CI 1.188, 2.236). In case of a recessive model, risk was seen with migraine patients ( P = 0.0003; OR 2.514, CI 1.635, 3.867), MA ( P = 0.0001; OR 3.583, CI 1.858, 6.909) and MoA patients ( P = 0.002; OR 2.125, CI 1.304, 3.464) when compared with HC. No risk was observed when TTH patients were compared with HC. No significance of ESR 325 G→C polymorphism was seen in any of the models under study. Significant differences in genotypic ( P = 0.0001) and allelic frequency ( P = 0.0002) were seen in case of PROGINS polymorphism when migraine patients were compared with HC, showing a protective effect (for A1A2 genotype, OR 0.292, CI 0.155, 0.549; for A2 allele, OR 0.320, CI 0.174, 0.589). Moreover, significance was seen only in case of female migraine patients at genotype ( P = 0.002; OR 0.344, CI 0.176, 0.684) as well as allele levels ( P = 0.004; OR 0.379, CI 0.198, 0.727) in case of PROGINS polymorphism. ESR1 PvuII TT*ESR1 325 C→G CG genotype, PROGINS A1A2*ESR1 325 C→G CG genotype and ESR1 PvuII CT*PROGINS A1A2 interacted significantly, but significance was lost after Bonferroni correction. In conclusion, ESR1 PvuII polymorphism is a significant risk factor for migraine particularly in women and MA patients, but ESR 325 C→G polymorphism is not associated with migraine susceptibility. PROGINS polymorphism seems to play a protective role in genetic susceptibility to migraine in the North Indian population.

Intron-specific Single Nucleotide Polymorphisms of Fat Mass and Obesity- Associated Gene in Obese and Overweight Individuals of the Indian Adult Population- A Pilot Study

2019 ◽  
Vol 16 (1) ◽  
pp. 84-94
Author(s):  
Aakash Reddy ◽  
Katari Venkatesh ◽  
Sayani Sahu ◽  
Pallavi Sinha Roy ◽  
Konkona Datta ◽  
...  
Keyword(s):  
Pilot Study ◽  
Single Nucleotide Polymorphisms ◽  
Fat Mass ◽  
Indian Population ◽  
Detection System ◽  
Adult Population ◽  
Genotypic Frequency ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk

Background: The Fat mass and obesity-associated gene (FTO) and its involvement in weight gain and obesity is well-known. However, no reports have been published on the Indian population regarding the relationship between single nucleotide polymorphisms (SNPs) in its intronic region and obesity. The aim of this pilot study was to evaluate the frequency and association of SNPs in intron-1 of the FTO gene in obese and overweight Indian adults. Methods: This study group consisted of 80 adults, aged 23.5 ± 8.9 yr, with a mean BMI of 28.8 ± 6.2 kg/m2. Genomic DNA was isolated, exons1-3 & intron1 of FTO were amplified using polymerase chain reaction and sequenced by ABI sequencing detection system. The reported SNPs rs1420185, rs8050136, rs1121980 and rs55872725 were checked for their presence or absence in this group of the adult Indian population. Results: No mutations were found in the exonic sequence of FTO, however, the association of rs1420185, rs8050136, rs1121980 and rs55872725 SNPs was identified in this population. The genotypic frequency at FTO rs8050136 was 32.2% for C>A, at rs55872725 it was 45.7% for C>T, at rs1420185 it was 27.1% for T>C and at rs1121980 it was 30.5% for G>A. All four SNPs in combination were observed in 6 participants (10.2%), all of whom were found to be either obese or overweight. Conclusion: These findings indicate that Indians with these SNPs are most likely to be at increased risk of obesity.

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