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

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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Single nucleotide polymorphisms at interleukin (IL)-1β + 3954 and vitamin D receptor (VDR) TaqI in chronic periodontitis patients: A pilot study in North Indian population

Journal of the International Clinical Dental Research Organization ◽

10.4103/2231-0754.153490 ◽

2015 ◽

Vol 7 (1) ◽

pp. 18 ◽

Cited By ~ 4

Author(s):

Anika Daing ◽

MohammadAkhlaq Khan ◽

SarvendraVikram Singh ◽

CharanjeetSingh Saimbi ◽

SrikantaKumar Rath

Keyword(s):

Vitamin D ◽

Pilot Study ◽

Single Nucleotide Polymorphisms ◽

Vitamin D Receptor ◽

Chronic Periodontitis ◽

Indian Population ◽

Nucleotide Polymorphisms ◽

North Indian Population ◽

Single Nucleotide

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The single nucleotide polymorphisms inBRAPdecrease the risk of metabolic syndrome in a Chinese young adult population

Diabetes and Vascular Disease Research ◽

10.1177/1479164112455535 ◽

2012 ◽

Vol 10 (3) ◽

pp. 202-207 ◽

Cited By ~ 8

Author(s):

Lijun Wu ◽

Bo Xi ◽

Dongqing Hou ◽

Xiaoyuan Zhao ◽

Junting Liu ◽

...

Keyword(s):

Metabolic Syndrome ◽

Young Adult ◽

Single Nucleotide Polymorphisms ◽

Adult Population ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Young Adult Population

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Candidate Genes of the 5-Lipoxygenase Pathway in Acute Coronary Syndrome: A Pilot Study

Biological Research For Nursing ◽

10.1177/1099800407313385 ◽

2008 ◽

Vol 9 (4) ◽

pp. 280-292 ◽

Cited By ~ 3

Author(s):

Shu-Fen Wung ◽

Bradley E. Aouizerat

Keyword(s):

Acute Coronary Syndrome ◽

Pilot Study ◽

Nucleotide Polymorphisms ◽

Common Allele ◽

Lipoxygenase Pathway ◽

Single Nucleotide ◽

Coronary Syndrome ◽

Increased Risk ◽

Caucasian Patients ◽

Alox5ap Gene

Purpose. The purpose of this pilot study was to examine arachidonate 5-lipoxygenase (ALOX5) and ALOX5-activating protein (ALOX5AP) gene variations in patients with and without acute coronary syndrome (ACS). Methodology. Four and six single nucleotide polymorphisms spanning the ALOX5 and ALOX5AP genes, respectively, were genotyped in 19 non-Hispanic Caucasian patients with ACS and 27 controls. Results. Presence of the common allele of rs9508835 (ALOX5AP) and the minor allele of rs2029253 (ALOX5) were associated with ACS. After adjustment for age, being a carrier of the rs9508835 common allele was associated with an increased risk of ACS (odds ratio = 2.86). Relevance for nursing practice. Through the inhibition of the ALOX5AP gene by downregulation of the leukotriene pathway, the risk of ACS may be decreased in individuals that carry susceptibility allele(s). Knowledge of the genetic basis of treatments that downregulate the leukotriene pathway may prove essential to the care of individuals with ACS.

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Association of single nucleotide polymorphisms in the fatty acid synthase, LOC514211, and fat mass and obesity-associated genes with milk traits in Indonesian-Holstein dairy cattle

Veterinary World ◽

10.14202/vetworld.2019.1160-1166 ◽

2019 ◽

Vol 12 (7) ◽

pp. 1160-1166

Author(s):

Amalia Puji Rahayu ◽

Tety Hartatik ◽

Agung Purnomoadi ◽

Edy Kurnianto

Keyword(s):

Fatty Acid ◽

Single Nucleotide Polymorphisms ◽

Fat Mass ◽

Milk Protein ◽

Fatty Acid Synthase ◽

Nucleotide Polymorphisms ◽

Fat Percentage ◽

Fto Gene ◽

Milk Traits ◽

Single Nucleotide

Aim: The study aimed to identify fatty acid synthase (FASN), LOC514211, and fat mass and obesity-associated (FTO) gene polymorphisms and to investigate their associations with milk traits in an Indonesian-Holstein dairy cow population. Materials and Methods: A total of 100 Indonesian-Holstein cows consisting of 50 heads (0th generation; G0) and 50 heads of their daughters (1st generation; G1) were used. Polymerase chain reaction-restriction fragment length polymorphism was performed to genotype three single nucleotide polymorphisms: rs41919985 in the FASN gene, rs42688595 in the LOC514211 gene, and g.1371T>A in the FTO gene. Results: FASN rs41919985 was associated with milk protein percentage (p<0.05), FTO g.1371T>A was associated with milk fat percentage (p<0.05), and LOC514211 rs42688595 was not associated with any trait (p>0.05). Heterozygote variants showed a higher protein percentage for FASN and the highest fat percentage for FTO. These associations were consistent in the G0 and G1 populations. Conclusion: Our results indicate that the milk protein and fat percentages can be improved by increasing the frequency of the AG genotype of FASN and the AT genotype of FTO, respectively.

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A pilot study of single nucleotide polymorphisms in the interleukin-6 receptor and their effects on pre- and post-transplant serum mediator level and outcome after allogeneic stem cell transplantation

Clinical & Experimental Immunology ◽

10.1111/cei.13124 ◽

2018 ◽

Vol 193 (1) ◽

pp. 130-141 ◽

Cited By ~ 2

Author(s):

T. H. A. Tvedt ◽

R. Hovland ◽

G. Tsykunova ◽

A. B. Ahmed ◽

T. Gedde-Dahl ◽

...

Keyword(s):

Stem Cell ◽

Pilot Study ◽

Single Nucleotide Polymorphisms ◽

Stem Cell Transplantation ◽

Cell Transplantation ◽

Allogeneic Stem Cell Transplantation ◽

Interleukin 6 ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Interleukin 6 Receptor

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Single nucleotide polymorphisms and serologic levels of hypoxia-inducible factor1 α and vascular endothelial growth factor are associated with increased risk of oral submucous fibrosis in gutka users among a North Indian population

Oral Surgery Oral Medicine Oral Pathology and Oral Radiology ◽

10.1016/j.oooo.2020.08.003 ◽

2020 ◽

Vol 130 (5) ◽

pp. 557-564

Author(s):

Shalini R. Gupta ◽

Alpana Sharma ◽

Nidhi Gupta ◽

Kalaivani Mani

Keyword(s):

Vascular Endothelial Growth Factor ◽

Indian Population ◽

Oral Submucous Fibrosis ◽

Vascular Endothelial ◽

Nucleotide Polymorphisms ◽

North Indian Population ◽

Single Nucleotide ◽

Increased Risk ◽

Submucous Fibrosis ◽

Endothelial Growth Factor

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Single Nucleotide Polymorphisms inmiR-122Are Associated with the Risk of Hepatocellular Carcinoma in a Southern Chinese Population

BioMed Research International ◽

10.1155/2018/1540201 ◽

2018 ◽

Vol 2018 ◽

pp. 1-6 ◽

Cited By ~ 4

Author(s):

Chunhua Bei ◽

Shun Liu ◽

Xiangyuan Yu ◽

Moqin Qiu ◽

Bo Tang ◽

...

Keyword(s):

Hepatocellular Carcinoma ◽

Single Nucleotide Polymorphisms ◽

Chinese Population ◽

Target Genes ◽

Risk Group ◽

High Risk Group ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Southern Chinese ◽

Increased Risk

Single nucleotide polymorphisms (SNPs) in microRNA may affect its expression and regulation of target genes, which may consequently alter individual susceptibility to cancer. In this study we aimed to investigate associations betweenmiR-122polymorphisms and hepatocellular carcinoma (HCC) in a southern Chinese population. Three selected SNPs inmiR-122(rs9966765, rs1135519, and rs17669) were genotyped in 1050 HCC patients and 1079 cancer-free controls using Sequenom MassARRAY platform and the associations of the three SNPs and HCC risk were evaluated. We found that individuals with the rs1135519 CC genotypes had a significant increased risk of HCC than those with TT genotypes (adjusted OR=2.71, 95% CI=1.15-6.36, andP=0.022), while the rs9966765 CC genotypes showed a borderline significant association with increased risk of HCC when compared with the GG genotypes (adjusted OR=2.38, 95% CI=0.99-5.75, andP=0.052). There was also a significant increased risk of HCC when combining risk genotypes of these loci, i.e., rs1135519 CC and rs9966765 CC. Compared with the low-risk group (0 risk genotype), the high risk group (1-2 risk genotypes) had significantly increased risk of HCC (OR=1.61, 95% CI=1.05-2.44, andP=0.028). Further genotype-expression analysis revealed that cases carrying the CC genotype of rs1135519 had lower levels ofmiR-122expression than those with the TT genotype. Our results suggest that SNP of rs1135519 modulatesmiR-122expression and contributes to the genetic susceptibility of HCC, either independently or together with rs9966765 inmiR-122.Further well-designed studies with lager sample sizes are needed to confirm our findings.

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Correlation between miRNA target site polymorphisms in the 3′ UTR of AVPR1A and the risk of hypertension in the Chinese Han population

Bioscience Reports ◽

10.1042/bsr20182232 ◽

2019 ◽

Vol 39 (5) ◽

Cited By ~ 1

Author(s):

Liuping Zhang ◽

Jinwei Liu ◽

Peng Cheng ◽

Fangchao Lv

Keyword(s):

Single Nucleotide Polymorphisms ◽

Mirna Target ◽

Direct Sequencing ◽

Chinese Han Population ◽

Control Group ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Single Nucleotide ◽

Han Population ◽

Increased Risk

Abstract We aimed to study the relationship between rs11174811 and rs3803107 single nucleotide polymorphisms (SNPs) in miRNA target sites of the 3′ UTR in the arginine vasopressin receptor 1a gene (AVPR1A) and the risk of hypertension in the Chinese Han population. The genotypes at rs11174811 and rs3803107 were analyzed by direct sequencing in 425 Chinese Han patients with hypertension and 425 healthy subjects. AVPR1A expression was investigated by transfecting miR-526b, miR-375, and miR-186 mimics into human umbilical vein endothelial cells (HUVECs) containing AVPR1A rs11174811 CC, CA/AA and AVPR1A rs3803107 GG, GA/AA genotypes. The A alleles of rs11174811 (adjusted OR = 1.424, 95% CI: 1.231–1.599, P<0.001) and rs3803107 (adjusted OR = 1.222, 95% CI: 1.092–1.355; P=0.001) were high risk factors for hypertension. Plasma levels of miR-526b, miR-375, and miR-186 were higher in the study group than in the control group (P<0.001). The expression levels of AVPR1A mRNA in AVPR1A rs11174811 and rs3803107 mutant HUVECs were higher than those in wild-type cells (t = 8.811, 4.068 and P=0.001, 0.015, respectively). The single nucleotide polymorphisms rs11174811 and rs3803107 in the AVPR1A gene are associated with an increased risk of hypertension in the Chinese Han population. This may be related to the effect of these variants on the regulation of AVPR1A expression by miRNAs.

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Candidate single nucleotide polymorphisms of irritable bowel syndrome: a systemic review and meta-analysis

BMC Gastroenterology ◽

10.1186/s12876-019-1084-z ◽

2019 ◽

Vol 19 (1) ◽

Cited By ~ 3

Author(s):

Shiwei Zhu ◽

Ben Wang ◽

Qiong Jia ◽

Liping Duan

Keyword(s):

Irritable Bowel Syndrome ◽

Single Nucleotide Polymorphisms ◽

Meta Analysis ◽

Systemic Review ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Genetic Studies ◽

Increased Risk ◽

Rome Iii ◽

Irritable Bowel

Abstract Background Genetic factors increase the risk of irritable bowel syndrome (IBS). Analysis of single nucleotide polymorphisms (SNPs) has been used in IBS patients, but the findings are inconsistent. The goal of this review was to synthesize all the published SNPs studies of IBS through meta-analysis to objectively evaluate the relevance of SNPs to IBS risks. Methods IBS - related polymorphisms studies from 2000 to 2018 were searched. Pooled odds ratios with a 95% confidence interval for each SNP were evaluated through five genetic models. Ethnicity, ROME criteria and IBS subtypes were defined for subgroup analyze. Results Ten relevant genes were evaluated. SNPs rs4263839 and rs6478108 of TNFSF15 associated with an increased risk of IBS; IL6 rs1800795 increased the risk for Caucasian IBS patients which diagnosed by Rome III criteria; and IL23R rs11465804 increased the risk for IBS-C patients. IL10 rs1800896 GG genotype associated with a decreased risk of IBS. No evidence supported the association of GNβ3 rs5443, TNFα rs1800629, and IL10 rs1800871 to IBS in this study. Conclusions This meta-analysis presents an in-depth overview for IBS SNPs analysis. It was confirmed that polymorphisms of TNFSF15 associated with increased IBS risk, while IL10 rs1800896 associated with decreased IBS risk. It might offer some insights into polymorphisms of inflammation factors which might affect IBS susceptibility. Moreover, the analysis also emphasizes the importance of diagnostic criteria and phenotype homogeneity in IBS genetic studies.

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