scholarly journals Effect of the Common Fat Mass and Obesity Associated Gene Variants on Obesity in Pakistani Population: A Case-Control Study

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Shabana ◽  
Shahida Hasnain
Keyword(s):  
Fat Mass ◽  
Anthropometric Measures ◽  
Single Nucleotide ◽  
Pakistani Population ◽  
Global Epidemic ◽  
Asian Populations ◽  
Risk Alleles ◽  
Genotype Frequencies ◽  
Quantitative Manner ◽  
Control Study

Background/Objective. Obesity has become a global epidemic due to an increase in the number of obese individuals worldwide. There is little research in the field of obesity genetics in Pakistan. The aim of the current study was to analyze the association of common variants in Fat Mass and Obesity associated(FTO)gene with obesity in Pakistan, to find out the effect of the selected SNPs on anthropometric and biochemical traits, and to observe whether these variants act synergistically.Methods. Samples from 631 subjects were taken after informed consent and were used for serum parameters and genetic analysis. Lipid profile was determined, tetra-ARMS PCR was used for genotyping, and allele/genotype frequencies and genescore were calculated.Results. AllFTOvariants were associated with obesity, and some biochemical and anthropometric measures and had higher minor allele frequencies than those reported for Asian populations previously. The risk allele of each single nucleotide polymorphism resulted in an increase in BMI in a quantitative manner.Conclusion. Common forms of obesity are due to a combined net effect of many variants presented in same or different genes. The more the number of risk alleles present, the higher the risk and severity of obesity resulting from an increase in BMI.

scholarly journals Polymorphism C/T-13910 of the LCT gene regulatory region and lactase deficiency in Eurasian populations

2007 ◽  
Vol 5 (3) ◽  
pp. 25-34
Author(s):  
Maria V Sokolova ◽  
Eugene V Vasilyev ◽  
Andrey I Kozlov ◽  
Denis V Rebrikov ◽  
Svetlana S Senkeeva ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Regulatory Region ◽  
Recessive Trait ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Genetic Determination ◽  
Asian Populations ◽  
Genotype Frequencies ◽  
European Part Of Russia ◽  
Genetically Determined

Genetically determined deficiency of the lactase enzyme in adults (primary hypolactasia) is a recessive trait. As shown earlier, in some European populations primary hypolactasia is determined by carrying the CC genotype at the single-nucleotide polymorphism (SNP) LCT*С/T-13910. In this work allele and genotype frequencies were estimated for the single-nucleotide polymorphism (SNP) LCT*C/ T-13910 in 7 samples (346 individuals in total), representing Eurasian populations (Saami, Mari, Russians from the Volga-Ural Area, Kazakhs, Uyghurs, Buriats, Arabs). For part of these groups and for some of the earlier studied groups the frequencies of the CC genotype are similar to the epidemiological-clinical data on hypolactasia frequency reported for respective or closely located populations (in Russians, Ukrainians, Byelorussians, Kola Saami, Mari, Komi-Permyaks, Udmurts, Pamir Mountain dwellers, and in Chukchi, Iranians and Arabs). For the Asian populations, the data are contradictory, and evaluation of genetic determination of hypolactasia in these populations requires further studies of larger samples. Considering association of primary hypolactasia with CC genotype in the Russian sample found by us earlier, the obtained results point that the CC genotype at SNP LCT*C/ T-13910 is the main genetic determinant of primary hypolactasia for populations of the European part of Russia.

scholarly journals Polymorphism rs2073618 of the TNFRSF11B (OPG) Gene and Bone Mineral Density in Mexican Women with Rheumatoid Arthritis

2017 ◽  
Vol 2017 ◽  
pp. 1-8 ◽  
Author(s):  
C. A. Nava-Valdivia ◽  
A. M. Saldaña-Cruz ◽  
E. G. Corona-Sanchez ◽  
J. D. Murillo-Vazquez ◽  
M. C. Moran-Moguel ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Bone Mineral Density ◽  
Bone Mineral ◽  
Mexican Women ◽  
Mineral Density ◽  
Single Nucleotide ◽  
Mexican Mestizo ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Control Study

Osteoporosis (OP) is highly prevalent in rheumatoid arthritis (RA) and is influenced by genetic factors. Single-nucleotide polymorphism (SNP) rs2073618 in the TNFRSF11B osteoprotegerin (OPG) gene has been related to postmenopausal OP although, to date, no information has been described concerning whether this polymorphism is implied in abnormalities of bone mineral density (BMD) in RA. We evaluated, in a case-control study performed in Mexican-Mestizo women with RA, whether SNP rs2073618 in the TNFRSF11B gene is associated with a decrease in BMD. RA patients were classified as follows: (1) low BMD and (2) normal BMD. All patients were genotyped for the rs2073618 polymorphism by PCR-RFLP. The frequency of low BMD was 74.4%. Higher age was observed in RA with low BMD versus normal BMD (62 and 54 years, resp.; p<0.001). Worse functioning and lower BMI were observed in RA with low BMD (p=0.003 and p=0.002, resp.). We found similar genotype frequencies in RA with low BMD versus RA with normal BMD (GG genotype 71% versus 64.4%, GC 26% versus 33%, and CC 3% versus 2.2%, resp.; p=0.6). We concluded that in Mexican-Mestizo female patients with RA, the rs2073618 polymorphism of the TNRFS11B gene is not associated with low BMD.

scholarly journals Fat mass- and obesity-associated genotype, dietary intakes and anthropometric measures in European adults: the Food4Me study

2015 ◽  
Vol 115 (3) ◽  
pp. 440-448 ◽  
Author(s):  
Katherine M. Livingstone ◽  
Carlos Celis-Morales ◽  
Santiago Navas-Carretero ◽  
Rodrigo San-Cristobal ◽  
Hannah Forster ◽  
...  
Keyword(s):  
Food Consumption ◽  
Fat Mass ◽  
Controlled Trial ◽  
Healthy Eating Index ◽  
Dietary Intakes ◽  
Anthropometric Measures ◽  
Risk Variant ◽  
Fried Food ◽  
Risk Alleles ◽  
Randomised Controlled

AbstractThe interplay between the fat mass- and obesity-associated (FTO) gene variants and diet has been implicated in the development of obesity. The aim of the present analysis was to investigate associations between FTO genotype, dietary intakes and anthropometrics among European adults. Participants in the Food4Me randomised controlled trial were genotyped for FTO genotype (rs9939609) and their dietary intakes, and diet quality scores (Healthy Eating Index and PREDIMED-based Mediterranean diet score) were estimated from FFQ. Relationships between FTO genotype, diet and anthropometrics (weight, waist circumference (WC) and BMI) were evaluated at baseline. European adults with the FTO risk genotype had greater WC (AAv. TT: +1·4 cm; P=0·003) and BMI (+0·9 kg/m2; P=0·001) than individuals with no risk alleles. Subjects with the lowest fried food consumption and two copies of the FTO risk variant had on average 1·4 kg/m2 greater BMI (Ptrend=0·028) and 3·1 cm greater WC (Ptrend=0·045) compared with individuals with no copies of the risk allele and with the lowest fried food consumption. However, there was no evidence of interactions between FTO genotype and dietary intakes on BMI and WC, and thus further research is required to confirm or refute these findings.

Association of CYP19A1 gene polymorphisms with anoestrus in water buffaloes

2018 ◽  
Vol 30 (3) ◽  
pp. 487 ◽  
Author(s):  
Khairy M. El-Bayomi ◽  
Ayman A. Saleh ◽  
Ashraf Awad ◽  
Mahmoud S. El-Tarabany ◽  
Hadeel S. El-Qaliouby ◽  
...  
Keyword(s):  
Blood Levels ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Association Analyses ◽  
Water Buffaloes ◽  
Risk Alleles ◽  
Lower Blood ◽  
High Incidence ◽  
Control Study ◽  
Selection Of

Cytochrome P450 aromatase (encoded by the CYP19A1 gene) regulates oestrogen biosynthesis and so plays an essential role in female fertility. We investigated the genetic association of CYP19A1 with the risk of anoestrus in Egyptian water buffaloes. A total of 651 animals (326 anoestrous and 325 cycling) were used in this case-control study. Using single-strand conformation polymorphisms and sequencing, four single nucleotide polymorphisms (SNPs) were detected; c.−135T > C SNP in the 5′UTR and three non-synonymous SNPs: c.559G > A (p. V187M) in Exon 5, c.1285C > T (p. P429S) and c.1394A > G (p. D465G) in Exon 10. Individual SNP-anoestrus association analyses revealed that genotypes (CC, AA and GG) and alleles (C, A and G) of the −135T > C, c.559G > A and c.1394A > G SNPs respectively were high risk for anoestrus. A further analysis confirmed that these three SNPs were in linkage disequilibrium. Additionally, haplotypes with two (TAG/122 and CAA/221) or three (CAG/222) risk alleles were significantly associated with susceptibility to anoestrus, lower blood levels of both oestradiol and antioxidant enzymes (superoxide dismutase, glutathione peroxidase (GPX) and catalase) and downregulated expression levels of CYP19A1, oestrogen receptor α and Gpx3 in the ovary, as well as increased serum level of malondialdehyde. This suggests the occurrence of a high incidence of oxidative ovarian damage and subsequently ovarian inactivity in buffaloes carrying risk alleles. Therefore, with this study we suggest the selection of buffaloes with protective alleles at these SNPs to improve the reproductive efficiency of the herd.

scholarly journals Association Study of Single Nucleotide Polymorphisms of Endoplasmic Reticulum Aminopeptidase 1 and 2 Genes in Iranian Women with Preeclampsia

2019 ◽  
Author(s):  
Hamid DARGAHI ◽  
Mohammad Hossein NICKNAM ◽  
Mahroo MIRAHMADIAN ◽  
Mahdi MAHMOUDI ◽  
Saeed ASLANI ◽  
...  
Keyword(s):  
Endoplasmic Reticulum ◽  
Single Nucleotide Polymorphisms ◽  
Case Control Study ◽  
Nucleotide Polymorphisms ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Genotype Frequencies ◽  
Control Study ◽  
Risk Of Preeclampsia

Background: Endoplasmic reticulum aminopeptidases 1 and 2 (ERAP1 and 2) are involved in blood pressure regulation and single nucleotide polymorphisms (SNPs) of these genes have been linked to preeclampsia. This study intended to assess the association of ERAP1 and 2 genes polymorphism with Iranian preeclamptic women. Methods: In this case-control study, 148 preeclamptic and 133 pregnant women were selected from the Kosar Hospital, Qazvin, Iran, during 2013-2015. In order to genotype the subjects for rs28096, rs30187, rs26653, rs3734016, rs34750 and rs2549782, rs17408150 for ERAP1 and 2 genes, respectively, Real-Time PCR allelic discrimination approach was exploited. Results: Neither allelic nor genotype frequencies of all seven polymorphisms were significantly different between two groups. Though, ACGACTT and GTCAGGA haplotypes were related with decreased (P=0.0079, OR=0.559, 95% CI: 0.363-0.861 and P=0.02, OR=0.417, 95% CI: 0.194-0.896, respectively), but ACGACGT and GTGACTT haplotypes were associated with an increased (P=0.00082, OR=3.657, 95% CI: 1.630-8.206 and P=0.02, OR=2.401, 95% CI: 1.119-5.151, respectively) risk of preeclampsia. Moreover, some positions were detected to be in linkage disequilibrium. Conclusion: Ongoing investigation resulted differently from before performed studies considering the role of ERAP1 and ERAP2 gene polymorphisms in predisposing women to preeclampsia, emphasizing on the genetic structure differences among various racial populations.

scholarly journals Evaluation of the Relationship Between Cytochrome P450 Polymorphisms and T2DM Risk

2020 ◽  
Author(s):  
QingBin Zhao ◽  
Huiyi Wei ◽  
Zhiying Li ◽  
Haoyang Wei
Keyword(s):  
Statistical Significance ◽  
Nucleotide Polymorphisms ◽  
Chi Square ◽  
Single Nucleotide ◽  
Gender Stratification ◽  
Genotype Frequencies ◽  
Chi Square Test ◽  
The Relationship ◽  
Control Study

Abstract Background: Recent studies have identified some genetic polymorphisms of CYP2C8 and CYP2D6 related to disease susceptibility. However, it has not been reported whether polymorphisms in CYP2C8 and CYP2D6 are associated with the risk of type 2 diabetes mellitus (T2DM). We designed a case-control study to evaluate the relationship between those CYP polymorphisms and T2DM risk. Methods: Four single nucleotide polymorphisms (SNPs) of CYP2C8 and CYP2D6 were genotyped from 512 patients and 515 healthy controls using Agena MassARRAY. The chi-square test was used to compare the differences in allele and genotype frequencies between the two groups. Odds ratios (ORs) and 95% confidence intervals (CIs) were estimated by logistic regression analysis to evaluate the relationship between polymorphism and T2DM risk. Results: The results found that the rs1065852 in CYP2D6 was correlated with the T2DM risk in overall (A vs. G: OR = 1.22, 95% CI: 1.03–1.45, P = 0.024; AA vs.GG: OR = 1.46, 95% CI: 1.04–2.06, P = 0.031; AA-AG vs. GG: OR = 1.36, 95% CI: 1.04–1.79, P = 0.026; additive: OR = 1.21, 95% CI: 1.02–1.44, P = 0.027). Gender stratification analysis results demonstrated that the rs1065852 in CYP2D6 was related with an increased the risk of T2DM in male and age < 59 years old. However, no statistical significance relation was found between CYP2C8 SNPs and T2DM risk. Conclusions: This study revealed that CYP2D6 (rs1065852) could be potential genetic markers of susceptibility to T2DM. Further studies are required to confirm our findings.

scholarly journals Genetic Variants in KIR/HLA-C Genes Are Associated With the Susceptibility to HCV Infection in a High-Risk Chinese Population

2021 ◽  
Vol 12 ◽  
Author(s):  
Chao Shen ◽  
Zhijun Ge ◽  
Chen Dong ◽  
Chunhui Wang ◽  
Jianguo Shao ◽  
...  
Keyword(s):  
High Risk ◽  
Chinese Population ◽  
Drug Users ◽  
Hcv Infection ◽  
Taqman Assay ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Risk Alleles ◽  
Increased Risk ◽  
Control Study

BackgroundKIR/HLA-C signaling pathway influences the innate immune response which is the first defense to hepatitis C virus (HCV) infection. The aim of this study was to determine the association between the genetic polymorphisms of KIR/HLA-C genes and the outcomes of HCV infection in a high-risk Chinese population.MethodsIn this case-control study, four single nucleotide polymorphisms (SNPs) of KIR/HLA-C genes (KIR2DS4/KIR2DS1/KIR2DL1 rs35440472, HLA-C rs2308557, HLA-C rs1130838, and HLA-C rs2524094) were genotyped by TaqMan assay among drug users and hemodialysis (HD) patients including 1,378 uninfected control cases, 307 subjects with spontaneous viral clearance, and 217 patients with persistent HCV infection. Bioinformatics analysis was used to functionally annotate the SNPs.ResultsAfter logistic regression analysis, the rs35440472-A and rs1130838-A alleles were found to be associated with a significantly elevated risk of HCV infection (OR = 1.562, 95% CI: 1.229–1.987, P &lt; 0.001; OR = 2.134, 95% CI: 1.180–3.858, P = 0.012, respectively), which remained significant after Bonferroni correction (0.05/4). The combined effect of their risk alleles and risk genotypes (rs35440472-AA and rs1130838-AA) were linked to the increased risk of HCV infection in a locus-dosage manner (all Ptrend &lt; 0.001). Based on the SNPinfo web server, rs35440472 was predicted to be a transcription factor binding site (TFBS) while rs1130838 was predicted to have a splicing (ESE or ESS) function.ConclusionKIR2DS4/KIR2DS1/KIR2DL1 rs35440472-A and HLA-C rs1130838-A variants are associated with increased susceptibility to HCV infection in a high-risk Chinese population.

The Leu33/Pro Polymorphism (PIA1/PIA2 ) of the Glycoprotein IIIa (GPIIIa) Receptor Is Not Related to Myocardial Infarction in the ECTIM Study

1997 ◽  
Vol 77 (06) ◽  
pp. 1179-1181 ◽  
Author(s):  
Stefan-Martin Herrmann ◽  
Odette Poirier ◽  
Pedro Marques-Vidal ◽  
Alun Evans ◽  
Dominique Arveiler ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Acute Coronary Syndromes ◽  
Case Control Study ◽  
Case Control ◽  
Receptor Complex ◽  
Genotype Frequencies ◽  
Large Multicenter Study ◽  
Glycoprotein Iiia ◽  
Coronary Syndromes ◽  
Control Study

SummaryThe GPIIb/IIIa receptor complex may contribute to acute coronary syndromes by mediating platelet aggregation. The Leu33/Pro polymorphism (PlAl/PlA2) of the GPIIIa has recently been shown to be associated with CHD in a small case-control study. We have investigated this polymorphism in a large multicenter study of patients with myocardial infarction and controls and found no difference in the distribution of allele and genotype frequencies between cases and controls.

scholarly journals Genetic polymorphism for IFNγ +874T/A in patients with acute toxoplasmosis

2012 ◽  
Vol 45 (6) ◽  
pp. 757-760 ◽  
Author(s):  
Elizabeth de Souza Neves ◽  
André Luis Land Curi ◽  
Maira Cavalcanti de Albuquerque ◽  
Cassius Schnel Palhano-Silva ◽  
Laura Berriel da Silva ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Case Control Study ◽  
Severe Disease ◽  
Clinical Manifestations ◽  
Nucleotide Polymorphism ◽  
Gene Encoding ◽  
Single Nucleotide ◽  
Duration Of Disease ◽  
Acute Toxoplasmosis ◽  
Control Study

INTRODUCTION: A single nucleotide polymorphism (SNP) in the gene encoding gamma interferon influences its production and is associated with severity of infectious diseases. This study aimed to evaluate the association of IFNγ+874T/A SNP with duration of disease, morbidity, and development of retinochoroiditis in acute toxoplasmosis. METHODS: A case-control study was conducted among 30 patients and 90 controls. RESULTS: Although statistical associations were not confirmed, A-allele was more common among retinochoroiditis cases and prolonged illness, while T-allele was more frequent in severe disease. CONCLUSIONS: Despite few cases, the results could indicate a relation between IFNγ+874T/A single nucleotide polymorphism and clinical manifestations of toxoplasmosis.

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