Differential distribution and association of FTO rs9939609 gene polymorphism with obesity: A cross-sectional study among two tribal populations of India with East-Asian ancestry

Gene ◽  
2018 ◽  
Vol 647 ◽  
pp. 198-204 ◽  
Author(s):  
Somorjit Singh Ningombam ◽  
Varhlun Chhungi ◽  
Masan Kambo Newmei ◽  
Sunanda Rajkumari ◽  
Naorem Kiranmala Devi ◽  
...  
BMJ Open ◽  
2018 ◽  
Vol 8 (7) ◽  
pp. e019902 ◽  
Author(s):  
Sandrita Simonyte ◽  
Renata Kuciene ◽  
Virginija Dulskiene ◽  
Vaiva Lesauskaite

ObjectivesRecently, genome-wide associated studies have identified several genetic loci that are associated with elevated blood pressure and could play a critical role in intracellular calcium homeostasis. The aim of this study was to assess the associations ofATP2B1rs2681472 andCACNB2rs12258967 gene polymorphisms with high blood pressure (HBP) among Lithuanian children and adolescents aged 12–15 years.Study design and participantsThis was a cross-sectional study of a randomly selected sample of 646 12–15-year-old adolescents who participated in the survey ‘The Prevalence and Risk Factors of HBP in 12–15 Year-Old Lithuanian Children and Adolescents (from November 2010 to April 2012)’. Anthropometric parameters and BP were measured. The participants with HBP were screened on two separate occasions. Subjects were genotypedATP2B1rs2681472 andCACNB2rs12258967 gene polymorphisms using real-time PCR method.ResultsThe prevalence of HBP was 36.7%, significantly higher for boys than for girls. In the multivariate analysis, after adjustment for body mass index and waist circumference, boys withCACNB2CG genotype,CACNB2GG genotype andCACNB2CG +GG genotype had higher odds of having HBP in codominant (adjusted OR (aOR)=1.92; 95% CI 1.16 to 3.18, p=0.011; and aOR=2.64; 95% CI 1.19 to 5.90, p=0.018) and in dominant (aOR=2.05; 95% CI 1.27 to 3.30, p=0.003) inheritance models. Girls carryingCACNB2CG genotype andCACNB2CG +GG genotype had increased odds of HBP in codominant (aOR=1.82; 95% CI 1.02 to 3.24, p=0.044) and in dominant (aOR=1.89; 95% CI 1.09 to 3.28, p=0.023) inheritance models. Furthermore, significant associations were found in additive models separately for boys (aOR=1.72; 95% CI 1.20 to 2.46, p=0.003) and girls (aOR=1.52; 95% CI 1.05 to 2.20, p=0.027). No significant association was found betweenATP2B1gene polymorphism and the odds of HBP.ConclusionsOur results indicate thatCACNB2gene polymorphism was significantly associated with higher odds of HBP in Lithuanian adolescents aged 12–15 years.


2019 ◽  
Vol 11 (1) ◽  
pp. 63-9
Author(s):  
Amelia Lorensia ◽  
Zullies Ikawati ◽  
Tri Murti Andayani ◽  
Daniel Maranatha ◽  
Mariana Wahyudi

BACKGROUND: Aminophylline (theophylline) is one of the most frequent asthma therapies in Indonesia, although it remains as a narrow therapy. The effects of drugs are individualized and strongly influenced by genetic, one of which is CYP1A2 gene polymorphisms. This study aimed to determine the profile of CYP1A2 polymorphism and theophylline level in asthma exacerbation patients receiving intravenous aminophylline therapy.METHODS: This cross sectional study was conducted in the emergency room (ER), to adults asthma exacerbation patients without complication (n=27), visiting the ER. The gene polymorphism data were compared with theophylline levels in the blood using chi-square test.RESULTS: In the CYP1A2 gene polymorphism profile, the most common heterozygous alleles are T/G genotype of CYP1A2*1E and C/A genotype of CYP1A2*1F. Most homozygote alleles exist in CYP1A2*1D and CYP1A2*1F. There was significant difference between CYP1A2*1D (p<0.005), CYP1A2*1E (p<0.023) and CYP1A2*1F (p<0.000) polymorphisms and theophylline level.CONCLUSION: CYP1A2*1D, CYP1A2*1E and CYP1A2*1F gene polymorphisms had an effect on theophylline levels. However, no one experienced an overdose theophylline, and no correlation between theophylline levels with CYP1A2 gene polymorphism.KEYWORDS: exacerbation asthma, intravenous aminophylline, CYP1A2 polymorphism gene, theophylline


Author(s):  
Chintan Gamit ◽  
MohamedAnas M. Patni ◽  
Sukesha Gamit

Background: India has the largest concentration of tribal populations globally. A high prevalence of sickle cell anemia is seen in tribal communities of South Gujarat. The aims and objectives were to study socio- demographic profile of the patients having positive sickle cell status.Methods: It was a cross-sectional study, where Bardoli taluka was selected purposively. All patients of sickle cell anemia registered at all PHCs of Bardoli Taluka during period between June 2010 and May 2011 & aged between 18 to 30 years were taken in study.Results: This study included total 276 cases of which 264 (96%) had sickle cell trait, while 12 (4%) had sickle cell disease. Majority of patients were from Umrakh and Vanskui PHC. More than 90% of patients belonged to ST caste and more than 40% among them were from Rathod sub caste.Conclusions: More than 90% of patients were laborers and majority of them belonged to low socio economic class. Mean age at diagnosis of sickle cell anemia ranged from 21 to 25 years. 


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