• Title/Summary/Keyword: obesity and polymorphism

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Alterations of Human Autonomic Nervous System Activity on Capsaicin Ingestion, and Variants of UCP1 and β3- -adrenergic Receptor Polymorphism (캡사이신 섭취와 UCP1 과 β3- adrenergic Receptor Polymorphism의 다양성에 대한 자율신경활동의 변화)

  • Ko, Ki-Jun;Shin, Ki-Ok
    • Journal of Life Science
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    • v.17 no.8 s.88
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    • pp.1075-1081
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    • 2007
  • We investigated whether 1) capsaicin ingestion (100 mg) enhances autonomic nervous system (ANS) activities associated with thermogenic sympathetic activity as energy metabolic modulator, 2) UCP1 and ${\beta}_{3}$-AR variants of each subjects influence with ANS activity. Eight healthy males (24.7 ${\pm}$ 1.8 yr) volunteered for this study. The cardiac autonomic nervous activities evaluated by means of heart rate variability of power spectral analysis and energy metabolism were continuously measured during 5-min rest for total 90-min resting condition with placebo or capsaicin oral administration chosen at random. The results indicated that there were no significant differences in heart rate during rest between both trials. Autonomic nervous activity increased in capsaicin tablet trial, but the difference did not reach the statistical significance. Capsaicin, however, induced significantly lower respiratory gas exchange ratio at Test3 (CAP: 0.80 ${\pm}$ 0.02 vs. 0.85 ${\pm}$ 0.02), means ${\pm}$ SE, p<0.05). In conclusion, it may be suggested the capsaicin consumption as a valuable supplement for the treatment of individual with hyperlipidemia and/or obesity by improving lipolysis. Further studies will also be considered genetic variants such as UCP1 and/or ${\beta}_{3}$-AR associated with obesity.

Genetic Variants of CYP11B2 and CYP1A1 Among the North-Indian Punjabi Females with Polycystic Ovary Syndrome

  • Ratneev, Kaur;Mandeep, Kaur;Sukhjashanpreet, Singh;Tajinder, Kaur;Anupam, Kaur
    • Korean Journal of Clinical Laboratory Science
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    • v.54 no.4
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    • pp.316-324
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    • 2022
  • Polycystic ovary syndrome (PCOS) is a complex endocrinopathy in women of reproductive age. The genetics of PCOS is heterogeneous with the involvement of number of genes in the steroid synthesis pathway. The CYP11B2 encodes aldosterone synthase and the genetic variants might increase aldosterone secretion in PCOS cases. CYP1A1 is known to enhance the intraovarian catechol estrogen production and thus the propensity for PCOS. The present case-control study analyzed a total of 619 females for CYP11B2 (rs1799998) and CYP1A1 (rs4646903) polymorphisms. Obesity was examined according to body mass index (BMI) and waist hip ratio (WHR) categorization. Biochemical (lipid profile) analysis was performed in PCOS females. BMI (P=0.0001) and WHR (P=0.0001) revealed a statistically significant difference between PCOS cases and controls. The overall levels of triglycerides were higher in PCOS females. The genotype frequency distribution of CYP11B2 (rs1799998) polymorphism revealed statistically significant difference between PCOS cases and controls (P=0.017). However, CYP1A1 (rs4646903) polymorphism did not showed any association with PCOS. The present case-control association analysis is first from our region for CYP1A1 and CYP11B2 polymorphisms and is suggestive of genetic predisposition of steroidogenic genes among PCOS patients in the North-Indian Punjabi females.

Interactions between the $FTO$ rs9939609 polymorphism, body mass index, and lifestyle-related factors on metabolic syndrome risk

  • Baik, In-Kyung;Shin, Chol
    • Nutrition Research and Practice
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    • v.6 no.1
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    • pp.78-85
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    • 2012
  • Whether the $FTO$ polymorphisms interact with environmental factors has not yet been evaluated in associations with metabolic syndrome (MS) risk. The present study investigated the association of the $FTO$ rs9939609 genotypes, body mass index (BMI), and lifestyle-related factors including smoking, alcohol drinking, physical activity, and diet with MS incidence. A population-based prospective cohort study comprised 3,504 male and female Koreans aged 40 to 69 years. At the beginning of the study, all individuals were free of MS and known cardiovascular disease. Incident cases of MS were identified by biennial health examinations during a follow-up period from April 17, 2003 to April 15, 2009. Pooled logistic regression analysis was applied to obtain relative odds (RO) of MS with its 95% confidence interval (CI). After controlling for potential MS risk factors, we observed no association between the rs9939609 genotypes and MS incidence. In analysis stratified by BMI, however, carriers with the $FTO$ risk allele whose BMI is $29kg/m^2$ or greater showed an approximately 6-fold higher RO (95% CI: 3.82 to 9.30) compared with non-carriers with BMI less than $25kg/m^2$. In particular, the association between the rs9939609 variants and MS risk was significantly modified by high BMI (P-value for interaction < 0.05). Such significant interaction appeared in associations with central obesity and high blood pressure among the MS components. Because carriers of the $FTO$ risk alleles who had BMI of $29kg/m^2$ or greater are considered a high risk population, we suggest that they may need intensive weight loss regimens to prevent MS development.

Angiotensinogen gene M235T polymorphism as a predictor of cardiovascular risk in hypertensive adolescents (고혈압 청소년의 심혈관계 위험요소로서 Angiotensinogen M235T 유전자 다형)

  • Gil, Joo Hyun;Lee, Jung Ah;Park, Eun Young;Hong, Young Mi
    • Clinical and Experimental Pediatrics
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    • v.52 no.1
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    • pp.36-43
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    • 2009
  • urpose : The renin-angiotensin system (RAS) has been demonstrated to play a major role in regulating blood pressure. Therefore, components of the RAS are likely candidate genes that may predispose an individual to essential hypertension and cardiovascular complications. Among them, the M235T polymorphism of the angiotensinogen gene has been speculated to be associated with elevated circulating angiotensinogen concentrations and essential hypertension. This study aimed to analyze the angiotensinogen M235T polymorphism in hypertensive adolescents and investigate its relationship with cardiovascular risks. Methods : Forty Korean hypertensive adolescents (aged 16-17, systolic $BP{\geq}140 mmHg$ and/or diastolic $BP{\geq}90 mmHg$) and fifty seven normal adolescents were included. Obesity index (OI), body mass index (BMI) were calculated. BP was measured by oscillometric methods in resting state. Polymerase chain reaction (PCR) technique was performed on DNA from the hypertensives subjects to analyze the M235T polymorphism. Serum homocysteine, insulin, renin, aldosterone and angiotensin converting enzyme (ACE) were tested according to each genotype. The carotid intima-media thickness (IMT) and carotid artery diameter, Pulse wave velocity (PWV) and ankle-brachial index (ABI) were measured according to each genotype. Results : Genotype frequencies of T/T, M/T and M/M were 62.5%, 35.0%, 2.5%, respectively in hypertensive adolescents. The results were not significantly different compared to control group. Serum insulin, renin levels, BMI and OI were significantly higher in thoses with the M/M genotype as compared to those with the T/T of M/T genotype. Conclusion : This study showed that the M235T polymorphism was not associated with essential hypertension or any cardiovascular risks. Further clinical research is required to ascertain the relationship between this polymorphism and cardiovascular complications in Korean hypertensive adolescents.

Effect of Genetic Predisposition on Blood Lipid Traits Using Cumulative Risk Assessment in the Korean Population

  • Go, Min-Jin;Hwang, Joo-Yeon;Kim, Dong-Joon;Lee, Hye-Ja;Jang, Han-Byul;Park, Kyung-Hee;Song, Ji-Hyun;Lee, Jong-Young
    • Genomics & Informatics
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    • v.10 no.2
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    • pp.99-105
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    • 2012
  • Dyslipidemia, mainly characterized by high triglyceride (TG) and low high-density lipoprotein cholesterol (HDL-C) levels, is an important etiological factor in the development of cardiovascular disease (CVD). Considering the relationship between childhood obesity and CVD risk, it would be worthwhile to evaluate whether previously identified lipid-related variants in adult subjects are associated with lipid variations in a childhood obesity study (n = 482). In an association analysis for 16 genome-wide association study (GWAS)-based candidate loci, we confirmed significant associations of a genetic predisposition to lipoprotein concentrations in a childhood obesity study. Having two loci (rs10503669 at LPL and rs16940212 at LIPC) that showed the strongest association with blood levels of TG and HDL-C, we calculated a genetic risk score (GRS), representing the sum of the risk alleles. It has been observed that increasing GRS is significantly associated with decreased HDL-C (effect size, $-1.13{\pm}0.07$) compared to single nucleotide polymorphism combinations without two risk variants. In addition, a positive correlation was observed between allelic dosage score and risk allele (rs10503669 at LPL) on high TG levels (effect size, $10.89{\pm}0.84$). These two loci yielded consistent associations in our previous meta-analysis. Taken together, our findings demonstrate that the genetic architecture of circulating lipid levels (TG and HDL-C) overlap to a large extent in childhood as well as in adulthood. Post-GWAS functional characterization of these variants is further required to elucidate their pathophysiological roles and biological mechanisms.

Serum level of the adiponectin and adiponectin I164T polymorphism in hypertensive adolescents (고혈압 청소년에서의 혈청 adiponectin치와 adiponectin I164T 유전자다형성)

  • Lee, Jung Ah;Gil, Joo Hyun;Hong, Young Mi
    • Clinical and Experimental Pediatrics
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    • v.52 no.2
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    • pp.187-193
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    • 2009
  • Purpose : Adiponectin is a molecule that plays an important role in the metabolic syndrome. In addition, its concentration is known to be decreased in obesity, type 2 diabetes, and coronary artery disease. Although a relationship between hypertension and serum adiponectin concentrations has been reported by several authors, such findings continue to be debated. We investigated whether hypoadiponectinemia is related to hypertension in adolescents and studied the associated genetic polymorphism. Methods : Forty hypertensive adolescents (Age 16-17 years old) and twenty normotensive matched subjects were included. Serum adipo-nectin, insulin, renin, aldosterone and angiotensin converting enzyme (ACE) levels were compared. Their carotid intima-media thickness (cIMT) and pulse wave velocity (PWV) were measured. Polymorphisms of the adiponectin I164T gene were investigated using polymerase chain reaction (PCR). Results : The hypertensive adolescents had significantly greater cIMT and PWV. In addition, the serum aldosterone, renin and insulin levels were significantly higher in the hypertensive group. The plasma concentrations of adiponectin did not differ significantly between the two groups. TC genotype was not found in our study subjects; they all had the TT genotype of the adiponectine gene. Conclusion : The results of our study showed that adiponectin levels were not significantly different in adolescents with hypertension. There was no distinctive genetic polymorphism observed in this group of patients. Further large scale studies are needed to clarify the association between genetic variations and adiponectin in hypertensive adolescents.

Investigation of single nucleotide polymorphism in TSH-β and CaSR associated with body weight in Korean native chickens (Gray Brown)

  • Oh, Dongyep;Ha, Jae Jung;Yi, Jun Koo;Kim, Dae Hyun;Oh, Seung Min;Kim, Songmi;Han, Kyudong;Park, Yong-Soo
    • Journal of Animal Reproduction and Biotechnology
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    • v.36 no.3
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    • pp.129-136
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    • 2021
  • This study identified single nucleotide polymorphisms (SNPs) that affect the body weight of chickens. Analysis of body weight showed that the Cornish breed had the highest body weight, and the Korean native chicken (Gray Brown) had the lowest body weight. TSH is composed of an α-subunit and a β-subunit, and the TSH-β gene encoding the β-subunit has been reported to be associated with obesity. In chickens, it is located on chromosome 26 and is reported to be associated with growth. The calcium-sensing receptor gene (CaSR) plays a role in the regulation of extracellular calcium homeostasis and is responsible for calcium absorption in the urinary tract, which affects the eggshell quality in poultry. It was shown that TSH-β was strongly correlated with weight in Cornish and Korean native (Gray Brown) chickens, particularly in those with the CC trait. However, CaSR showed no association with body weight in poultry; it was associated with calcium and the eggshell. Thus, selection for TSH-β can be used to produce individuals with more favorable traits in terms of body weight.

The Effects of Aerobic Exercise on Hormones, Blood Lipids and Body Composition in Middle-Aged Obese Women according to $\beta$3-Adrenergic Receptor Gene Polymorphisms (비만 유전자 유.무에 따른 유산소 운동요법이 중년 비만여성의 대사조절 호르몬, 혈청지질 및 신체구성에 미치는 효과)

  • Kim In-Hong
    • Journal of Korean Academy of Nursing
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    • v.34 no.6
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    • pp.1108-1116
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    • 2004
  • Purpose: This research was conducted to provide basic information about the effects of aerobic exercise on physiological change in middle-aged obese women according to differences of ${\beta}$3-adrenergic receptor polymorphisms. Method: Twenty-nine middle aged obese women with over 30%BMI were divided into three groups according to ${\beta}$3-adrenergic receptor gene polymorphism[Variable Group(VG):9, Normal Group(NG):10, Control Group(CG):10]. The VG and NG groups performed walking at 50% exercise intensity for 30 minutes a day, 4 days a week, for 12 weeks. The data was analyzed using the SPSS program. Result: The level of leptin, insulin and % body fat in the VG and NG groups was significantly lower than those of the CG after 12 weeks. In addition, the level of HDL-C in the VG and NG was significantly higher than that of the CG after 12 weeks. However, TC, TG and body weight between groups didn't appear significant at the end of 12 weeks. Conclusions: Aerobic exercise didn't cause differences in persons with differing ${\beta}$3-adrenergic receptor gene polymorphisms, but aerobic exercise affected the physiological change in middle-aged obese women. The findings suggest that aerobic exercise is a desirable nursing intervention for obesity control in middle-aged obese women.

Association of apolipoprotein E polymorphisms with serum lipid profiles in obese adolescent (비만아에서 고지혈증과 Apolipoprotein E 다형성의 관계)

  • Yoon, Jung Min;Lim, Jae Woo;Cheon, Eun Jung;Ko, Kyoung Og
    • Clinical and Experimental Pediatrics
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    • v.51 no.1
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    • pp.42-46
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    • 2008
  • Purpose : Apolipoprotein E (Apo E) plays a major role in lipoprotein metabolism and lipid transport. Many investigators have described that Apo E polymorphisms is one of the most important genetic determinants for cardiovascular disease. The purpose of this study was to evaluate the association between Apo E polymorphisms and serum lipid profiles in obese adolescent. Methods : We measured the serum concentrations of glucose, apolipoprotein (Apo) A1, Apo B, total cholesterol (TC), triglyceride (TG), HDL and LDL-cholesterol after overnight fasting in obese adolescent. Apo E polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results : 86 obese adolescents participated in this study. The body mass index (BMI) of participants were excess of 95 percentile by age and sex. Male to female ratio was 1.7 and mean age of study group was $16.2{\pm}1.8\;years$. Mean BMI was $27.4{\pm}2.5kg/m^2$. The frequency of ${\varepsilon}2$, ${\varepsilon}3$ and ${\varepsilon}4$ allele were 8.1%, 87.2% and 4.7% respectively. Study populations were classified into the following three genotypes 1) Apo E2 group (n=13, 15.1%) carrying either the ${\varepsilon}2/{\varepsilon}2$ or ${\varepsilon}2/{\varepsilon}3$ 2) Apo E3 group (n=65, 75.6%) carrying the most frequent ${\varepsilon}3/{\varepsilon}3$ 3) Apo E4 group (n=8, 9.3%) carrying either the ${\varepsilon}3/{\varepsilon}4$ or ${\varepsilon}4/{\varepsilon}4$. No differences were found among Apo E genotypes concerning age, sex, weight, height and BMI. Apo B and LDL-cholesterol concentrations were significantly higher in the Apo E4 group (P<0.05). No association were found between Apo E genotypes and glucose, Apo A1, TC, TG and HDL. Conclusions : We confirmed that serum concentrations Apo B and LDL-cholesterol were influenced by Apo E genotypes. Apo E polymorphisms seems to influence some alteration of lipid metabolism associated with obesity in adolescent.

Study about the Association between Diabetes and the Targeted SNPs of TCF7L2 and FTO Genes (당뇨병에서 TCF7L2와 FTO 유전자의 특정 단일염기다형성과의 연관성 연구)

  • Hsia, Yu-Chun;Park, Jong-Hyung;Jun, Chan-Yong;Ko, Seung-Gyu;Choi, You-Kyung
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.24 no.3
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    • pp.504-511
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    • 2010
  • Diabetes is a disease that contains a high concentration of glucose in blood and due to defects in either insulin secretion or insulin action. Although the distinctive causes and factors of diabetes have not been clarified, the genetic factors are suggested as a main susceptibility until now. SNP (Single Nucleotide Polymorphism), as the most common genetic variation, has an influence on personal susceptibility for diseases. A nonsynonymous SNP, which changes the amino acid of the protein and its function, is especially important. Therefore, this study hypothesized that there are associations between specific SNPs of the targeted genes. Transcription factor 7-like 2 (TCF7L2) and fat mass and obesity associated (FTO) genes were selected as target genes from the results of genome-wide association and other related research studies. Second, four nonsynonymous SNPs (three in TCF7L2 and one in FTO gene) were selected as target SNPs by using public database of NCBI (National Center for Biotechnology Information). The recruited personnel was classified into three subgroups of diabetes, impaired fasting glucose (IFG) and normal groups. The individual genotypes of each group were analyzed by resequencing. None of genetic variations at four targeted SNP sites was revealed in all samples of this study. However, this study found two new SNPs that were not reported in TCF7L2 gene. One is synonymous SNP, which is heterozygous of C/T and no amino acid change of asparagine/asparagines, was located at c1641 and found in one normal person. Another is nonsynonymous SNP, which is heterozygous of G/A, was located at c1501 and found in two samples. This new discovered nonsynonymous SNP induce the amino acid change from alanine to threonine. Moreover, this new nonsynonymous SNP was found among two persons, one of whom was a diabetes patient and the other one was a person at boundary between IFG and normal, suggesting that this variant might be associated with IFG or diabetes. Even if there is a limitation of sample number for statistical power, this study has an importance due to the discovery of new SNPs. In the future study, a large sample number of diabetes cohort will be needed to investigate the frequency and association with new discovered SNP.