• Title/Summary/Keyword: obesity and polymorphism

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Matrix Metallopeptidase 2 Gene Polymorphism is Associated with Obesity in Korean Population

  • Han, Dong-Hee;Kim, Su-Kang;Kang, Sung-Wook;Choe, Bong-Keun;Kim, Keon-Sik;Chung, Joo-Ho
    • The Korean Journal of Physiology and Pharmacology
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    • v.12 no.3
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    • pp.125-129
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    • 2008
  • The aim of this study was to determine whether single nucleotide polymorphisms (SNPs) of matrix metallopeptidase 2 (MMP2) are associated with obesity. MMP2 is an enzyme with proteolytic activity against matrix and nonmatrix proteins, particularly basement membrane constituents. To identify the relationship between polymorphisms of MMP2 and overweight/obese, we genotyped 5 SNPs (rs17242319, rs1053605, rs243849, rs2287074, and rs10775332) of the coding region of MMP2 using the Golden Gate assay on an Illumina BeadStation 500 GX. One hundred and forty two overweight/obese ($BMI\;{\ge}\;23$) and 145 normal (BMI 18 to < 23) subjects were analyzed. SNPStats, Haploview, HapAnalyzer, SNPAnalyzer, and Helixtree programs were used for the analysis of genetic data. A linkage disequilibrium (LD) block was discovered among the 5 SNPs selected, including rs17242319, rs1053605, rs243849, and rs2287074. Of the 5 polymorphisms, 2 synonymous SNPs [rs17242319 (Gly226Gly) and rs10775332 (Phe602Phe)] were found significant associations with overweight/obese. Recently, rs1132896 replaced rs17242319 as a new number (SNP database, BUILD 129). In haplotype analysis using Haploview, a haplotype (haplotype: CCCA) containing a meaningful polymorphism (rs17242319) was found to be significantly different. The results suggest that MMP2 may be associated with overweight/obese in Korean population.

Effects of Peroxisome Proliferator-Activated $Receptor-{\gamma}2$ Pro12Ala Polymorphism on Body Fat Distribution in Female Korean Subjects (Peroxisome Proliferator-Activated $Receptor-{\gamma}$ 2 $(PPAR{\gamma}2)$ Pro12Ala (P12A) 유전자 다형성이 한국여성의 체지방분포에 미치는 영향)

  • Kim, Kil-Soo;Choi, Sun-Mi;Yang, Hyun-Sung;Yoon, Yoo-Sik;Shin, Seun-Uoo
    • Journal of Korean Medicine for Obesity Research
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    • v.4 no.1
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    • pp.1-11
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    • 2004
  • Objectives: The effects of peroxisome proliferator-activated receptor ${\gamma}2\;(PPAR{\gamma}2)$ Pro12Ala (P12A) polymorphism on body mass index (BMI) and type 2 diabetes are well documented; however, until now, only a few studies have evaluated the effects of this polymorphism on body fat distribution. This study was conducted to elucidate the effects of this polymorphism on computed tomography (CT)-measured body fat distribution and other obesity-related parameters in Korean female subjects. Methods & Results: The frequencies of $PPAR{\gamma}2$ genotypes were: PP type, 93.0%; PA type, 6.8%; and AA type, 0.2%. The frequency of the A allele was 0.035. Body weight (P .012), BMI (P .012), and waist-to-hip ratio (WHR) (P .001) were significantly higher in subjects with PA/AA compared with subjects with PP. When body composition was analyzed by bioimpedance analysis, lean body mass and body water content were similar between the 2 groups. However, body fat mass (P .003) and body fat percent (P .025) were significantly higher in subjects with PA/AA compared with subjects with PP. Among overweight subjects with BMI of greater than 25, PA/AA was associated with significantly higher abdominal subcutaneous fat (P .000), abdominal visceral fat (P .031), and subcutaneous upper and lower thigh adipose tissue (P .010 and .013). However, among lean subjects with BMI of less than 25, no significant differences associated with $PPAR{\gamma}2$ genotype were found, suggesting that the fat-accumulating effects of the PA/AA genotype were evident only among overweight subjects, but not among lean subjects. When serum lipid profiles, glucose, and liver function indicators were compared among overweight subjects, no significant difference associated with $PPAR{\gamma}2$ genotype was found. Changes in body weight, BMI, WHR, and body fat mass were measured among overweight subjects who finished a 1-month weight lose program of a hypocaloric diet and exercise; no significant differences associated with $PPAR{\gamma}2$ genotype were found. Conclusions: The results of this study suggest that the $PPAR{\gamma}2$ PA/AA genotype is associated with increased subcutaneous and visceral fat areas in overweight Korean female subjects, but does not significantly affect serum biochemical parameters and outcomes of weight loss programs.

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Three Years Follow-up Study for Changes in Body Composition and Physical Fitness by FTO Gene Polymorphism of Male Adolescence (청소년의 FTO유전자 다형에 따른 3년간 신체구성과 체력의 변화)

  • Park, Kijun;Kim, Junechul
    • Journal of The Korean Society of Integrative Medicine
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    • v.8 no.3
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    • pp.83-91
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    • 2020
  • Purpose : To identify changes and relationships in the fat mass and obesity associated (FTO) gene polymorphism, body composition, and physical fitness from childhood to adolescence over a three-year period spanning elementary school to middle school (2015-2018) Methods : A total of 84 male student participants were divided into two groups based on FTO genotype: aa+at (group A) and tt (group T) and tracked down. Body composition, cardiovascular endurance, flexibility, muscle strength, power, and other characteristics were measured in the two groups in both 2015 and 2018, respectively, and the changes over the three-year period were analyzed and compared. Results : Increases in height and weight did not differ significantly between the two groups, but body mass index (BMI) was significantly higher in group A (p=.035). With regard to physical fitness, there was no significant difference in flexibility, but cardiovascular endurance, strength, and power were significantly higher in group T (p<.001, p=.063, and p=.040, respectively). Conclusion : Group A is more likely to become obese than group T because of their lower level of physical fitness and increased BMI relative to group T. This result supports previous studies showing that group A has a relatively low level of physical activity and a greater tendency to eat fatty foods as compared with group T. Therefore, we suggest that the FTO gene polymorphism should be identified early and that students educated on diet and physical activity to help prevent adult obesity.

Effects of Sodium Intake on the Association between the Salt-Sensitive Gene, Alpha-Adducin 1 (ADD1), and Inflammatory Cytokines in the Prevalence of Children Obesity

  • Park, Mi-Young;Lee, Myoung-sook
    • Journal of Lipid and Atherosclerosis
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    • v.7 no.2
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    • pp.98-109
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    • 2018
  • Objective: To examine the effects of sodium intake on the correlations between the saltsensitive gene ${\alpha}$-adducin 1 (ADD1) and inflammatory cytokines in Korean childhood obesity. Methods: A total of 2,070 students aged 8-9 years old participated in this study. The anthropometrics, serum biochemistry profile, inflammatory cytokines, and three-day dietary assessment were analyzed according to sex, obesity degree, and ADD1 polymorphism. Results: The obesity prevalence was higher in boys (15.6%) than in girls (11.9%). Boys also showed higher values in anthropometrics; lipid, glucose, and insulin profiles; total calorie intakes, as well as those of sodium and calcium compared with those of the girls. The more obese were boys and girls, the higher were the anthropometrics and the blood levels (total cholesterol, triglyceride, low-density lipoprotein cholesterol, fasting blood sugar, and insulin), but the lower was high-density lipoprotein cholesterol. The obese boys had significantly higher sodium and Na/K intakes, while the obese girls had higher visfatin level and Na/K intake. In addition, an increase in the risk factors for blood pressure and obesity in ADD1 variants was identified. Serum tumor necrosis $factor-{\alpha}$($TNF-{\alpha}$) significantly increased with increasing sodium intake in the ADD1 W allele carriers, regardless of sex. The presence of obesity with the ADD1 W allele induced inflammatory accelerators such as $TNF-{\alpha}$ or C-reactive protein(CRP) with higher sodium intake. Conclusion: Obese children with an ADD1w allele can experience a more complex form of obesity than non-obese when exposed to an obesity-inducing environment and need to be controlled sodium intake in the diet.

The PNPLA3 rs738409 Variant but not MBOAT7 rs641738 is a Risk Factor for Nonalcoholic Fatty Liver Disease in Obese U.S. Children of Hispanic Ethnicity

  • Mansoor, Sana;Maheshwari, Anshu;Guglielmo, Matthew Di;Furuya, Katryn;Wang, Makala;Crowgey, Erin;Molle-Rios, Zarela;He, Zhaoping
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.24 no.5
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    • pp.455-469
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    • 2021
  • Purpose: The rs641738 C>T in membrane-bound O-acyltransferase domain-containing protein 7 (MBOAT7) is implicated, along with the rs738409 C>G polymorphism in patatin-like phospholipase domain-containing protein 3 (PNPLA3), in nonalcoholic fatty liver disease (NAFLD). The association of these polymorphisms and NAFLD are investigated in Hispanic children with obesity. Methods: Obese children with and without NAFLD were enrolled at a pediatric tertiary care health system and genotyped for MBOAT7 rs641738 C>T and PNPLA3 rs738409 C>G. NAFLD was characterized by the ultrasonographic presence of hepatic steatosis along with persistently elevated liver enzymes. Genetic variants and demographic and biochemical data were analyzed for the effects on NAFLD. Results: Among 126 enrolled subjects, 84 in the case group had NAFLD and 42 in the control group did not. The two groups had similar demographic distribution. NAFLD was associated with abnormal liver enzymes and elevated triglycerides and cholesterol (p<0.05). Children with NAFLD had higher percentage of PNPLA3 GG genotype at 70.2% versus 31.0% in non-NAFLD, and lower MBOAT7 TT genotype at 4.8% versus 16.7% in non-NAFLD (p<0.05). PNPLA3 rs738409 C>G had an additive effect in NAFLD; however, MBOAT7 rs641738 C>T had no effects alone or synergistically with PNPLA3 polymorphism. NAFLD risk increased 3.7-fold in subjects carrying PNPLA3 GG genotype and decreased in MBOAT7 TT genotype. Conclusion: In Hispanic children with obesity, PNPLA3 rs738409 C>G polymorphism increased the risk for NAFLD. The role of MBOAT7 rs641738 variant in NAFLD is less evident.

Effect of FTO Expression and Polymorphism on Fat Deposition in Suzhong Pigs

  • Fu, Yanfeng;Li, Lan;Ren, Shouwen
    • Asian-Australasian Journal of Animal Sciences
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    • v.26 no.10
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    • pp.1365-1373
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    • 2013
  • Fat mass and obesity associated gene (FTO) plays an important role in appetite control and energy consumption in human and mice. In order to examine FTO expression influence on fat deposition in Suzhong pigs, FTO mRNA expression was detected in 16 tissues by RT-PCR, FTO protein expression was detected in 5 tissues by western blot, and association of FTO polymorphism with meat quality traits was analyzed in Suzhong populations with 714 records. RT-PCR results revealed that FTO mRNA was expressed in all sixteen tissues with significant differences (p<0.05), expression in backfat was significantly higher than that of any other tissue (p<0.05), and expression in longissimus dorsi muscle had the second highest significance level (p<0.05). Western blot results demonstrated that FTO protein was highly expressed in backfat and longissimus dorsi muscle. Furthermore, FTO mRNA and protein expression in tissues of high-fat pigs was significantly higher than that of low-fat pigs (p<0.05), suggesting FTO expression had advantageous effects on fat deposition. FTO polymorphism results evidenced that at A227G locus, G allele seemed to have advantageous effects on fat deposition, indicating it could be a significant candidate gene for improving pork quality in Suzhong pigs.

The Combined Effect of β2- and β3-Adrenergic Receptor Genotypes on Hyperglycemic Risk in the Korean Population

  • Oh, Hyun-Hee;Kim, Kil-Soo;Park, Sun-Mi;Shin, Seung-Uoo;Yang, Hun-Sung;Yoon, Yoo-Sik
    • Preventive Nutrition and Food Science
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    • v.9 no.1
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    • pp.71-78
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    • 2004
  • Adrenergic receptors play a major role in thermogenesis and lipolysis in brown and visceral adipose tissues, and have been implicated in the pathogenesis of obesity and metabolic disorders. The purpose of this study was to estimate the effects of $\beta$2-adrenergic receptor ($\beta$2AR) and $\beta$3-adrenergic receptor ($\beta$3AR) genotypes on hyperglycemia and obesity in the Korean population. A representative sample consisting of 530 Korean men and women were measured for height, weight, BMI, WHR, obesity index and body composition. The genotypes of $\beta$2AR polymorphism in codon 27 and $\beta$3AR polymorphism in codon 64 were analyzed by the PCR RFLP method. Serum concentrations of fasting glucose, total cholesterol, HDL cholesterol and triglyceride were determined. The frequencies of $\beta$2AR and $\beta$3AR genotype were: both wild type, 62.5% ; only $\beta$2AR variant type, 12.8% ; only $\beta$3AR variant type, 18.8% ; and both variant type, 5.8% ; the frequency of E and R alleles were 0.098 and 0.137, respectively. Among the physiological parameters, fasting glucose level was significantly higher in subjects with both variant type compared with the three other types (p <0.05), Subjects with both variant type had 12%, 12% and 9.3% increases in serum glucose levels compared with wild type, only $\beta$2AR variant type, and only $\beta$3AR variant type, respectively. When logistic regression analysis was conducted to estimate the risk for hyperglycemia, the subjects were selected for fasting blood glucose concentrations of more than 6.105 m㏖/L (110 mg/dL), and the odds ratios were 1.215 (p=0.636) for only $\beta$2AR variant type,1.659 (p=0.089) for only $\beta$3AR variant type, and 3.078 (p=0.011) for both variant type. These results suggest that the interaction of $\beta$2AR and $\beta$3AR variant genotypes has a strong association with increased glucose levels, and might be a significant risk factor for hyperglycemia among Korean subjects.

Impact of GNB3, ADRB3, UCP2, and PPAR${\gamma}$-Pro12Ala polymorphisms on Boiogito response in obese subjects : A randomized, double-blind, placebo-controlled trial (방기황기탕의 유전자 다형성에 따른 비만 치료 효과 : 무작위 배정, 이중 맹검, 위약-대조군 임상시험)

  • Park, Jung-Hyun;Bose, Shambhunath;Lim, Chi-Yeon;Kim, Ho-Jun
    • Journal of Korean Medicine for Obesity Research
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    • v.12 no.2
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    • pp.28-43
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    • 2012
  • Objectives: The aim of the study was to investigate the efficacy of Boiogito for obesity. We examined the efficacy of Boiogito for obese patients and we expected the reaction of Boiogito would vary according to the single nucleotide polymorphism(SNPs). Methods: 111 subjects(body mass index${\geq}25m/kg^2$) were recruited and randomized to receive Boiogito(n=55) or Placebo(n=56) for 8weeks. Anthropometric factors, serum lipid profile, glucose, blood pressure(BP), pulse rate, resting metabolic rate and Korean version of obesity-related quality of life(KOQOL) scale measured at baseline and 8weeks. SNPs(${\beta}3$-adrenergic receptor(ADRB3), G protein ${\beta}3$(GNB3), peroxisome proliferator activated receptor gamma 2 gene(PPAR-${\gamma}2$), uncoupling protein(UCP2)) were conducted at baseline. Adverse reactions and safety outcome variables were also checked during trials. Results: Both groups showed significant improvement on obesity after treatment. Boiogito group decreased triglyceride than did control group and improved KOQOL. Boiogito showed a significant higher efficacy in C/T and T/T genotype of GNB3 gene / in Trp64 and Arg64 genotype of ADRB3 gene / in D/D genotype of UCP2 gene / in Pro/Pro genotype of PPAR-${\gamma}$ gene. Conclusions: Boiogito promoted obesity indexes without severe adverse reactions and proved its safety. Pharmacogenetical studies of Boiogito on obesity could be a effective method for the individualized treatment and prevention of obesity.

Comparision of PCR-RFLP, PCR-SSCP, Amplication Refractory Mutation System(ARMS) in Leu72Met Polymorphism of Ghrelin Gene (Ghrelin 유전자의 Leu72Met 다형성 분석에서 PCR-RFLP, PCR-SSCP, Amplication Refractory Mutation System(ARMS)의 비교분석)

  • Kang, Ju Sung;Kim, Se Rim;Kim, Sun Young;Joo, Chan Uhng;Cho, Soo Chul;Hwang, Pyoung Han
    • Clinical and Experimental Pediatrics
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    • v.48 no.10
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    • pp.1068-1075
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    • 2005
  • Purpose : The role of ghrelin, which promotes the secretion of growth hormone, was not well known until now. Recently it was found that the mutation of ghrelin gene is related to obesity and diabetes. This study is to find the screening method that can easily and effectively detect the polymorphism of Leu72Met in ghrelin gene of obesity patients and apply it to clinical usage. Methods : We compared PCR-RFLP, PCR-SSCP and ARMS methodologies for analyzing of the polymorphism of Leu72Met in ghrelin gene of obesity children, and also studied the merits and demerits of these methodologies. Results : In this study, we were able to find out the band of peculiar allele of Leu72Met in ghrelin gene using PCR-RFLP, PCR-SSCP and ARMS analyses. The polymorphism of Leu72Met in ghrelin gene determined by all above methodologies was in complete agreement. Compared to the PCR-RFLP and PCR-SSCP, ARMS analysis is simple, inexpensive and also consume less time. It is very sensitive to analyze the polymorphism and easy to understand the results of test. Conclusion : Though PCR-RFLP, PCR-SSCP and ARMS analyses were sensitive to analyze the polymorphism of Leu72Met in ghrelin gene, ARMS analysis appears to be more efficient than PCR-RFLP and PCR-SSCP. Therefore, we conclude that ARMS analysis is suitable to analyze the polymorphism of Leu72Met in ghrelin gene for large quantity of specimens.

Study of Gene-gene Interaction within GNB3, ACE, ADRB3, ADRB2 among Korean Female Subject (한국인 비만 여성의 GNB3, ACE, ADRB3, ADRB2 유전자 다형성간의 상호관계에 관한 연구)

  • Choi Hyun;Bae Hyun su;Hong Moo chang;Shin Hyun Dae;Shin Min Kyu
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.18 no.5
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    • pp.1426-1436
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    • 2004
  • There have been several reports on the relationship between G protein β3 subunit gene (GNB3), angiotensin converting enzyme gene (ACE), β3-adrenergic receptor gene (ADRB3), and β2-adrenergic receptor gene (ADRB2) genotype and obesity or obesity related disease. The objective of this study was to examine the relationship between the combinations of these four genes' polymorphism and probability of obesity related disease in Korean female subjects. The experimental group was consisted of 85 obese Korean female subjects (body mass index, BMI≥27㎏/㎡). To determine the polymorphism, genomic DNA was isolated, and PCR was performed. Serological examinations (fasting plasma glucose, FPG; aspartate aminotranferase, AST; alanine aminotransferase, ALT; total cholesterol, TC; triglyceride, TG; high density lipoprotein-cholesterol, HDL; low density lipoprotein-choles terol, LDL) were carried by an autoanalyzer and serological methods. BMI, waist circumference (WC), hip circumference and waist hip ratio (WHR) were measured. Consequencely in the analysis with grouping of general genotyping and variant allele carrier/non-carrier, the result was not significantly different within all gene combinations and polymorphic pairings except higher waist circumference in Arg16Arg group of ADRB2 codon16 (P=0.024). And there was no significantly contrast result about age, height, weight, AST and ALT that are index feature of liver and gall bladder disease in polymorphic pairings of gene combinations. However, the statistical analysis of waist-hip ratio and waist circumference that could be recognized as the physical type of obesity showed T-Arg16 pairing carrier in GNB3-ADRB2 codon16 combination had increased WHR and WC significantly (P=0.046 and P=0.015 respectively). Futhermore, the levels of total cholesterol (TC) and low density lipoprotein choresteral (LDL) were significantly lower in C-I pairing of GNB3-ACE combination (P=0.032 and P=0.005). These results suggest that the T-Arg16 pairing carrier in GNB3-ADRB2 codon16 gene might have increased waist circumference and C-I pairing carrier in GNB3-ACE combination have lower possibility of contraction of cardiovascular disease related cholesterol and LDL despite of obese state.