• 제목/요약/키워드: Leptin receptor polymorphism

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렙틴 수용체 유전자 다형성에 따른 대학생의 생화학 지표와 체지방 분포에 관한 연구 (Study on Biochemical Parameters and Body Fat Mass according to Leptin Receptor Polymorphism in University Students)

  • 김경희;조희숙
    • 동아시아식생활학회지
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    • 제22권2호
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    • pp.219-223
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    • 2012
  • The purpose of this study was to investigate the body composition, biochemical parameters, and consumption of convenience foods according to leptin receptor polymorphism in university students. A survey was conducted on a total of 418 students - 271 males and 147 females. Based on a self-reporting method, questionnaires were administered for over 20 minutes, and leptin receptor and blood samples were analyzed. The genotype frequencies of leptin receptor polymorphism were Gln/Arg heterozygote (64.8%) and Gln/Gln homozygote (35.2%). Leptin polymormphism showed no significant association with biochemical parameters(ALT, cholesterol, triglyceride, HDL-cholesterol, LDL-cholesterol, and hemoglobin) and body composition. GG homozygote was associated with a higher risk of visceral fat obesity compared to those with GA heterozygote (odd ratio 1.758, 95% confidence intervals 0.812~3.803). Leptin polymorphism appeared to be a genetic risk factor for visceral fat obesity. This study suggests that leptin polymorphism has a causative role to body fat distribution in Korean.

The Relationship of Leptin (+19) AG, Leptin (2548) GA, and Leptin Receptor Gln223Arg Gene Polymorphisms with Obesity and Metabolic Syndrome in Obese Children and Adolescents

  • Bilge, Serap;Yilmaz, Resul;Karaslan, Erhan;Ozer, Samet;Ates, Omer;Ensari, Emel;Demir, Osman
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • 제24권3호
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    • pp.306-315
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    • 2021
  • Purpose: Obesity is defined as the abnormal or excessive accumulation of fat over acceptable limits. Leptin is a metabolic hormone present in the circulation in amounts proportional to fat mass. Leptin reduces food intake and increases energy expenditure, thus regulating body weight and homeostasis. Various polymorphisms are present in the leptin gene and its receptor. These polymorphisms may be associated with obesity. This study aimed to show the association of leptin (+19) AG, leptin (2548) GA, and Gln223Arg leptin receptor polymorphisms with obesity and metabolic syndrome in Turkish children aged 6-17 years, and to conduct further investigations regarding the genetic etiology of obesity. Methods: A total of 174 patients diagnosed with obesity and 150 healthy children who were treated at Tokat Gaziosmanpasa Medical School Hospital between September 2014 and March 2015 were included in this study. The ages of the children were between 6 and 17 years, and anthropometric and laboratory results were recorded. Genotyping of leptin (+19) AG, leptin (2548) GA, and leptin receptor Gln223Arg polymorphisms was performed by polymerase chain reaction. Results: An association between leptin receptor Gln223Arg gene polymorphism and obesity was detected. Conclusion: Further studies are needed to determine the role of genetic etiologies and to indicate the role of leptin signal transmission impairment in the pathogenesis of obesity. We hope that gene therapy can soon provide a solution for obesity.

Genetic Variations of Eight Candidate Genes in Korean Obese Group

  • Kang, Byung-Youn;Lee, Kang-Oh;Bae, Joon-Seol;Kim, Ki-Tae;Yoon, Moon-Young;Lim, Seok-Rhin;Seo, Sang-Beom;Shin, Jung-Hee;Lee, Chung-Choo
    • 한국환경성돌연변이발암원학회지
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    • 제22권1호
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    • pp.39-46
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    • 2002
  • Obesity is a complex metabolic disorder with a strong genetic component. There are many candidate genes for obesity and its related phenotypes. We studied genetic variations between Korean obese and lean groups. Polymorphisms investigated were the Msp I polymorphism of the $\alpha$$_{2A}$-adrenergic receptor ($\alpha$$_{2A}$-AR) gene, the Mnl I polymorphism of the $\alpha$$_2$-adrenergic receptor ($\alpha$$_2$-AR) gene, the BstO I polymorphism of the $\beta$$_3$-adrenergic receptor ($\beta$$_3$-AR) gene, the Pml I polymorphism of the lamin A/C (LMNA) gene, the Hga I polymorphism of the clearance receptor (NPRC) gene, the Msp I polymorphism of the leptin gene, BclI polymorphism of the uncoupling protein 1 (UCPI) gene and the Hha I polymorphism of the fatty acid binding protein 2 (FABP2) gene. Among these genetic markers, Pml I polymorphism at the LMNA gene and Bcl I polymorphism at the UCP1 gene were significantly associated with obesity. However, further studies are required whether thease findings are reproduced in large population, although two polymorphisms might be useful as genetic markers in the ethiology of obesity in Korean population.ion.

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Association between LEPR Genotype and Gut Microbiome in Healthy Non-Obese Korean Adults

  • Yoon Jung Cha;In Ae Chang;Eun-Heui Jin;Ji Hye Song;Jang Hee Hong;Jin-Gyu Jung;Jung Sunwoo
    • Biomolecules & Therapeutics
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    • 제32권1호
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    • pp.146-153
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    • 2024
  • The LEPR (leptin receptor) genotype is associated with obesity. Gut microbiome composition differs between obese and non-obese adults. However, the impact of LEPR genotype on gut microbiome composition in humans has not yet been studied. In this study, the association between LEPR single nucleotide polymorphism (rs1173100, rs1137101, and rs790419) and the gut microbiome composition in 65 non-obese Korean adults was investigated. Leptin, triglyceride, low-density lipoprotein cholesterol, and high-density lipoprotein cholesterol levels were also measured in all participants. Mean ± SD (standard deviation) of age, body mass index, and leptin hormone levels of participants was 35.2 ± 8.1 years, 21.4 ± 1.8 kg/m2, and 7989.1 ± 6687.4 pg/mL, respectively. Gut microbiome analysis was performed at the phylum level by 16S rRNA sequencing. Among the 11 phyla detected, only one showed significantly different relative abundances between LEPR genotypes. The relative abundance of Candidatus Saccharibacteria was higher in the G/A genotype group than in the G/G genotype group for the rs1137101 single nucleotide polymorphism (p=0.0322). Participant characteristics, including body mass index, leptin levels, and other lipid levels, were similar between the rs1137101 G/G and G/A genotypes. In addition, the relative abundances of Fusobacteria and Tenericutes showed significant positive relationship with plasma leptin concentrations (p=0.0036 and p=0.0000, respectively). In conclusion, LEPR genotype and gut microbiome may be associated even in normal-weight Korean adults. However, further studies with a greater number of obese adults are needed to confirm whether LEPR genotype is related to gut microbiome composition.

Association of leptin, toll-like receptor 4, and chemokine receptor of interleukin 8 C-X-C motif single nucleotide polymorphisms with fertility traits in Czech Fleckvieh cattle

  • Jecminkova, Katerina;Muller, Uwe;Kyselova, Jitka;Sztankoova, Zuzana;Zavadilova, Ludmila;Stipkova, Miloslava;Majzlik, Ivan
    • Asian-Australasian Journal of Animal Sciences
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    • 제31권11호
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    • pp.1721-1728
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    • 2018
  • Objective: The use of genetic markers can help to enhance reproduction in cattle, which is a very important trait for profitability in dairy production systems. This study evaluated the association between genotypes of leptin (LEP), toll-like receptor 4 (TLR4), and chemokine receptor of interleukin 8 C-X-C motif (CXCR1) genes and fertility traits in Czech Fleckvieh cattle. Methods: Phenotypic data from 786 Czech Fleckvieh cows raised on 5 farms in the Czech Republic were used, along with information from the 1st three parities. To determine genotype, the polymerase chain reaction-restriction fragment length polymorphism method was used. Results: Except for LEP g.-963C>T, all studied genotype frequencies of single nucleotide polymorphisms (SNPs) were distributed according to the Hardy-Weinberg equilibrium. Two LEP SNPs (g.-963C>T and c.357C>T) were associated with the age at the 1st calving, days open (DO), pregnancy rate after 1st service (PR), and calving interval (CLI). In LEP g.-963C>T the TT genotype heifers firstly calved 24 days earlier than CC genotype and the CT genotype cow showed a tendency for shorter DO and higher PR. In LEP c.357C>T we observed longer CLI and DO period in TT cows. In general, we can propose the TT genotype of g.-963C>T as favorable and the TT genotype of c.357C>T as unfavorable for a cow's fertility. Heterozygotes in TLR4 c.-226C>G were significantly associated with shorter CLI, and presented a nonsignificant tendency to be associated with higher PR. In CXCR1 c.777 C>G, we did not observe any relationship of this SNP with reproduction. Conclusion: Overall, the results showed that LEP could be an effective marker for improving reproduction in Czech Fleckvieh cattle. This study also provides novel insights into the relationship between TLR4 and CXCR1 SNPs and reproduction in dual-purpose cattle.

Association of Leptin Receptor Lys109Arg and Gln223Arg Polymorphisms with Increased Risk of Clear Cell Renal Cell Carcinoma

  • Mu, Hui-Jun;Zou, Jian;Xie, Ping;Xu, Zhuo-Qun;Ruan, Jun;Yang, Shu-Dong;Yin, Ying
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권10호
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    • pp.4211-4215
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    • 2014
  • Background: Although roles of genetic polymorphisms of leptin receptor (LEPR) gene in several cancers have been documented, the association between polymorphisms of LEPR and clear cell renal cell carcinoma (CC-RCC) remains unknown. The aim of this study was to explore any relation. Materials and Methods: The study population consisted of 77 patients with CC-RCC and 161 healthy control subjects. Polymorphism analyses of Lys109Arg and Gln223Arg were performed by direct DNA sequencing and PCR-restriction fragment length polymorphism approaches respectively. Results: Comparisons of allelic and genotypic frequencies in Lys109Arg and Gln223Arg showed no significant difference between the cases and controls. However, when evaluating the combined genotype of Lys109Arg and Gln223Arg, risk with GG/GG was increased (OR=1.85, 95%CI=1.04-3.30) and with GA/GG or GG/GA was decreased (OR=0.07, 95%CI=0.01-0.54; OR and 95%CI of the latter could not be calculated for a value of zero). Furthermore, the G-G haplotype frequency of Lys109Arg and Gln223Arg in the cases was higher (OR=1.68; 95%CI=1.02-2.76). In contrast, the A-G and G-A haplotype frequencies in the cases were lower than those in the controls (OR=0.06; 95%CI=0.01 to 0.47; OR and 95%CI of the latter could not be calculated for a value of zero). In addition, the Lys109Arg A allele was in LD with the Gln223Arg A allele (d'=0.9399) in the CC-RCC subjects, but not in the controls. Conclusions: Our data suggest that the GG/GG combined genotype and G-G haplotype of Lys109Arg and Gln223Arg can act as evaluating factors for CC-RCC risk.

Analysis on Association of a SNP in the Chicken OBR Gene with Growth and Body Composition Traits

  • Wang, Ying;Li, Hui;Zhang, YuanDan;Gu, ZhiLiang;Li, ZhiHui;Wang, QiGui
    • Asian-Australasian Journal of Animal Sciences
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    • 제19권12호
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    • pp.1706-1710
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    • 2006
  • Leptin receptor (OBR) is a member of the class I cytokine receptor family. It signals mainly via the JAK/STAT pathway and plays an important role in regulating body energy storage and metabolism. This study was designed to investigate the effects of the OBR gene on chicken growth and body composition. Broiler lines selected divergently for or against abdominal fat were used. Primers for the exon9-region in the OBR gene were designed using chicken genomic sequences from the public genome domain. A C/A single nucleotide polymorphism (SNP) was found and its three genotypes (AA, AB and BB) were identified in this population. The results showed that the OBR polymorphism was associated with fatness traits, such as abdominal fat weight and abdominal fat percentage. This research suggests that OBR or a linked gene has effect on fat deposition in the chicken.

두록 돼지의 등지방두께와 연관된 렙틴수용체 유전자의 신규 SNP 마커 (A Novel Single Nucleotide Polymorphism of the Leptin Receptor Gene Associated with Backfat Thickness in Duroc Pigs)

  • 이경태;이혜영;최봉환;김종주;김태헌
    • 생명과학회지
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    • 제26권1호
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    • pp.1-7
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    • 2016
  • 돼지에게 있어서 지방 형질은 가장 중요한 경제형질 중 하나다. 돼지의 렙틴수용체 유전자(LEPR)는 염색체 상의 위치와 그 생리 활성 측면에서 돼지 6번 염색체 상의 지방형질 관련 양적형질좌위(QTL)에 대한 주요 후보유전자로 알려져 있다. 본 연구에서는 LEPR 유전자의 구조 변이와 돼지 경제형질과의 연관성을 분석하였다. 이를 위하여 돼지 LEPR 유전자를 포함하고 있는 박테리아 인공 염색체(BAC) 클론에 대한 샷건 염기서열 해독을 수행하여 114 kb 크기의 유전체 서열을 확보하였다. 그리고 전사개시 코돈으로부터 1.2 kb 상위 영역에서 여러 전사인자 결합부위를 발견하였다. 또한 LEPR 유전자 엑손 영역의 6개 SNP와 5’ 조절영역의 18개 SNP에 대해 550두의 두록 개체를 대상으로 연관성 분석을 수행하였다. 이들 SNP 중, −790C/G만이 등지방두께와 정육율 형질과 유의적으로 연관되어 있었으며, 2개의 미스센스 다형성 SNP를 포함하여 다른 SNP에서는 어떤 형질과도 연관성을 보이지 않았다. 결론적으로 −790C/G SNP는 두록 돼지에서 지방과 정육형질을 유전적으로 개량하는데 유용한 마커로 활용될 수 있을 것이다.