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Association between a rare SNP in the second intron of human Agouti related protein gene and increased BMI.

ABSTRACT: BACKGROUND: The agouti related protein (AGRP) is an endogenous antagonist of the melanocortin 4 receptor and is one of the most potent orexigenic factors. The aim of the present study was to assess the genetic variability of AGRP gene and investigate whether the previously reported SNP rs5030980 and the rs11575892, a SNP that so far has not been studied with respect to obesity is associated with increased body mass index (BMI). METHODS: We determined the complete sequence of the AGRP gene and upstream promoter region in 95 patients with severe obesity (BMI > 35 kg/m2). Three polymorphisms were identified: silent mutation c.123G>A (rs34123523) in the second exon, non-synonymous mutation c.199G>A (rs5030980) and c.131-42C>T (rs11575892) located in the second intron. We further screened rs11575892 in a selected group of 1135 and rs5030980 in group of 789 participants from the Genome Database of Latvian Population and Latvian State Research Program Database. RESULTS: The CT heterozygotes of rs11575892 had significantly higher mean BMI value (p = 0.027). After adjustment for age, gender and other significant non-genetic factors (presence of diseases), the BMI levels remained significantly higher in carriers of the rs11575892 T allele (p = 0.001). The adjusted mean BMI value of CC genotype was 27.92 +/- 1.01 kg/m2 (mean, SE) as compared to 30.97 +/- 1.03 kg/m2 for the CT genotype. No association was found between rs5030980 and BMI. CONCLUSION: This study presents an association of rare allele of AGRP polymorphism in heterozygous state with increased BMI. The possible functional effects of this polymorphism are unclear but may relate to splicing defects.

SUBMITTER: Kalnina I

PROVIDER: S-EPMC2714840 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature

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Association between a rare SNP in the second intron of human Agouti related protein gene and increased BMI.

Kalnina Ineta I Kapa Ivo I Pirags Valdis V Ignatovica Vita V Schiöth Helgi B HB Klovins Janis J

BMC medical genetics 20090714

<h4>Background</h4>The agouti related protein (AGRP) is an endogenous antagonist of the melanocortin 4 receptor and is one of the most potent orexigenic factors. The aim of the present study was to assess the genetic variability of AGRP gene and investigate whether the previously reported SNP rs5030980 and the rs11575892, a SNP that so far has not been studied with respect to obesity is associated with increased body mass index (BMI).<h4>Methods</h4>We determined the complete sequence of the AGR ...[more]

PMID: 19602223

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Project description:BACKGROUND:Existing studies reporting on the levels of physical fitness among college students used relatively few fitness tests as a reflection of physical fitness, which could not comprehensively evaluate the levels of physical fitness. Thus, the current study aimed to investigate the cross-sectional relationship between body mass index (BMI) and a physical fitness index (PFI) based on six indicators of fitness in Chinese college students. METHOD:Anthropometric measurements and six measures of physical fitness (Vital capacity, 50-m sprint, sit and reach, standing long jump, 800/1000-m run, pull-up/bent-leg sit-up) were measured. BMI was calculated to classify individuals into underweight, normal weight, overweight, and obesity groups. Z-scores based on sex-specific mean and standard deviation were calculated, and the sum of z-scores for the six fitness tests was used as a PFI. Three models (a linear regression model, polynomial regression model with a second-order BMI term and a restricted cubic spline regression model) were fitted to discuss the potential relation between BMI and PFI. We compared the models using Akaike Information Criterion (AIC) and R square. RESULTS:Totally, 8548 freshmen from the years 2014 to 2016 in a medical college completed the physical fitness tests. There was a decreasing trend of physical fitness index from the years 2014 to 2016 (P for trend <?0.01). More male than female students were overweight or obese (23.5% vs. 11.9%), but more female than male students were normal weight (74.7% vs. 64.8%). A restricted cubic spline regression model was superior to linear and polynomial regression model with lower AIC and higher R square. CONCLUSIONS:The relationships between BMI and PFI in college students were non-linear. Underweight, overweight and obese students had poorer performance in physical fitness index than normal weight students. Future prospective, longitudinal cohort studies to identify the causal relations and potential mechanism in a good manner are required.

Dataset Information

Association between a rare SNP in the second intron of human Agouti related protein gene and increased BMI.

Publications

Association between a rare SNP in the second intron of human Agouti related protein gene and increased BMI.

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