Abstract

BackgroundBody Mass Index (BMI) is widely regarded as an important clinical trait for obesity and other diseases such as Type 2 diabetes, coronary heart disease, and osteoarthritis.MethodsThis study uses 6,011 samples of genotype data from ethnic Korean subjects. The data was retrieved from the Korea Association Resource. To identify the BMI-related markers within the Korean population, we collected genome-wide association study (GWAS) markers using a GWAS catalog and also obtained other markers from nearby regions. Of the total 6,011 samples, 5,410 subjects were used as part of a single nucleotide polymorphism (SNP) selection set in order to identify the overlapping BMI-associated SNPs within a 10-fold cross validation.ResultsWe selected nine SNPs (rs12566985 (FPGT-TNNI3K), rs6545809 (ADCY3), rs2943634 (located near LOC646736), rs734597 (located near TFAP2B), rs11030104 (BDNF), rs7988412 (GTF3A), rs2241423 (MAP2K5), rs7202116 (FTO), and rs6567160 (located near LOC105372152) to assist in BMI prediction. The calculated weighted genetic risk scores based on the selected 9 SNPs within the SNP selection set were applied to the final validation set consisting of 601 samples. Our results showed upward trends in the BMI values (P < 0.0001) within the 10-fold cross validation process for R2 > 0.22. These trends were also observed within the validation set for all subjects, as well as within the validation sets divided by gender (P < 0.0001, R2 > 0.46).DiscussionThe set of nine SNPs identified in this study may be useful for prospective predictions of BMI.

Highlights

  • Body Mass Index (BMI) is widely used as a diagnostic measurement of obesity which in turn is related to various diseases such as heart disease, Type 2 diabetes, hypertension, and osteoarthritis (1998)

  • The results of each set of 10-fold cross-validations show that the BMI values increased in all training sets and corresponding test sets with respect to weighted genetic risk score (wGRS) for P-values of 0.2

  • Of the 28 single nucleotide polymorphisms (SNPs) applied to the cross-validation process, we selected only nine SNPs which overlapped across all 10-fold cross-validations conducted for BMI prediction

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Summary

Introduction

Body Mass Index (BMI) is widely used as a diagnostic measurement of obesity which in turn is related to various diseases such as heart disease, Type 2 diabetes, hypertension, and osteoarthritis (1998). Because of the important role BMI plays, numerous genomewide association studies (GWAS) have been conducted to identify BMI-associated single nucleotide polymorphisms (SNPs). From these studies, researchers have identified several significant genes found to be related to BMI such as FTO, BDNF, and MC4R, among others (Felix et al, 2016; Locke et al, 2015; Speliotes et al, 2010). Using these results, several studies have developed prediction models for BMI and obesity among various ethnic groups (Bae et al, 2016; Hung et al, 2015; Peterson et al, 2014).

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