Obesity Genetics : Functional Aspects of Four Genetic Loci Associated with Obesity and Body Mass

摘要: Background:The Fat mass and obesity-associated gene (FTO) was the first reliably associated with body index in genome-wide association studies on a population level. At present, genetic variations within FTO are still common variants that have largest influence index.Methods:In current study, we amplified entire gene, total 412 Kbp, over 200 long-range PCR fragments from each individual, 524 severely obese 527 lean Swedish children, sequenced products as two DNA pools using massive parallel sequencing (SOLiD).Results:The achieved very high coverage (median 18 000 reads) detected estimated allele frequencies for 705 single nucleotide polymorphisms (SNPs) (19 novel) 40 indels (24 sophisticated statistical approach to remove false-positive SNPs. We identified 19 SNPs intron one of validated our findings genotyping. Ten stronger obesity (P<0.007) than commonly studied rs9939609 SNP (P<0.012).Conclusions:This study provides comprehensive variation map FTO, identifies novel lead evaluates putative causative variants. conclude is only region obesity, finally, establish next generation pooled powerful method investigate complex diseases traits.