Genome-wide association study on serum alkaline phosphatase levels in a Chinese populationReport as inadecuate

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BMC Genomics

, 14:684

Human and rodent genomics


BackgroundSerum alkaline phosphatase ALP is a complex phenotype influenced by both genetic and environmental factors. Recent Genome-Wide Association Studies GWAS have identified several loci affecting ALP levels; however, such studies in Chinese populations are limited. We performed a GWAS analyzing the association between 658,288 autosomal SNPs and serum ALP in 1,461 subjects, and replicated the top SNPs in an additional 8,830 healthy Chinese Han individuals. The interactions between significant locus and environmental factors on serum ALP levels were further investigated.

ResultsThe association between ABO locus and serum ALP levels was replicated P = 2.50 × 10, 1.12 × 10 and 2.82 × 10 for SNP rs8176720, rs651007 and rs7025162 on ABO locus, respectively. SNP rs651007 accounted for 2.15% of the total variance of serum ALP levels independently of the other 2 SNPs. When comparing our findings with previously published studies, ethnic differences were observed across populations. A significant interaction between ABO rs651007 and overweight and obesity was observed FDR for interaction was 0.036; for individuals with GG genotype, those with normal weight and those who were overweight or obese have similar serum ALP concentrations; minor allele A of rs651007 remarkably reduced serum ALP levels, but this effect was attenuated in overweight and obese individuals.

ConclusionsOur findings indicate that ABO locus is a major determinant for serum ALP levels in Chinese Han population. Overweight and obesity modifies the effect of ABO locus on serum ALP concentrations.

KeywordsGenetic variations Serum alkaline phosphatase Heterogeneity GWAS Gene-environment interaction Electronic supplementary materialThe online version of this article doi:10.1186-1471-2164-14-684 contains supplementary material, which is available to authorized users.

Jun Li, Lixuan Gui contributed equally to this work.

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Author: Jun Li - Lixuan Gui - Chen Wu - Yunfeng He - Li Zhou - Huan Guo - Jing Yuan - Binyao Yang - Xiayun Dai - Qifei Deng - Su



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