The Genetic Variations of RETNLB Gene are Associated with Serum Levels of Alkaline Phosphatase in the Korean Population

Abstract

Serum levels of alkaline phosphatase (ALP) are widely used in the clinical diagnosis of hepatic diseases and the assessment of liver status. They also have epidemiological significance to be prospective risk factors for bone diseases,such as osteitis deformans, rickets, osteomalacia, hyperparathyroidism, healing fractures, and osteoblastic bone tumors. In the previous study, single nucleotide polymorphisms (SNPs) in several genes have been reported to be associated with serum levels of liver enzyme in American population. We aimed to confirm whether the genetic variation of RETNLB (resistin like beta) gene also influence the serum levels of liver enzyme in Korean population. We genotyped variants in or near RETNLB in a population-based sample including 994 Korean adults. Here, we performed association analysis to elucidate the possible relations of genetic polymorphisms in RETNLB gene with serum levels of liver enzyme. By examining genotype data of a total of 944 subjects in 5 hospital health promotion centers, we discovered the RETNLB gene polymorphisms are associated with serum levels of ALP. The common and highest significant polymorphism was rs736327 (β=8.66, P=2.37E-05), rs7639070 (β=8.56, P=3.24E-05) with ALP in all groups. Furthermore, the ALP was consistently associated with rs736327 (β=10.40, P=5.23E-05), rs7639070 (β=10.32, P=6.74E-05) in the male population. Consequently, we found statistically significant SNPs in RETNLB gene that are associated with serum levels of ALP. In addition, these results suggest that the individuals with the minor alleles of the SNP in the RETNLB gene may have elevated serum levels of ALP in the Korean population.