KLOTHO gene polymorphisms G-395A and C1818T are associated with lipid and glucose metabolism, bone mineral density and systolic blood pressure in Japanese healthy subjects.

Background: We investigated the association of KLOTHO gene single nucleotide polymorphisms (SNPs) with various laboratory data in 476 Japanese healthy subjects.

Methods: The genotyping of G-395A in the promoter region and C1818T in exon 4 was performed using PCR with confronting 2-pair primers assay.

Results: Multivariate analysis adjusted for age demonstrated that in men, body-fat ratio was high, and HDL cholesterol level was low in A allele carriers of G-395A compared with GG. In women, glucose was high in A allele carriers of G-395A compared with GG, and also in T allele carriers of C1818T compared with CC. When divided into 2 groups according to age, in men <60 y, body mass index, body-fat ratio and waist circumference were high in A carriers of G-395A compared with GG. In women <60 y, bone mineral density was high in A allele carriers of G-395A compared with GG, and systolic blood pressure and glucose were high in T carriers of C1818T compared with CC.

Conclusions: KLOTHO gene SNPs G-395A and C1818T are associated with lipid metabolism in men, and glucose metabolism, bone mineral density and systolic blood pressure in women.