DETECTION OF AN AMINO-ACID POLYMORPHISM IN HORMONE-SENSITIVE LIPASE IN JAPANESE SUBJECTS

Hormone-sensitive lipase (HSL) plays an important role in energy metab olism by controlling the hydrolysis of triglycerides stored in adipose tissue. To investigate whether mutations in the HSL gene are associat ed with non-insulin-dependent diabetes mellitus (NIDDM), we screened f or mutations of this gene using single-stranded conformation polymorph ism (SSCP) in 35 Japanese subjects with NIDDM. SSCP analysis identifie d a variant pattern in exon 4, and the sequence showed that this varia nt pattern resulted from amino acid polymorphism (Arg309Cys). Subseque nt study showed that this polymorphism was found in 18 of 151 NIDDM pa tients and 10 of 97 nondiabetic subjects, but allele frequency was not significantly different between the two groups (P = .7). Body mass in dex, serum triglyceride, and high-density lipoprotein (HDL) cholestero l were not different in subjects with and without the polymorphism. Bu t serum total cholesterol was higher in subjects with the polymorphism than in subjects without it (P = .0005). These data indicate that thi s HSL polymorphism is not associated with NIDDM, obesity, and serum tr iglyceride level. However, an effect of the polymorphism to elevate se rum total cholesterol has not been excluded, although further study is necessary to resolve its association with cholesterol metabolism. Cop yright (C) 1996 by W.B. Saunders Company