Grant-in-Aid for Scientific Research (B).
|Research Institution||Okinaka Memorial Institute for Medical Research|
MURASE Toshio Okinaka Memorial Institute for Medical Research, 主任研究員 (60107612)
塚田 理康 冲中記念成人病研究所, 主任研究員 (90072595)
関 顕 冲中記念成人病研究所, 主任研究員
大久保 実 冲中記念成人病研究所, 研究員 (60241238)
小林 哲郎 冲中記念成人病研究所, 研究員 (30113442)
|Project Fiscal Year
1991 – 1993
Completed(Fiscal Year 1993)
|Budget Amount *help
¥5,900,000 (Direct Cost : ¥5,900,000)
Fiscal Year 1993 : ¥2,100,000 (Direct Cost : ¥2,100,000)
Fiscal Year 1992 : ¥1,800,000 (Direct Cost : ¥1,800,000)
Fiscal Year 1991 : ¥2,000,000 (Direct Cost : ¥2,000,000)
|Keywords||Familial hypercholesterolemia / Coronary artery sclerosis / Serum cholesterol values / HDL-cholesterol / Lipoprotein (a) / Blood coagulation-fibrinolysis / HLA antigen / LDL receptor / 家族性高コレステロール血症 / 冠動脈硬化症 / 血清コレステロール値 / HDL-コレステロール / 高Lp(a)血症 / 凝固線溶系分子マーカー / HLA抗原 / LDLレセプター / 冠動脈硬化 / Lp(a) / LDLレセプター遺伝子変異 / 家族性高コレステロ-ル血症|
We have studied the factors responsible for the development of coronary artery sclerosis in adult patients with familial hypercholesterolemia (FH). The results are as follows :
1. Forty subjects (21%) had coronary heart disease (CHD). In many subjects (17/40cases), the disease developed before the age of 50 yr.
2. No sex difference was observed for the development of CHD.
3. Frequency of CHD among family members in subjects with CHD did not differ from that in subjects without CHD.
4. Subjects with serum cholesterol levels of more than 400mg/dl showed higheer frequency of CHD.Subjects with CHD had low HDL-cholesterol levels.
5. Many FH subjects had elevated serum levels of Lp(a). However, there was no difference in serum Lp(a) between subjects with and without CHD.
6. No abnormalities were observed in blood coagulation-fibrinolysis parameters in FH subjects.
7. No specific HLA antigen was related to the development of CHD in FH subjects.
8. One female subject who had CHD in her age of 37 yr was shown to be a new mutant in the LDL receptor gene (deletion of exons 9 & 10). Whether any specific gene mutation relates to the early development of CHD remains to be assessed in future studies.