Evaluation of the occurrence of familial hypercholesterolemia among Filipinos in the Philippines using and molecular genetic approaches

Date

10-1998

Abstract

The occurrence of familial hypercholesterolemia (FH) among Filipinos in the Philippines was evaluated using clinical and molecular genetic approaches. The clinical approach was based on the cholesterol profile of the prospective subjects of the study to identify suspected FH individuals together with other factors such as age and gender, diet and lifestyle, and the occurrence of cardiovascular disease among the subjects. The molecular genetic approach used was the PCR-based single strand conformation polymorphism (SSCP) analysis which may allow the molecular identification of familial hypercholesterolemic patients, and thus, may become a diagnostic tool for FH condition. The study initially surveyed some 37,500 patients from the blood chemistry records of the cooperating hospitals. From these patients, 332 were found hypercholesterolemics based on their total serum cholesterol. From the 332, some 75 individuals were suspected with familial hypercholesterolemia based on their LDL and HDL cholesterol levels, and based on their blood sugar and creatinine levels within the normal range. The final population of the study was 64 as 11 were deceased. It found that among the 64 suspected FH, the incidence of hypercholesterolemia was higher among males than females especially in age group 30-40. The rise of serum total and LDL cholesterol levels goes with age as observed among ages 50-60 where mean cholesterol were highest. About 52% of the subjects showed manifestations of cardiovascular disease or any hypercholesterol-related disorder. Also 33% of them were vegetarians, 78% nonsmoker/nondrinkers, and 28% were engaged in regular fitness program. Age showed a significant relationship with total and LDL cholesterol levels. The increase of total and LDL cholesterol levels, and the incidence of cardiovascular disease was found related with age. Based on the occurrence of cardio vascular disease (CVD), the total pedigree score of families with suspected FH subjects ranged from 8-35 which does not necessarily reflect the occurrence of FH in the family but rather the occurrence of CVD among family members of each suspected FH patients. The SSCP analysis was not found conclusive because of the observed extra bands need to be further verified. Nevertheless, the study laid the first attempt to use SSCP as a molecular genetic approach in the evaluation of FH under local conditions.

Document Type

Dissertation

Degree

Doctor of Philosophy in Genetics

College

Graduate School (GS)

Adviser/Committee Chair

Rita P. Laude

Co-adviser

Saturnina C. Halos

Committee Member

Madeline M. Suva, Merlyn S. Mendioro, Desiree M. Hautea

Language

English

LC Subject

Hypercholesterolemia

Location

UPLB Main Library Special Collections Section (USCS)

Call Number

LG 996 1998 G2 T35

Notes

Doctor of Philosophy (Genetics)

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