ESTIMATION OF HERITABILITY OF FAMILIAL HYPERCHOLESTEROLEMIA AMONG 335 FAMILY MEMBERS OF FIVE HYPERCHOLESTEROLEMIC PROBANDS OF PAKISTANI POPULATION
Abstract
Background: Familial hypercholesterolemia is an autosomal dominant disorder, caused by mutation inLow-density lipoprotein receptor (LDL-R) gene. Methods: Cross-sectional study conducted to recruit the
population of Karachi-Pakistan, screened for familial hypercholesterolemia. A total of 1523 hypercholesterolemic individuals have taken part in the study, five were found to be familial hypercholesterolemia. Their lipids profile was estimated and a family pedigree was drawn. Results: Parentoffspring correlation, coefficient of linear regression, and heritability is calculated by using SPSS 12.0. A
significant positive correlation of cholesterol was found among parents and their offspring (r=0.511,
p=0.01, n=76). Coefficient of linear regression analysis also showed that parents-offspring relationship
was highly significant at p<0.01 with b=0.438. Relationship between Father-Son, Father-Daughter,
Mother-Son and Mother-Daughter were highly significant with b=0.794, 0.41, 0.766 and 0.56
respectively. Conclusion: The heritability among the parents and their offspring showed that genetic
factors are major determinant of the familial resemblance in serum cholesterol among the Pakistani
population living in the metropolitan area of Karachi.
Keywords: Familial hypercholesterolemia, heritability, pedigree analysis
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