• Fauzia Imtiaz


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 thepopulation 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. Asignificant 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 relationshipwas 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 0.56respectively. Conclusion: The heritability among the parents and their offspring showed that geneticfactors are major determinant of the familial resemblance in serum cholesterol among the Pakistanipopulation living in the metropolitan area of Karachi.Keywords: Familial hypercholesterolemia, heritability, pedigree analysis


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