title: Hypercholesterolemia in five Israeli Christian-Arab kindreds is caused by the "Lebanese" allele at the low density lipoprotein receptor gene locus and by an additional independent major factor.
abstract: Segregation analyses were performed for plasma low density lipoprotein cholesterol (LDL-C), triglycerides (TG) and high density lipoprotein cholesterol (HDL-C) in five Christian Arab kindreds identified through probands with familial hypercholesterolemia. In this subset of the Christian Arab community, the results were consistent with major gene determination of LDL-C with allele frequency (q) of 0.042 (95% confidence interval 0.008-0.079) in addition to polygenic transmission (h2 = 0.34). The "Lebanese" allele was identified directly by polymerase chain reaction and HinfI restriction analysis. Analysis of this mutation permits direct diagnosis of familial hypercholesterolemia in most affected individuals although our results indicated the possible existence of an additional independent factor leading to elevated LDL-C levels. The segregation results for TG indicated the presence of a major effect, although the existence of a major gene could not be demonstrated. There was also no evidence of a major locus effect on HDL-C levels.
authors.affiliation: Department of Medicine B, Hadassah University Hospital, Jerusalem, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Oppenheim
authors.forename: Y
authors.initials: Y
authors.lastname: Friedlander
authors.forename: E J
authors.initials: EJ
authors.lastname: Dann
authors.forename: N
authors.initials: N
authors.lastname: Berkman
authors.forename: S P
authors.initials: SP
authors.lastname: Schwartz
authors.forename: E
authors.initials: E
authors.lastname: Leitersdorf
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002835:Christianity; D004247:DNA; D005260:Female; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D005838:Genotype; D006801:Humans; D006937:Hypercholesterolemia / Q000208:ethnology / Q000235:genetics*; D007223:Infant; D007514:Islam; D007557:Israel; D007861:Lebanon / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D008957:Models, Genetic; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D011973:Receptors, LDL; D004247:DNA