Why the study?
Pathogenetic LDLR mutations had not previously been identified in familial hypercholesterolemia patients of Iranian-Armenian ancestry.
Cohort (n=366,998)
Yes
We used polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) analysis to detect a mutation in the low density lipoprotein receptor (LDLR) gene in a family of Iranian-Armenian origin. The mutation, designated FH Yrmeih, deletes two nucleotides from exon 10 of the LDLR gene, which causes a translational frameshift, whereby a truncated LDLR protein of the first 471 residues of the LDLR with an additional 41 abnormal residues and a premature stop codon would be created. The deletion was detected in a father and son with clinical features of heterozygous FH. To our knowledge this is the first pathogenetic LDLR mutation identified in FH patients of Iranian-Armenian ancestry.
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Jensen et al. (1996) conducted a cohort in Cardiometabolic diseases and traits (n=366,998). Rare damaging coding variants (loss-of-function and predicted-deleterious missense variants with MAF < 0.1%) vs. Non-carriers of rare damaging variants was evaluated on Exome-wide gene-based associations with 57 medical conditions and 26 quantitative cardiometabolic traits (FDR Q < 0.01) (OR 5.6 (median across significant binary disease associations), p=<5.44x10^-7).
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