A presumptive new locus for autosomal dominant hypercholesterolemia mapping to 8q24.22

Clinical Genetics
A CenarroF Civeira

Abstract

Molecular testing of patients with autosomal dominant hypercholesterolemia (ADH) fails to detect a causal functional mutation in 15.25% of subjects. We studied an ADH pedigree in which known ADH-causing genes (LDLR, APOB and PCSK9) were excluded. Genome-wide analysis on 15 family members detected significant association for ADH and dbSNP RS ID rs965814 (G/A), located in 8q24.22 cytoband. ADH was significantly associated to rs965814 G allele (p < 0.05) in a case-control study based on 200 unrelated ADH subjects without LDLR or APOB gene defects and 198 normolipidemic controls. We chose 24 markers for a detailed analysis of 8q24.22 cytoband, now based on an extended set of family members (21 individuals). One particular 24 marker haplotype was significantly associated to both higher total and low-density lipoprotein-cholesterol concentrations. Similar results were found for a shorter haplotype, composed of the distal six markers from the complete haplotype. Therefore, a presumptive new locus for ADH could be located in 8q24.22 cytoband, a region not previously linked or associated to ADH.

References

May 6, 2003·Nature Genetics·Marianne AbifadelCatherine Boileau
Jun 19, 2003·The Journal of Clinical Investigation·Daniel J RaderHelen H Hobbs
Nov 22, 2007·Clinical Genetics·M VarretC Boileau

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Citations

Jul 6, 2014·Journal of Medical Genetics·Marta FutemaSteve E Humphries
Sep 14, 2016·The American Journal of Cardiology·Peter P Toth
Nov 12, 2020·Frontiers in Genetics·Qianyun GuoYujie Zhou
Jun 1, 2021·Atherosclerosis·Yara Abou KhalilMathilde Varret

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