AI Article Synopsis
- - The study focuses on identifying genetic variants associated with familial hypercholesterolemia (FH) in Latvian patients, as there is limited existing data on this condition in Latvia.
- - Whole genome sequencing was conducted on patients from the Latvian Registry of FH, revealing that 20.9% had pathogenic or likely pathogenic variants, primarily in the
- LDLR
- gene.
- - Although many patients had high LDL-cholesterol levels indicative of FH, the low diagnostic yield suggests that other genetic factors or mechanisms may play a role in this population.
Article Abstract
Background: There is limited data on the genetic characteristics of patients with familial hypercholesterolemia (FH) in Latvia. We aim to describe monogenic variants in patients from the Latvian Registry of FH (LRFH).
Methods: Whole genome sequencing with 30× coverage was performed in unrelated index cases from the LRFH and the Genome Database of Latvian Population. , , , , , , , , , and genes were analyzed. Only variants annotated as pathogenic (P) or likely pathogenic (LP) using the FH Variant Curation Expert Panel guidelines for and adaptations for and were reported.
Results: Among 163 patients, the mean highest documented LDL-cholesterol level was 7.47 ± 1.60 mmol/L, and 79.1% of patients had LDL-cholesterol ≥6.50 mmol/L. A total of 15 P/LP variants were found in 34 patients (diagnostic yield: 20.9%): 14 in the gene and 1 in the gene. Additionally, 24, 54, and 13 VUS were detected in and , respectively. No P/LP variants were identified in the other tested genes.
Conclusions: Despite the high clinical likelihood of FH, confirmed P/LP variants were detected in only 20.9% of patients in the Latvian cohort when assessed with genome-wide next generation sequencing.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419451 | PMC |
| http://dx.doi.org/10.3390/jcm12155160 | DOI Listing |
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