Key result
Genetic factors explain ~41% of serum LDH variation, likely driven by multiple small-effect genes.
Why the study?
Serum lactate dehydrogenase levels are significantly determined by genetic factors, but the specific quantitative trait loci influencing LDH variation are not fully identified.
Observational
Variation in serum lactate dehydrogenase levels is highly heritable (41%) and likely controlled by multiple genes with small effects located outside the known LDH isoenzyme gene regions.
Serum lactate dehydrogenase (LDH) is used in diagnosing many diseases and is significantly determined by genetic factors. Three genes coding for LDH isoenzymes were mapped to chromosome 11q15 and 12p12. We used 330 Framingham Heart Study largest families for microsatellite linkage scan and 100K SNPs association scan to determine quantitative trait loci of LDH level. We estimated the heritability at 41%. Our genome-wide linkage analysis yielded several chromosomal regions, other than 11q and 12p, with LOD scores between 1 and 2.5. None of the 100K SNPs with a P-value <10(-4) in our genome-wide association study was close to the chromosomal regions where the LDH genes reside. Our study demonstrated a strong genetic effect on the variation of LDH levels. There may not be a single gene with a large effect, instead may be several genes with small effects in controlling the variation of serum LDH. Those genes may be located on chromosomal regions that differ from where the genes encoding LDH isoenzymes reside.
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Lin et al. (2010) conducted an observational in Serum lactate dehydrogenase (LDH) levels. Genetic variants (microsatellite linkage and 100K SNPs) was evaluated on Quantitative trait loci of serum LDH level. Genome-wide linkage and association scans demonstrated a strong genetic effect on serum LDH variation with an estimated heritability of 41%, likely driven by multiple genes with small effects.
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