ArticleCardiovascular diabetology2011
Hypercholesterolemia and a candidate gene within the 12q24 locus.
Article in Cardiovascular diabetology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 13 citations in OpenAlex.
- Within and beyond the boundaries of proteasomal assembly: PSMD9 chaperone as a multifunctional protein.Essays in biochemistry · 2025Review
- Co-shared genetics and possible risk gene pathway partially explain the comorbidity of schizophrenia, major depressive disorder, type 2 diabetes, and metabolic syndrome.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2019Review
- T2D and Depression Risk Gene Proteasome Modulator 9 is Linked to Insomnia.Scientific reports · 2015Article
- Overweight condition and waist circumference and a candidate gene within the 12q24 locus.Cardiovascular diabetology · 2013Article
- Several genetic polymorphisms interact with overweight/obesity to influence serum lipid levels.Cardiovascular diabetology · 2012Article
- Proteasome modulator 9 SNPs are linked to hypertension in type 2 diabetes families.Cardiovascular diabetology · 2011Article
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1 author at 1 institution in 1 country.
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Abstract
backgroundThe 12q24 locus entails at least one gene responsible for hypercholesterolemia. Within the 12q24 locus lies the gene of proteasome modulator 9 (PSMD9). PSMD9 is in linkage with type 2 diabetes (T2D), T2D-nephropathy and macrovascular pathology in Italian families and PSMD9 rare mutations contribute to T2D.
aimsIn the present study, we aimed at determining whether the PSMD9 T2D risk single nucleotide polymorphisms (SNPs) IVS3 + nt460 A > G, IVS3 + nt437 T > C and E197G A > G are linked to hypercholesterolemia in 200 T2D Italian families.
methodsWe characterized 200 Italian families for presence and/or absence of hypercholesterolemia characterized by LDL levels ≥ 100 mg/dl in drug-naïve patients and/or presence of a diagnosis of hypercholesterolemia in a patient treated with statin medication. The phenotypes were described as unknown in all cases in which the diagnosis was either unclear or the data were missing. We tested in the 200 Italians families for evidence of linkage of the PSMD9 SNPs with hypercholesterolemia. The non-parametric linkage analysis was performed for the qualitative phenotype by using the Merlin software; the Lod score and correspondent P-value were calculated. For the significant linkage score, 1000 replicates were performed to calculate the empirical P-value.
resultsThe PSMD9 gene SNPs studied show linkage to hypercholesterolemia. The results are not due to random chance.
conclusionsPSMD9 should be tested in all populations reporting linkage to hypercholesterolemia within the chromosome 12q24 locus. The impact of this gene on hypercholesterolemia and contribution to cardio- and cerebrovascular events may be high.
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