TY - JOUR
T1 - PSMD9 is linked to T2D age of onset, years of isolated and combined insulin therapy, irregular menses, and hot flashes
AU - Del Bosque-Plata, L.
AU - Amin, M.
AU - Gragnoli, C.
AU - Gragnoli, Claudia
N1 - Funding Information:
We thank the families who participated in the study, and we thank Bios Biotech Multi-Diagnostic Health Center, Rome, Italy, for data access and for financial, medical, and laboratory staff support. This study was supported by Penn State College of Medicine.
Publisher Copyright:
© 2022 Verduci Editore s.r.l. All rights reserved.
PY - 2022
Y1 - 2022
N2 - – OBJECTIVE: PSMD9 is a ubiquitous protein present at high concentrations in eukaryotic cells. It contributes to the degradation of intracellular proteins in the immune system. It is part of the 26S proteasome complex, and its regulatory role on proteasomal activity as well as its effect on genetic transcription have been recognized. PSMD9 has been related with insulin secretion, and it regulates the ligand-dependent retinoid-target genes transcription. Importantly, PSMD9 rs74421874 (IVS3+nt460-G>A), rs3825172 (IVS3+nt437-C>T), and rs14259 SNPs have been previously linked to type 2 diabetes (T2D), maturity-onset diabetes of the young 3 (MODY3), overweight status and waist circumference, hypertension, hypercholesterolemia, cardiovascular disease, microvascular disease (retinopathy, neuropathy, and nephropathy), carpal tunnel syndrome, depression, anxiety, insomnia, and sleep hours. MATERIALS AND METHODS: In this study, we analyzed the above-mentioned PSMD9 rs74421874 (IVS3+nt460-G>A), rs3825172 (IVS3+nt437-C>T), and rs14259 SNPs for linkage to the T2D quantitative traits of T2D age of onset, duration in years of combined oral hypoglycemic agents and insulin therapy and only insulin therapy, stress, and the birth weight of the subjects’ children; and with the T2D qualitative phenotypes of irregular menses, couple infertility, and menopausal hot flashes. RESULTS: We found that PSMD9 was linked to irregular menses of reproductive age, menopausal hot flashes, T2D age of onset, years of combined oral and insulin therapy and of insulin therapy; we also found that it shows only a tendency towards linkage to stress, birthweight, and couple infertility. CONCLUSIONS: This is the first time that this gene is implicated with irregular menses of reproductive age (a trait of polycystic ovarian syndrome), hot flashes, T2D onset age, and duration years of combined oral and insulin therapy and only insulin therapies.
AB - – OBJECTIVE: PSMD9 is a ubiquitous protein present at high concentrations in eukaryotic cells. It contributes to the degradation of intracellular proteins in the immune system. It is part of the 26S proteasome complex, and its regulatory role on proteasomal activity as well as its effect on genetic transcription have been recognized. PSMD9 has been related with insulin secretion, and it regulates the ligand-dependent retinoid-target genes transcription. Importantly, PSMD9 rs74421874 (IVS3+nt460-G>A), rs3825172 (IVS3+nt437-C>T), and rs14259 SNPs have been previously linked to type 2 diabetes (T2D), maturity-onset diabetes of the young 3 (MODY3), overweight status and waist circumference, hypertension, hypercholesterolemia, cardiovascular disease, microvascular disease (retinopathy, neuropathy, and nephropathy), carpal tunnel syndrome, depression, anxiety, insomnia, and sleep hours. MATERIALS AND METHODS: In this study, we analyzed the above-mentioned PSMD9 rs74421874 (IVS3+nt460-G>A), rs3825172 (IVS3+nt437-C>T), and rs14259 SNPs for linkage to the T2D quantitative traits of T2D age of onset, duration in years of combined oral hypoglycemic agents and insulin therapy and only insulin therapy, stress, and the birth weight of the subjects’ children; and with the T2D qualitative phenotypes of irregular menses, couple infertility, and menopausal hot flashes. RESULTS: We found that PSMD9 was linked to irregular menses of reproductive age, menopausal hot flashes, T2D age of onset, years of combined oral and insulin therapy and of insulin therapy; we also found that it shows only a tendency towards linkage to stress, birthweight, and couple infertility. CONCLUSIONS: This is the first time that this gene is implicated with irregular menses of reproductive age (a trait of polycystic ovarian syndrome), hot flashes, T2D onset age, and duration years of combined oral and insulin therapy and only insulin therapies.
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U2 - 10.26355/eurrev_202212_30559
DO - 10.26355/eurrev_202212_30559
M3 - Article
C2 - 36524506
AN - SCOPUS:85144033075
VL - 26
SP - 8873
EP - 8878
JO - European Review for Medical and Pharmacological Sciences
JF - European Review for Medical and Pharmacological Sciences
SN - 1128-3602
IS - 23
ER -