RGD Reference Report - Variants in HSD11B1 gene modulate susceptibility to diabetes kidney disease and to insulin resistance in type 1 diabetes. - Rat Genome Database

RGD Reference Report - Variants in HSD11B1 gene modulate susceptibility to diabetes kidney disease and to insulin resistance in type 1 diabetes. - Rat Genome Database

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Variants in HSD11B1 gene modulate susceptibility to diabetes kidney disease and to insulin resistance in type 1 diabetes.
Authors:	Mori, Rosana Cristina Santos-Bezerra, Daniele Pereira Pelaes, Tatiana Souza Admoni, Sharon Nina Perez, Ricardo Vessoni Monteiro, Maria Beatriz Machado, Cleide Guimarães Queiroz, Marcia Silva Machado, Ubiratan Fabres Correa-Giannella, Maria Lúcia
Citation:	Mori RC, etal., Diabetes Metab Res Rev. 2021 Jan;37(1):e3352. doi: 10.1002/dmrr.3352. Epub 2020 Jun 21.
RGD ID:	329902062
Pubmed:	PMID:32453474 (View Abstract at PubMed)
DOI:	DOI:10.1002/dmrr.3352 (Journal Full-text)
BACKGROUND AND AIM: 11β-Hydroxysteroid dehydrogenase 1 has been implicated in insulin resistance (IR) in the setting of metabolic disorders, and single nucleotide polymorphisms (SNPs) in its encoding gene (HSD11B1) have been associated with type 2 diabetes and metabolic syndrome. In type 1 diabetes (T1D), IR has been related to the development of chronic complications. We investigated the association of HSD11B1 SNPs with microvascular complications and with IR in a Brazilian cohort of T1D individuals. MATERIALS AND METHODS: Five SNPs were genotyped in 466 T1D individuals (57% women; median of 37 years old, diabetes duration of 25 years and HbA1c of 8.4%). RESULTS: The minor allele T of rs11799643 was nominally associated with diabetic retinopathy (OR = 0.52; confidence interval [CI] 95% = 0.28-0.96; P = .036). The minor allele C of rs17389016 was nominally associated with overt diabetic kidney disease (DKD) (OR = 1.90; CI 95% = 1.07-3.37; P = .028). A follow-up study revealed that 29% of the individuals lost >=5 mL min-1 × 1.73 m2 per year of the estimated glomerular filtration rate (eGFR). In these individuals (eGFR decliners), C allele of rs17389016 was more frequent than in non-decliners (OR = 2.10; CI 95% = 1.14-3.89; P = .018). Finally, minor allele T of rs846906 associated with higher prevalence of arterial hypertension, higher body mass index and waist circumference, thus conferring risk to a lower estimated glucose disposal rate, a surrogate marker of insulin sensitivity (OR = 1.23; CI 95% = 1.06-1.42; P = .004). CONCLUSION: SNPs in the HSD11B1 gene may confer susceptibility to DKD and to IR in T1D individuals.

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Object Symbol	Species	Term	Qualifier	Evidence	With	Notes	Source	Original Reference(s)
HSD11B1	Human	Diabetic Nephropathies	susceptibility	IAGP		DNA:SNO:intron: (rs17389016, rs11799643) (human)	RGD
Hsd11b1	Rat	Diabetic Nephropathies	susceptibility	ISO	RGD:737091	DNA:SNO:intron: (rs17389016, rs11799643) (human)	RGD
Hsd11b1	Mouse	Diabetic Nephropathies	susceptibility	ISO	RGD:737091	DNA:SNO:intron: (rs17389016, rs11799643) (human)	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Notes	Source	Original Reference(s)
HSD11B1	Human	Increased body mass index	susceptibility	IAGP		DNA:SNP:intron: (rs846906) (human)	RGD
HSD11B1	Human	Nephropathy	susceptibility	IAGP		DNA:SNO:intron: (rs17389016, rs11799643) (human)	RGD
HSD11B1	Human	Pulmonary arterial hypertension	susceptibility	IAGP		DNA:SNP:intron: (rs846906) (human)	RGD

Genes (Rattus norvegicus)


Hsd11b1 (hydroxysteroid 11-beta dehydrogenase 1)

Genes (Mus musculus)


Hsd11b1 (hydroxysteroid 11-beta dehydrogenase 1)

Genes (Homo sapiens)


HSD11B1 (hydroxysteroid 11-beta dehydrogenase 1)