Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
0.010 Biomarker disease BEFREE MFN2-related MSL is a novel mitochondrial lipodystrophic syndrome involving both lipomatous masses and lipoatrophy. 30158064 2019
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.010 AlteredExpression disease BEFREE Renal mineralocorticoid receptor expression is reduced in lipoatrophy. 30761257 2019
Entrez Id: 10979
Gene Symbol: FERMT2
FERMT2
0.010 GeneticVariation disease BEFREE Lipoatrophy and metabolic disturbance in mice with adipose-specific deletion of kindlin-2. 31292295 2019
Entrez Id: 3552
Gene Symbol: IL1A
IL1A
0.010 Biomarker disease BEFREE IL-1α might play an important role in mediating lipoatrophy by regulation of ADSCs. 29288588 2018
Entrez Id: 3565
Gene Symbol: IL4
IL4
0.010 AlteredExpression disease BEFREE In order to estimate the correlation of IL-4 and IL-10 and the presence of lipodystrophy, ACBM showed that correlation of IL-4 levels in patients with lipodystrophy remains statistically significant (p=0.004) in all types of lipodystrophy: lipoatrophy, lipohypertrophy and mix-fat-redistribution (p=0.027; p=0.009; p=0.017, respectively) after adjustment for age, BMI. 28189545 2017
Entrez Id: 3586
Gene Symbol: IL10
IL10
0.010 AlteredExpression disease BEFREE In order to estimate the correlation of IL-4 and IL-10 and the presence of lipodystrophy, ACBM showed that correlation of IL-4 levels in patients with lipodystrophy remains statistically significant (p=0.004) in all types of lipodystrophy: lipoatrophy, lipohypertrophy and mix-fat-redistribution (p=0.027; p=0.009; p=0.017, respectively) after adjustment for age, BMI. 28189545 2017
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
0.010 GeneticVariation disease BEFREE The apparent partial lipodystrophy in Reep1 null mice, although less severe, is reminiscent of the lipoatrophy phenotype observed in the most common form of autosomal recessive lipodystrophy, Berardinelli-Seip congenital lipodystrophy. 27638887 2016
Entrez Id: 9229
Gene Symbol: DLGAP1
DLGAP1
0.010 GeneticVariation disease BEFREE This replication study revealed a significant association of LA with an SNP (rs12964965) in the gene encoding the Disks Large Homolog-Associated Protein 1 (DLGAP1), even after the correction for five multiple comparisons. 25950743 2015
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
0.010 Biomarker disease BEFREE We conducted a 24-week open label trial of recombinant IGF-I in ten adults with HIV associated lipoatrophy. 23867790 2013
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
0.010 Biomarker disease BEFREE This was also the case for IL-7R expressing CD8⁺ T cells (CD127⁺) for lipoatrophy β = 12.8, P = 0.003, and for central fat accumulation β = 9.45, P = 0.016. 24129368 2013
Entrez Id: 952
Gene Symbol: CD38
CD38
0.010 AlteredExpression disease BEFREE In multivariable analyses, CD8 T-cell activation (CD38) was associated with lipoatrophy and central fat accumulation (respectively, β = 5.63, P = 0.005, and β = 4.19, P = 0.020). 24129368 2013
Entrez Id: 355
Gene Symbol: FAS
FAS
0.010 GeneticVariation disease BEFREE Polymorphisms in Fas gene is associated with HIV-related lipoatrophy in Thai patients. 22775001 2013
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
0.010 GeneticVariation disease BEFREE Additionally, patients who were AA homozygous for ESR2 rs3020450 presented an increased risk for developing lipoatrophy (prevalence ratio 1.37, 95% confidence interval 1.09-1.73, P = 0.007). 22011627 2012
Entrez Id: 3630
Gene Symbol: INS
INS
0.010 GeneticVariation disease BEFREE Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene. 21910811 2012
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
0.010 GeneticVariation disease BEFREE Moreover, the ESR1 gene (rs2813544) presented significant sex-specific associations with anthropometric variables, and the ESR2 gene (rs3020450) was associated with an increased risk of developing lipoatrophy. 22011627 2012
Entrez Id: 1734
Gene Symbol: DIO2
DIO2
0.010 AlteredExpression disease BEFREE Thigh SAT from subjects with FPLD2 has lower expression of MCT8 and higher DIO2 expression and activity than abdominal SAT, suggesting that changes in local TH metabolism may occur in areas with lipoatrophy. 20373986 2010
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
0.010 AlteredExpression disease BEFREE Thigh SAT from subjects with FPLD2 has lower expression of MCT8 and higher DIO2 expression and activity than abdominal SAT, suggesting that changes in local TH metabolism may occur in areas with lipoatrophy. 20373986 2010
Entrez Id: 3077
Gene Symbol: HFE
HFE
0.010 GeneticVariation disease BEFREE Hemochromatosis gene polymorphisms, mitochondrial haplogroups, and peripheral lipoatrophy during antiretroviral therapy. 18419350 2008
Entrez Id: 966
Gene Symbol: CD59
CD59
0.010 Biomarker disease BEFREE Subjects who developed lipoatrophy (n=10) had elevated fasting triglycerides [3.16 (sd 2.79) mmol/liter] and reduced insulin sensitivity as measured by frequently sampled iv glucose tolerance test [1.89 (sd 1.27)x10(-4) min(-1)/microU.ml] after 12 months, whereas those without lipoatrophy (n=21) did not show any metabolic complications [triglycerides 1.32 (sd 0.58) mmol/liter, P=0.01 vs. lipoatrophy; insulin sensitivity 3.52 (sd 1.91)x10(-4) min(-1)/microU.ml, P=0.01 vs. lipoatrophy]. 18089690 2008
Entrez Id: 3606
Gene Symbol: IL18
IL18
0.010 Biomarker disease BEFREE In addition, lipin expression levels were inversely correlated with adipose tissue expression of inflammatory cytokines interleukin (IL)-6, IL-8 and IL-18, which typically increase in HIV-associated lipoatrophy. 16847472 2007
Entrez Id: 3576
Gene Symbol: CXCL8
CXCL8
0.010 Biomarker disease BEFREE In addition, lipin expression levels were inversely correlated with adipose tissue expression of inflammatory cytokines interleukin (IL)-6, IL-8 and IL-18, which typically increase in HIV-associated lipoatrophy. 16847472 2007
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.010 GeneticVariation disease BEFREE No association between TNF -238G-->A and lipoatrophy was observed. 15809899 2005
Entrez Id: 348
Gene Symbol: APOE
APOE
0.010 GeneticVariation disease BEFREE We evaluated the contribution of APOC3 -482C-->T, -455T-->C, and 3238C-->G; epsilon 2 and epsilon 4 alleles of APOE; and TNF -238G-->A to dyslipidemia and lipoatrophy by longitudinally modeling >2600 lipid determinations and 2328 lipoatrophy assessments in 329 ART-treated patients during a median follow-up period of 3.4 years. 15809899 2005
Entrez Id: 84619
Gene Symbol: ZGPAT
ZGPAT
0.010 Biomarker disease BEFREE The virtually fatless A-ZIP/F-1 mouse is profoundly insulin resistant, diabetic, and a good model for humans with severe generalized lipoatrophy. 12086940 2002
Entrez Id: 6720
Gene Symbol: SREBF1
SREBF1
0.010 Biomarker disease BEFREE Since the differentiation factor SREBP1 is rapidly targeted by protease inhibitors in vitro, our results suggest that SREBP1c could be an important mediator of peripheral lipoatrophy in this setting, leading to metabolic alterations such as insulin resistance. 11937183 2002