|
rs73637412
|
|
|
0.050 |
GeneticVariation |
BEFREE |
GPR101 duplication has a causative role in XLAG, while GPR101 variants, especially c.924G>C (E308D), located at ICL3, are attributed to acromegaly.
|
30711029 |
2019 |
|
rs73637412
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Patients with sporadic of familial acromegaly did not have an increased prevalence of the c.924G > C (p.E308D) GPR101 variant compared to public databases.In conclusion, XLAG can result from germline or somatic duplication of GPR101.
|
27245663 |
2016 |
|
rs73637412
|
|
|
0.050 |
GeneticVariation |
BEFREE |
This multicentric study aimed to investigate the prevalence of the G protein-coupled receptor 101 (GPR101) p.E308D variant and aryl hydrocarbon receptor interacting protein (AIP) gene mutations in a representative cohort of Italian patients with acromegaly.
|
26815903 |
2016 |
|
rs73637412
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Three of the six patients with the GPR101 p.(E308D) mutation had adult-onset acromegaly, two had adrenocorticotropin-secreting adenomas, and one had a nonfunctioning macroadenoma.
|
26792934 |
2016 |
|
rs73637412
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We identified a recurrent GPR101 mutation (p.E308D) in 11 of 248 patients with acromegaly, with the mutation found mostly in tumors.
|
25470569 |
2014 |
|
rs2066853
|
|
|
0.020 |
GeneticVariation |
BEFREE |
GSTP1 gene methylation and AHR rs2066853 variant predict resistance to first generation somatostatin analogs in patients with acromegaly.
|
30488289 |
2019 |
|
rs1267969615
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The aim of the study was to investigate the association between ACE (I/D) and AGT (M235T) gene polymorphisms and cardiovascular and metabolic disorders in the acromegaly.
|
28712073 |
2017 |
|
rs699
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The aim of the study was to investigate the association between ACE (I/D) and AGT (M235T) gene polymorphisms and cardiovascular and metabolic disorders in the acromegaly.
|
28712073 |
2017 |
|
rs2066853
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Increased frequency of the rs2066853 variant of aryl hydrocarbon receptor gene in patients with acromegaly.
|
24521362 |
2014 |
|
rs1267969615
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Angiotensin converting enzyme I/D, angiotensinogen M235T and AT1-R A/C1166 gene polymorphisms in patients with acromegaly.
|
20361261 |
2011 |
|
rs699
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Angiotensin converting enzyme I/D, angiotensinogen M235T and AT1-R A/C1166 gene polymorphisms in patients with acromegaly.
|
20361261 |
2011 |
|
rs2854744
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study is one of the first to show that the IGFBP3 polymorphism may have an influence on serum levels and that the C allele of rs2854744 is associated with a reduced risk of acromegaly.
|
30290787 |
2018 |
|
rs9930506
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Aim of this study was to investigate the allele frequencies of two FTO gene polymorphisms: rs9939609 and rs9930506 in patients with acromegaly and to examine the association of FTO gene polymorphisms with BMI and selected metabolic parameters.
|
28913579 |
2018 |
|
rs763751076
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of the study was to investigate the association between ACE (I/D) and AGT (M235T) gene polymorphisms and cardiovascular and metabolic disorders in the acromegaly.
|
28712073 |
2017 |
|
rs113488022
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Despite the relation of BRAF V600E and NRAS codon 61 mutations with aggresive histopathologic features, their impact on tumor prognosis remains to be defined in acromegaly in further studies.
|
26575115 |
2016 |
|
rs121913377
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Despite the relation of BRAF V600E and NRAS codon 61 mutations with aggresive histopathologic features, their impact on tumor prognosis remains to be defined in acromegaly in further studies.
|
26575115 |
2016 |
|
rs5498
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ICAM E469K may not be a risk factor for the acromegaly in Turkish population but may be associated with hypertension, higher FPG and lower HDL-C in acromegalic patients.
|
26004608 |
2015 |
|
rs104894195
|
|
|
0.010 |
GeneticVariation |
BEFREE |
After genetic and clinical screening of the family, two R304* carriers were diagnosed with acromegaly.
|
24423289 |
2014 |
|
rs1217691063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated the influence of MTHFR C677T polymorphism, folate status and other lifestyle, nutritional and disease-specific variables on CRT risk in acromegaly.
|
23807201 |
2014 |
|
rs1290398674
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recent studies have identified L206R mutations in the alpha catalytic subunit of protein kinase A (PRKACA) in cortisol-producing adrenocortical adenomas and amplification of the beta catalytic subunit of protein kinase A PRKACB in acromegaly associated with Carney complex.
|
25225481 |
2014 |
|
rs775888932
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a recurrent GPR101 mutation (p.E308D) in 11 of 248 patients with acromegaly, with the mutation found mostly in tumors.
|
25470569 |
2014 |
|
rs1052133
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Is there any association between the Ser326Cys polymorphism of the 8-oxoguanine glycosylase 1 (OGG1) gene and risk of colon polyp and abnormal glucose tolerance in acromegaly patients?
|
23368532 |
2013 |
|
rs142833529
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The I119T substitution occurred in a female patient with acromegaly. p27(I119T) shows an abnormal migration pattern by SDS-PAGE.
|
22291433 |
2012 |
|
rs267606541
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We present the case of a patient who was diagnosed with acromegaly due to the AIP mutation c.241C>T (p.R81X) at the age of 34 years, and treated by transsphenoidal surgery.
|
22527616 |
2012 |
|
rs760330563
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The I119T substitution occurred in a female patient with acromegaly. p27(I119T) shows an abnormal migration pattern by SDS-PAGE.
|
22291433 |
2012 |