|
rs28932472
|
|
Obesity
|
|
0.030 |
GeneticVariation
|
BEFREE |
These results show that a) the R236G substitution of POMC gene, although not a major cause of obesity among Italian obese children and adolescents, is associated with early onset obesity, and that b) inherited alterations of the melanocortin signaling pathway, independently of the degree of obesity, do not preclude the possibility to lose weight in mutated individuals following a hypocaloric diet.
|
16682835 |
2006 |
|
rs28932472
|
|
Obesity
|
|
0.030 |
GeneticVariation
|
BEFREE |
R236G is a mutation which disrupts such a normal processing event resulting in an overall weight gain and early onset obesity.
|
26530524 |
2016 |
|
rs28932472
|
|
Obesity
|
|
0.030 |
GeneticVariation
|
BEFREE |
These results suggest that the R236G mutation may confer an inherited susceptibility to obesity through the production of an aberrant fusion protein that has the capacity to interfere with central melanocortin signalling.
|
12165561 |
2002 |
|
rs767700712
|
|
Obesity
|
|
0.020 |
GeneticVariation
|
BEFREE |
Two novel heterozygous missense mutations in POMC (C28F and L37F) were identified in unrelated probands with early-onset obesity and their overweight or obese family members.
|
18697863 |
2008 |
|
rs767700712
|
|
Obesity
|
|
0.020 |
GeneticVariation
|
BEFREE |
Highlighting the significance of this gap in knowledge, a single POMC cysteine-to-phenylalanine mutation at position 28 (POMC-C28F) is defective for ER processing and causes early onset obesity in a dominant-negative manner in humans through an unclear mechanism.
|
29457782 |
2018 |
|
rs45463492
|
|
Aarskog syndrome
|
|
0.020 |
GeneticVariation
|
BEFREE |
We describe a girl born to consanguineous Pakistani parents with clinical and biochemical features of FGD who is homozygous for the R146H mutation of the adrenocorticotropic hormone (ACTH) receptor gene.
|
9550364 |
1998 |
|
rs45463492
|
|
Aarskog syndrome
|
|
0.020 |
GeneticVariation
|
BEFREE |
This is the first report of FGD associated with a compound heterozygous mutation of C21Y and R146H in the MC2R gene.
|
17128565 |
2006 |
|
rs201408477
|
|
Obesity
|
|
0.020 |
GeneticVariation
|
BEFREE |
Furthermore, both mutations PCSK1-p.Asn180Ser and POMC-p.Phe144Leu, which had previously been reported to be associated with severe obesity, were also identified in this study, but did not co-segregate with obesity.
|
24890885 |
2015 |
|
rs201408477
|
|
Obesity
|
|
0.020 |
GeneticVariation
|
BEFREE |
The novel heterozygous mutation Phe144Leu leading to the absence of melanocortin signaling was associated with early-onset obesity suggesting its pathogenic role.
|
18091355 |
2008 |
|
rs1042571
|
|
Obesity
|
|
0.020 |
GeneticVariation
|
BEFREE |
The common variant rs1042571 in the 3'UTR was significantly associated with BMI in EAs (Overweight: P(adj) = 0.005; Obese: P(adj) = 0.018; Overweight+Obese: P(adj) = 0.002) but not in AAs.
|
23028917 |
2012 |
|
rs1042571
|
|
Obesity
|
|
0.020 |
GeneticVariation
|
BEFREE |
Analysis of MC4R rs17782313, POMC rs1042571, APOE-Hha1 and AGRP rs3412352 genetic variants with susceptibility to obesity risk in North Indians.
|
26226973 |
2016 |
|
rs934429785
|
|
Deficiency of reductase
|
|
0.010 |
GeneticVariation
|
BEFREE |
The patient with 5alpha-reductase deficiency with a homozygous p.R246Q mutation had a low basal dihydrotestosterone level.
|
18717241 |
2008 |
|
rs917202708
|
|
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
|
|
0.010 |
GeneticVariation
|
BEFREE |
K36E attenuated α-MSH induced cAMP pathways, contributing to hypopigmentation.
|
28114924 |
2017 |
|
rs917202708
|
|
Hypopigmentation disorder
|
|
0.010 |
GeneticVariation
|
BEFREE |
K36E attenuated α-MSH induced cAMP pathways, contributing to hypopigmentation.
|
28114924 |
2017 |
|
rs913377707
|
|
Deficiency of reductase
|
|
0.010 |
GeneticVariation
|
BEFREE |
The patient with 5alpha-reductase deficiency with a homozygous p.R246Q mutation had a low basal dihydrotestosterone level.
|
18717241 |
2008 |
|
rs80326661
|
|
Anorexia Nervosa
|
|
0.010 |
GeneticVariation
|
BEFREE |
This proband inherited another missense mutation from her father (Glu-188-Gly). c) A missense mutation (G-7016-A; Asp-80-Asn) was observed in a single patient with AN who also harboured the 9bp insertion on a paternally derived haplotype. d) The allelic co-occurence of two silent mutations (C-6982-T and C-7285-T) was detected in two obese subjects. e) Two further silent mutations (C-3832-T; C-7111-G) were detected in an underweight and an obese subject, respectively.
|
9768693 |
1998 |
|
rs80326661
|
|
Obesity
|
|
0.010 |
GeneticVariation
|
BEFREE |
This proband inherited another missense mutation from her father (Glu-188-Gly). c) A missense mutation (G-7016-A; Asp-80-Asn) was observed in a single patient with AN who also harboured the 9bp insertion on a paternally derived haplotype. d) The allelic co-occurence of two silent mutations (C-6982-T and C-7285-T) was detected in two obese subjects. e) Two further silent mutations (C-3832-T; C-7111-G) were detected in an underweight and an obese subject, respectively.
|
9768693 |
1998 |
|
rs776588032
|
|
Obesity
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two novel heterozygous missense mutations in POMC (C28F and L37F) were identified in unrelated probands with early-onset obesity and their overweight or obese family members.
|
18697863 |
2008 |
|
rs775159616
|
|
Aarskog syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
The D103N-mutated MC2-R had an impaired cAMP response to physiological doses of ACTH, but the maximal response at very high concentrations of ACTH was similar to that obtained for the wild-type MC2-R. All these results demonstrated clear relationships based on functional studies between MC2-R homozygous mutations and FGD phenotype.
|
12110946 |
2002 |
|
rs772977552
|
|
Obesity
|
|
0.010 |
GeneticVariation
|
BEFREE |
(1) A novel MC4R non-synonymous mutation (S136F) was detected in a 2.3 year old girl with extreme obesity (BMI 33.2 kg/m(2), >99th centile); (2) a previously described non-synonymous mutation (V253I) was identified in an obese mother (BMI 28.1 kg/m(2)) who did not transmit this mutation to her extremely obese son; (3) two known polymorphisms (V103I and I251L) were also identified; and (4) one obese mother was carrier of a silent variation (c.594C>T; I198).
|
17286227 |
2007 |
|
rs768768839
|
|
Hypertrichosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis.
|
15126570 |
2004 |
|
rs768768839
|
|
21-hydroxylase deficiency
|
|
0.010 |
GeneticVariation
|
BEFREE |
The diagnosis of non-classical (NC) 21-hydroxylase deficiency (21-OH-D) was substantiated by the finding of increased baseline and adrenocorticotropic hormone (ACTH)-stimulated 17-hydroxy-progesterone levels and was supported by molecular analyses of the CYP21A2 gene, which revealed V281L homozygosis in patient 1 and V281L/P30L compound heterozygosis in patient 2.
|
17992539 |
2008 |
|
rs768768839
|
|
Precocious pubarche
|
|
0.010 |
GeneticVariation
|
BEFREE |
By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis.
|
15126570 |
2004 |
|
rs768768839
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
|
0.010 |
GeneticVariation
|
BEFREE |
The diagnosis of non-classical (NC) 21-hydroxylase deficiency (21-OH-D) was substantiated by the finding of increased baseline and adrenocorticotropic hormone (ACTH)-stimulated 17-hydroxy-progesterone levels and was supported by molecular analyses of the CYP21A2 gene, which revealed V281L homozygosis in patient 1 and V281L/P30L compound heterozygosis in patient 2.
|
17992539 |
2008 |
|
rs768768839
|
|
Chronic active hepatitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis.
|
15126570 |
2004 |