Major locus for red hair color linked to MNS blood groups on chromosome 4

2008 ◽  
Vol 32 (2) ◽  
pp. 125-128 ◽  
Author(s):  
Hans Eiberg ◽  
Jan Mohr
1952 ◽  
Vol 17 (1) ◽  
pp. 175-182
Author(s):  
MOGENS HAUGE ◽  
HANS FR. HELWEG-LARSEN
Keyword(s):  
Red Hair ◽  

2008 ◽  
Vol 215 (2) ◽  
pp. 344-355 ◽  
Author(s):  
Donald W. Roberts ◽  
Richard A. Newton ◽  
J. Helen Leonard ◽  
Richard A. Sturm
Keyword(s):  

2009 ◽  
Vol 140 (7) ◽  
pp. 896-905 ◽  
Author(s):  
Catherine J. Binkley ◽  
Abbie Beacham ◽  
William Neace ◽  
Ronald G. Gregg ◽  
Edwin B. Liem ◽  
...  

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Yingjin Qiao ◽  
Anna-Lena Berg ◽  
Pei Wang ◽  
Yan Ge ◽  
Songxia Quan ◽  
...  

Abstract Melanocortin therapy by using adrenocorticotropic hormone (ACTH) or non-steroidogenic melanocortin peptides attenuates proteinuria and glomerular injury in experimental glomerular diseases and induces remission of nephrotic syndrome in patients with diverse glomerulopathies, even those resistant to steroids. The underlying mechanism remains elusive, but the role of melanocortin 1 receptor (MC1R) has been implicated and was examined here. Four patients with congenital red hair color and nephrotic syndrome caused by idiopathic membranous nephropathy or focal segmental glomerulosclerosis were confirmed by gene sequencing to bear dominant-negative MC1R mutations. Despite prior corticosteroid resistance, all patients responded to ACTH monotherapy and ultimately achieved clinical remission, inferring a steroidogenic-independent and MC1R-dispensable anti-proteinuric effect of melanocortin signaling. In confirmatory animal studies, the protective effect of [Nle4, D-Phe7]-α-melanocyte stimulating hormone (NDP-MSH), a potent non-steroidogenic pan-melanocortin receptor agonist, on the lipopolysaccharide elicited podocytopathy was completely preserved in MC1R-null mice, marked by reduced albuminuria and diminished histologic signs of podocyte injury. Moreover, in complementary in vitro studies, NDP-MSH attenuated the lipopolysaccharide elicited apoptosis, hypermotility and impairment of filtration barrier function equally in primary podocytes derived from MC1R-null and wild-type mice. Collectively, our findings suggest that melanocortin therapy confers a proteinuria reducing and podoprotective effect in proteinuric glomerulopathies via MC1R-independent mechanisms.


2013 ◽  
Vol 5 ◽  
pp. BIC.S12754 ◽  
Author(s):  
Per A. Andresen ◽  
Dag A. Nymoen ◽  
Kristina Kjærheim ◽  
Torbjørn Leivestad ◽  
Per Helsing

The highly polymorphic melanocortin 1 receptor ( MC1R) gene plays a crucial role in pigmentation. Variants of the gene have been implicated in risk of cutaneous squamous cell carcinoma (SCC) in the general population. In renal transplant (RT) recipients these cancers are more aggressive and very common. To evaluate the risk of SCC relative to MC1R and the pigmentation-associated genes ASIP, TYR, and TYRP1, a group of 217 RT recipients with and without SCC was genotyped. Associations with SCC risk were indicated in carriers of the red hair color associated MC1R variant p.Arg151Cys (OR= 1.99; 1.05–-3.75), and in carriers of two of any of the MC1R variants disclosed (OR = 2.36; 1.08–5.15). These associations appeared independent of traditionally protective phenotypes, also supported by the stratifications from skin phototype and hair color. A tendency towards an increased SCC risk was observed for a specific ASIP haplotype (OR = 1.87; 0.91–3.83), while no such associations were observed for the TYR and TYRP1 variants. Thus, the risk of developing SCC in RT patients is modulated by MC1R variation irrespective of phenotypes considered to be protective. Heterozygous combinations of MC1R variants appear to be more relevant in assessing SCC risk than the effects of variants individually.


2000 ◽  
Vol 39 (10) ◽  
pp. 795-800 ◽  
Author(s):  
Grace Wyshak ◽  
Rose E. Frisch
Keyword(s):  

2012 ◽  
Vol 75 (7) ◽  
pp. 740-751 ◽  
Author(s):  
JASON M. KAMILAR ◽  
CHRISTOPHER P. HEESY ◽  
BRENDA J. BRADLEY
Keyword(s):  

1981 ◽  
Vol 45 (1) ◽  
pp. 39-47 ◽  
Author(s):  
P. J. L. COOK ◽  
R. H. LINDENBAUM ◽  
R. SALONEN ◽  
A. DB LA CHAPELLE ◽  
M. G. DAKER ◽  
...  

2014 ◽  
Vol 71 (8) ◽  
pp. 757-766
Author(s):  
Jelena Nikolic ◽  
Tatjana Loncar-Turukalo ◽  
Srdjan Sladojevic ◽  
Marija Marinkovic ◽  
Zlata Janjic

Background/Aim. The lack of effective therapy for advanced stages of melanoma emphasizes the importance of preventive measures and screenings of population at risk. Identifying individuals at high risk should allow targeted screenings and follow-up involving those who would benefit most. The aim of this study was to identify most significant factors for melanoma prediction in our population and to create prognostic models for identification and differentiation of individuals at risk. Methods. This case-control study included 697 participants (341 patients and 356 controls) that underwent extensive interview and skin examination in order to check risk factors for melanoma. Pairwise univariate statistical comparison was used for the coarse selection of the most significant risk factors. These factors were fed into logistic regression (LR) and alternating decision trees (ADT) prognostic models that were assessed for their usefulness in identification of patients at risk to develop melanoma. Validation of the LR model was done by Hosmer and Lemeshow test, whereas the ADT was validated by 10-fold cross-validation. The achieved sensitivity, specificity, accuracy and AUC for both models were calculated. The melanoma risk score (MRS) based on the outcome of the LR model was presented. Results. The LR model showed that the following risk factors were associated with melanoma: sunbeds (OR = 4.018; 95% CI 1.724- 9.366 for those that sometimes used sunbeds), solar damage of the skin (OR = 8.274; 95% CI 2.661-25.730 for those with severe solar damage), hair color (OR = 3.222; 95% CI 1.984-5.231 for light brown/blond hair), the number of common naevi (over 100 naevi had OR = 3.57; 95% CI 1.427-8.931), the number of dysplastic naevi (from 1 to 10 dysplastic naevi OR was 2.672; 95% CI 1.572-4.540; for more than 10 naevi OR was 6.487; 95%; CI 1.993-21.119), Fitzpatricks phototype and the presence of congenital naevi. Red hair, phototype I and large congenital naevi were only present in melanoma patients and thus were strongly associated with melanoma. The percentage of correctly classified subjects in the LR model was 74.9%, sensitivity 71%, specificity 78.7% and AUC 0.805. For the ADT percentage of correctly classified instances was 71.9%, sensitivity 71.9%, specificity 79.4% and AUC 0.808. Conclusion. Application of different models for risk assessment and prediction of melanoma should provide efficient and standardized tool in the hands of clinicians. The presented models offer effective discrimination of individuals at high risk, transparent decision making and real-time implementation suitable for clinical practice. A continuous melanoma database growth would provide for further adjustments and enhancements in model accuracy as well as offering a possibility for successful application of more advanced data mining algorithms.


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