Evidence map›Paper›PMID 27924526›Full record

ArticleMolecular neurobiology2017

The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.

Gemma Tell-Marti, Joan Anton Puig-Butille, Pol Gimenez-Xavier, Ariadna Segu-Roig, Miriam Potrony, Celia Badenas, Victoria Alvarez, José M Millán, María José Trujillo-Tiebas, María A Ramos-Arroyo and 2 more

Abstract read
PubMed Publisher
In one paragraph

Article in Molecular neurobiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 88% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 6 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 6 institutions in 1 country.

Gemma Tell-MartiDermatology Department, Melanoma Unit, Hospital Clinic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain.
Joan Anton Puig-ButilleCentro de Investigación Biomédica en Red Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain.
Pol Gimenez-XavierDermatology Department, Melanoma Unit, Hospital Clinic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain.
Ariadna Segu-RoigDermatology Department, Melanoma Unit, Hospital Clinic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain.
Miriam PotronyDermatology Department, Melanoma Unit, Hospital Clinic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain.
Celia BadenasCentro de Investigación Biomédica en Red Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain.
Victoria AlvarezLaboratorio de Genética. AGC Laboratorio de Medicina, Hospital Universitario Central de Asturias, Oviedo, Spain.
José M MillánCentro de Investigación Biomédica en Red Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain.
María José Trujillo-TiebasCentro de Investigación Biomédica en Red Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain.
María A Ramos-ArroyoMedical Genetics Department, Complejo Hospitalario de Navarra, IdiSNA, Navarra Institute for Health Research, Irunlarrea 4, 31008, Pamplona, Navarra, Spain.
Montserrat MilàCentro de Investigación Biomédica en Red Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain.
Susana PuigDermatology Department, Melanoma Unit, Hospital Clinic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain. susipuig@gmail.com.
Centre for Biomedical Network Research on Rare Diseases · ESConsorci Institut D'Investigacions Biomediques August Pi I Sunyer · ESInstituto de Salud Carlos III · ESCentro de Investigación Biomédica en Red · ESComplejo Hospitalario de Navarra · ESHospital Universitario Central de Asturias · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The expansion of CAG repeats (≥36 CAG) in the HTT gene is the only known genetic cause of Huntington's disease (HD) and the main determinant of the course of the disease. The length of the expanded CAG repeats correlates inversely with the age of onset (AOO) but does not completely determine it. We investigated the role of the melanocortin 1 receptor (MC1R) gene as a modifier factor of AOO in 600 HD patients from Spain. We sequenced the entire region of the MC1R gene and analyzed all the nonsynonymous MC1R genetic variants with a minor allele frequency of at least 0.01 in HD patients. The variability in AOO attributable to the CAG repeats and MC1R polymorphisms was evaluated using a multiple linear regression model. We found that the loss-of-function p. R151C MC1R polymorphism has a significant influence on the AOO (P = 0.004; Bonferroni-corrected P = 0.032) which explains 1.42% of the variance in AOO that cannot be accounted for by the expanded CAG repeat. Our results suggest that the MC1R gene could modify the AOO in Spanish HD patients and encourage the evaluation of loss-of-function MC1R polymorphisms in other HD populations with a higher frequency of these MC1R polymorphisms.

Indexed as

Age of OnsetFemaleHumansHuntington DiseaseMaleMiddle AgedPolymorphism, Single NucleotideReceptor, Melanocortin, Type 1Receptor, Melanocortin, Type 1Age of onsetHuntington’s diseaseMelanocortin 1 receptor (MC1R) geneNeurodegenerative diseasesp. R151C

Identifiers

PMID27924526
OpenAlexW2560801099

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.