Analysis of variation in the melanocortin-4 receptor gene (mc4r) in golden retriever dogs

Background/Aims: To evaluate the association between allelic variants of melanocortin receptors -3 and -4 (MC3R and MC4R, respectively) and leptin receptor (LEPR) genes with body mass index (BMI) and eating behavior. Methods: We selected 344 Chilean adults (57.8% women; age 39.1 ± 6.6 years) with a wide variation in BMI (30.3 ± 6.3 kg/m2). The Three-Factor Eating Questionnaire-R18 that measures uncontrolled eating (UE), emotional eating (EE) and cognitive restraint scores was adapted, validated and assessed for association with BMI. Genotypes were determined by polymerase chain reaction followed by restriction fragment length polymorphism techniques and Taqman assays. Results: Higher EE scores were found in obese vs. non-obese in both men (p = 0.01) and women (p < 0.001). UE scores were significantly associated with BMI only in women (p = 0.002). No significant differences in eating behavior scores or BMI were found by LEPR (rs1137101, rs8179183 and rs1137100 polymorphisms) or MC3R (rs3746619 and rs3827103). Carriers of the C allele for MC4R rs17782313 showed significantly higher scores of UE compared to non-carriers (2.3 ± 0.8 vs. 2.0 ± 0.7; p = 0.02). Additionally, we also report a monogenic case of obesity carrying the pathogenic mutation 449C>T (Thr150Ile) in MC4R gene with no apparent alterations in eating behavior scores. Conclusions: UE scores were higher in C-allele carriers of MC4R-rs17782313 compared to non-carriers.

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Growth, fattening and meat guality parameters among young pigs with different snp genotypes of melanocortin – 4 receptor gene (mc4r)

The Scientific Journal Grain Crops ◽

10.31867/2523-4544/0069 ◽

2019 ◽

Vol 3 (1) ◽

pp. 127-132

Author(s):

V. I. Khalak ◽

Keyword(s):

Receptor Gene ◽

Young Pigs ◽

Melanocortin 4 Receptor ◽

Melanocortin 4 Receptor Gene

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Melanocortin-4 Receptor Gene Mutations in Obese Slovak Children

Physiological Research ◽

10.33549/physiolres.932968 ◽

2015 ◽

pp. 883-890 ◽

Cited By ~ 2

Author(s):

D. STANIKOVA ◽

M. SUROVA ◽

L. TICHA ◽

M. PETRASOVA ◽

D. VIRGOVA ◽

...

Keyword(s):

Sanger Sequencing ◽

Dna Analysis ◽

Receptor Gene ◽

Gene Mutations ◽

Loss Of Function ◽

Obese Children ◽

Mc4r Gene ◽

Melanocortin 4 Receptor ◽

Melanocortin 4 Receptor Gene ◽

Common Etiology

The most common etiology of non-syndromic monogenic obesity are mutations in gene for the Melanocortin-4 receptor (MC485) with variable prevalence in different countries (1.2-6.3 % of obese children). The aim of our study was 1) to search for MC4R mutations in obese children in Slovakia and compare their prevalence with other European countries, and 2) to describe the phenotype of the mutation carriers. DNA analysis by direct Sanger sequencing of the coding exons and intron/exon boundaries of the MC4R gene was performed in 268 unrelated Slovak children and adolescents with body mass index above the 97th percentile for age and sex and obesity onset up to 11 years (mean 4.3±2.8 years). Two different previously described heterozygous loss of function MC4R variants (i.e. p.Ser19Alafs*34, p.Ser127Leu) were identified in two obese probands, and one obese (p.Ser19Alafs*34), and one lean (p.Ser127Leu) adult family relatives. No loss of function variants were found in lean controls. The prevalence of loss-of-function MC4R variants in obese Slovak children was 0.7 %, what is one of the lowest frequencies in Europe.

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