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Objective: Diabetes mellitus (DM) is a prevalent endocrine condition found in cats. Recent research has identified a connection between a higher risk of diabetes in cats and genetic factors. This genetic susceptibility to type 2 diabetes is associated with genes that control insulin secretion and function, as well as those that impact factors like obesity. The purpose of the study was to determine the prevalence of the melanocortin 4 receptor (MC4R) gene missense mutation among cats and to investigate the relationship between body condition score (BCS) and the occurrence of diabetes in felines. Materials and Methods: Genotype analysis was done for 45 samples. The research results were obtained with the polymerase chain reaction-restriction fragment length polymorphism (PCRRFLP) method. The 1,200-bp PCR product was cut with BstOI restriction enzyme. Results: Upon analyzing the data, it was found that 37.8% (n = 17) of the subjects carried the MC4R gene mutation. Across the entire population of cats studied, the C allele associated with the mutation was most prevalent in the group of cats with DM (frequency of 0.3) and least common among the clinically healthy cats (frequency of 0.2). Conclusion: After analysis of the study results, a statistically significant difference was observed between cats with DM and clinically healthy cats in the comparison of their BCS (p < 0.05). The association of the MC4R gene polymorphism with overweight and the development of diabetes has been identified. [ABSTRACT FROM AUTHOR]

Objective: Diabetes mellitus (DM) is a prevalent endocrine condition found in cats. Recent research has identified a connection between a higher risk of diabetes in cats and genetic factors. This genetic susceptibility to type 2 diabetes is associated with genes that control insulin secretion and function, as well as those that impact factors like obesity. The purpose of the study was to determine the prevalence of the melanocortin 4 receptor (MC4R) gene missense mutation among cats and to investigate the relationship between body condition score (BCS) and the occurrence of diabetes in felines. Materials and Methods: Genotype analysis was done for 45 samples. The research results were obtained with the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The 1,200-bp PCR product was cut with BstOI restriction enzyme. Results: Upon analyzing the data, it was found that 37.8% (n = 17) of the subjects carried the MC4R gene mutation. Across the entire population of cats studied, the C allele associated with the mutation was most prevalent in the group of cats with DM (frequency of 0.3) and least common among the clinically healthy cats (frequency of 0.2). Conclusion: After analysis of the study results, a statistically significant difference was observed between cats with DM and clinically healthy cats in the comparison of their BCS (p < 0.05). The association of the MC4R gene polymorphism with overweight and the development of diabetes has been identified. [J Adv Vet Anim Res 2024; 11(3.000): 738-745]

We designed and tested the polymorphic gene MC4R in relation to live weight and weight gain of Slovak native chicken breed Oravka kept at the farm of NAFC-RIAP Nitra, which was selected for future breeding by phenotype. We monitored the weight of chickens at the age of 5, 12 and 20 weeks and calculated the weight gain for each period. The design of detection oligonucleotide primers for MC4R gene detection in DNA samples was based on the sequence available in GenBank, NCBI. Statistical analysis was done using the SAS 9.2 Stat software. We identified the GG genotype in only one hen. The number of GT heterozygotes was significantly higher in both hens (110) and roosters (16) after a long-time directive selection. The TT genotype was found in 9 hens and 5 roosters. The GG genotype was detected with a frequency of 0.71%, the GT genotype with a frequency of 89.36%, and the TT genotype with a frequency of 9.93%. The frequency of allele G was 0.454 ± 0.030; and that of allele T was 0.546 ± 0.030. At the age 12 weeks, homozygous hens were heavier (1111.33 ± 44.96 g) than heterozygous hens (1108.15 ± 13.17 g). Similarly, rooster homozygotes were on average heavier (1581.47 ± 59.11 g) than heterozygotes (1389.69 ± 34.40 g). WG 1 was significantly higher in homozygote animals TT (P < 0.01). The same pattern was also observed at the age of 20 weeks. Homozygous TT animals achieved a higher average weight, i.e., the weight of hens was 1947.25 ± 74.35 g, the weight of roosters was 2719.91 ± 87.75 g; meanwhile, for heterozygous animals, the weight of hens was 1888.78 ± 21.78 g, and the weight of roosters was 2525.99 ± 56.89 g. We concluded that in the selected Oravka "mutant" allele T is preferred. [ABSTRACT FROM AUTHOR]

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The aim of present work was to study the genetic variation of MC4R gene, associated with meat production and body weight in New Zealand White (NZW) and Californian (CA) rabbit breeds. Blood samples were collected from v. saphena of 60 animals (50 does and 10 bucks) from the experimental flocks raised in rabbit farm part of Institute of Animal Science – Kostinbrod, Bulgaria. Blood samples were stored in vacuum tubes at -20°C until DNA purification. The genetic variation was determined by means of PCR-RFLP method, using specific set of primers and restriction enzyme BcuI.In both breeds were identified all three possible genotypes (GG, AG and AA) of MC4R gene, and in both studied breeds the frequency of heterozygous genotype AG was higher than the other genotypes – 0.68 for NZW and 0.53 for CA. The mutant genotype AA was with lowest frequency in both breeds – 0.12 for NZW and 0.07 for CA. This is the first study in Bulgaria of MC4R gene. Further tests are pending to establish the influence of each genotype on the growth development of several rabbit generations from both breeds. [ABSTRACT FROM AUTHOR]

Melanocortin-4 Receptor (MC4R) expressed in hypothalamus which is part of the brain that are involved in regulation of appetite, metabolism and bodyweight. This study aimed to identify the MC4R gene diversity in the second cross generation of Belgian Blue, Wagyu, and Brahman crossbred and its relationship with the body weight and size birth. Polymerase Chain Reaction (PCR) and DNA sequencing were used to identify Single Nucleotide Polymorphism (SNP). The result of this study showed that MC4R genes was polymorphic with one SNP at 1133 C>G and included missense mutation. SNP 1133 C>G has two of allels C and G with three genotypes. Test of Hardy Weinberg equilibrium showed that the population of cattle was in equilibrium. The heterozigosity values showed that the population of cattle had a low diversity of genetics. The result of association showed that SNP 1133 C>G in MC4R Genes was not able to indicate the difference between the weight, body length, heart girth and wither's height at birth. Based on this study, it can be concluded that the polymorphism of MC4R genes can only be used to distinguish cattle genotypes but cannot be used as the selection tools for body weight and size birth. [ABSTRACT FROM AUTHOR]

Background and AimsWeight management is recommended in overweight or obese breast cancer patients, as they have an increased risk of cancer recurrence and poor prognosis. Furthermore, identifying the relationships between genetic factors and nutrition could help suggest possible individualized nutritional solutions in weight management. The objective of this pilot randomized controlled trial was to investigate the influence of two obesity-associated single nucleotide polymorphisms and the Mediterranean diet intervention on weight loss and modification of nutrient intake and metabolic parameters in overweight or obese, postmenopausal, breast cancer patients receiving adjuvant hormone therapy.MethodsSeventy-eight breast cancer patients were randomly assigned to the Mediterranean diet (MeDiet) group or control group, and seventy-one were finally analyzed. Body composition, nutrient intake, and metabolic parameters were assessed at baseline and after the 8-week intervention. Fat mass and obesity-associated (FTO) rs7185735 and melanocortin-4 receptor (MC4R) rs476828 variants were genotyped.ResultsWe found that both variants did not influence weight loss or improvement of metabolic parameters within the Mediterranean diet intervention. Intake of saturated fatty acid (SFA) and trans fat was significantly increased in C carriers compared with the TT genotype of MC4R rs476828 only in the control group (p = 0.002 for SFA; p = 0.016 for trans fat), whereas no significant difference was observed between genotypes in the MeDiet group. There were statistically significant interactions between MC4R rs476828 and dietary intervention for changes in SFA intake (p = 0.009) and trans fat intake (p = 0.049).ConclusionOur data suggest that considering the effects of genotype may be more necessary when the Mediterranean diet is not followed and that this diet may have a protective role against the effects of certain genotypes. Further studies are required to determine the potential mechanism of the observed gene-diet interaction.Clinical Trial Registration[www.ClinicalTrials.gov], identifier [NCT04045392].

Screening the MC4R gene showed one rare mutation p.Met215Ile in a Moroccan patient with morbid obesity, which leads to a change in the protein structure. The analysis of MC4R variants may be useful for future therapeutic approaches. [ABSTRACT FROM AUTHOR]

Abstract Screening the MC4R gene showed one rare mutation p.Met215Ile in a Moroccan patient with morbid obesity, which leads to a change in the protein structure. The analysis of MC4R variants may be useful for future therapeutic approaches.

The association of melanocortin receptor 4 (MC4R) gene with adiposity measures is widely studied in European populations. Only six studies have investigated the role of MC4R gene with adiposity measures among Indian populations. We have evaluated the role of MC4R (rs17782313) gene polymorphism in influencing adiposity measures in India among children and adults. The present population based cross sectional study was conducted among 303 individuals (208 children and 95 adults) of age group 10–30 years, belonging to Rajasthan. Somatometric measurements (standing height, weight, and waist and hip girths) and blood samples were taken after obtaining written informed consent. Genotyping of MC4R rs17782313 single nucleotide polymorphism was done using restriction fragment length polymorphism method for polymerase chain reaction amplified fragments. We examined association between rs17782313 and different adiposity measures (height, weight, BMI, WHR, and waist and hip girths) using linear regression models. The MC4R variant (rs17782313) predicted increased body weight (0.15 kg, S.E ± 0.076, P = 0.043) among children. In combined population, the rs17782313 variant was moderately associated with body weight (0.13 kg, S.E ± 0.070, P = 0.057). This variant was not found to be associated with any other adiposity measure. Further studies are needed to evaluate the association of MC4R variants through sequencing and functional genomics with different adiposity measures in Indian populations for understanding the genetic underpinnings of adiposity in India. • Population based cross-sectional study exploring the association of MC4R gene with obesity measures in Indian population. • Significant association of MC4R loci was observed with body weight in children. • In pooled sample, association of MC4R loci with body weight was attenuated after adjusting with confounders. • Lack of genetic association with other adiposity measures might be due to low sample size of the study. [ABSTRACT FROM AUTHOR]

Previous studies have shown that the minor allele (C allele) for melanocortin 4 receptor (MC4R) rs17782313, may be associated with incidence of obesity and the risk of cardiovascular diseases (CVDs). Moreover, inflammation caused by the diet has been shown to have, potentially, unfavorable effects on CVD risk. This study used a linear regression model to investigate the interactions between the dietary inflammatory index (DII) and MC4R gene variants on markers of CVD. This comparative cross-sectional study was conducted on 266 Iranian women with overweight and obesity. A food frequency questionnaire (FFQ) with 147 items was used to assess dietary intakes. Individuals were categorized into three groups based on rs17782313 genotype. Participants were also divided into four groups based on DII score. Higher quartiles of DII were associated with lower levels of high density lipoproteins (HDL) (p = 0.01) and higher levels of triglycerides (TG) (p = 0.04). There was a significant difference between genotypes for insulin (p < 0.001), HOMA index (p < 0.001), total body mineral content (p = 0.03), and bone mineral content (BMC) (p = 0.04). Our findings also showed significant interactions between DII score and rs17782313 polymorphism on total cholesterol, total body mineral content, BMC, soft lean mass (SLM), fat free mass (FFM) (p = 0.03), skeletal muscle mass (SMM), and basal metabolic rate (BMR). Higher DII scores were associated with lower HDL levels and higher TG levels, respectively; whilst significant differences were observed between the genotypes of rs17782313 for insulin and HOMA index, total body mineral content, and BMC. These results highlight that dietary compositions, gene variants, and their interaction, should be considered in CVD risk assessment. [ABSTRACT FROM AUTHOR]

MC4R gene is known as an important candidate gene for the growth trait. The purpose of this research was to identify the MC4R gene in Kebumen Ongole grade cattle and examine its association with growth traits. Data of birth weight (BW), weaning weight (WW), birth body length (BBL), birth chest circumference (BCC), birth shoulder height (BSH), weaning body length (WBL), weaning chest circumference(WCC), weaning shoulder height (WSH) and average daily gain (ADG) were collected and used for analysis of MC4R gene. Sixty blood samples were collected for DNA isolation and PCR amplification. The single nucleotide polymorphisms (SNP) g.1133 C>G was used for genotyping by using PCR-RFLP methods. The frequenciy of G allele (0.59) was greater than C allele (0.41). The highest genotype frequencies have been detected in CG heterozygote animals (0.52) followed by GG (0.33) and CC (0.15) in homozygote animals. The results of Pearson ‘s Chi-square test indicated that the population was not deviate (P>0.05) from the Hardy-Weinberg equilibrium (HWE). The SNP g. 1133 C>G of MC4R gene indicated affecting high birth body length with GG genotype (PG may can be a marker for birth body length of calf selection.

Melanocortin receptor (MC4R) gene has been known as a candidate gene for growth traits in livestock. This research was aimed to identify the polymorphism of MC4R gene and its association with growth traits in Sumba Ongole (SO) cattle. The growth traits data consist of body weight and body size. Eighty four blood samples were collected and used for DNA isolation. The results showed one SNP (g.1133C>G) resulting in two alleles (C and G) and three genotypes (CC, CG, and GG) in SO cattle. The frequency of G allele (0.59) was higher than C allele (0.41). The CG genotype had the highest value of genotype frequency (0.48). The allele and genotype distributions followed the Hardy-Weinberg equilibrium. The single nucleotide polymorphism (SNP) g.1133C > G revealed having no significant association with growth traits in SO cattle. In conclusion, the SNP g.1133C > G may not useful as selection tool in Sumba Ongole cattle. It can be suggested that the future study is needed to find out the effect of the MC4R gene in Sumba Ongole cattle in different locus. [ABSTRACT FROM AUTHOR]

Background: Morbid obesity could last for a long period of life and increase the risk of morbidity as well as premature mortality. Although bariatric surgery benefits patients by quick weight loss, not all bariatric patients lose the same percentage of weight after a long time from surgery, which may be the result of diet, physical activity, and genetic components. Objectives: In this study, we evaluated the association between the MC4R gene and both excess weight loss percentage (EWL%) and excess BMI loss percentage (EBMIL%) in a cohort of bariatric surgery patients after 6 and 12 months from surgery. Methods: A total of 424 bariatric surgery patients who had participated in the Tehran Obesity Treatment Study and had weight measurements after 6 and 12 months from surgery were included in the study. Four SNPs in the MC4R gene were selected for evaluating the associations. Results: We found that rs17773430 had a significant effect on both EWL% and EBMIL%, especially after 12 months of bariatric surgery. Furthermore, three other SNPs, rs17782313, rs476828, and rs11152213, did not show any significant association with EWL% and EBMIL%. Conclusion: This study was the first to report on the association of rs17773430 with both EWL% and EBMIL% in a cohort of patients after bariatric surgery. We found that weight loss after surgery is influenced by genetic factors, and there were significant differences between the distribution of EWL% and EBMIL% in morbid obese bariatric patients who have two minor alleles of the rs17773430 and other SNPs. [ABSTRACT FROM AUTHOR]

MC4R gene is a hypothalamic satiety control mediator in which mutations cause a monogenic form of obesity. The aim of this study was to perform a genetic screening to identify variations in the entire region of MC4R gene. A total of 236 unrelated and severely obese patients (BMI ≥ 40 kg/m2) with Spanish ancestry and severe overweight familiar history have been enrolled into the study. Seven MC4R gene variants were identified in the heterozygous state in 21 patients. Coding variants p.Thr101Ile and p.Ala259Asp are new and variants p.Ser30Phe, p.Val103Ile and p.Ile251Leu were previously described. Two variants have been also observed in the promoter region of the MC4R gene; the c.-24G>A mutation, described for the first time, and the known c.-178A>C variant. Both in silico and family segregation analysis confirm the correlation between novel identified mutations in MC4R gene and obesity development. The correlation between the four variants (c.-24G>A, p.Thr101Ile, p.Ala259Asp and p.Ser30Phe) and the obesity phenotype, therefore, allows the conclusion that all of the four mutations cause a monogenic form of obesity. • Melanocortin-4 receptor (MC4R) gene represent the most common cause of monogenic obesity by influencing satiety and hunger. • The MC4R gene region was screened in a total of 236 unrelated severely obese patients. • Seven MC4R gene variants were identified in the heterozygous state in 21 patients. • Mutations p.Thr101Ile, p.Ala259Asp and c.-24G>A are new. • Both in silico and genotype-phenotype correlation suggest that p.Thr101Ile, p.Ala259Asp, and c.-24G>A variants impact on obesity development. [ABSTRACT FROM AUTHOR]

MC4R gene is known as an important candidate gene for the growth trait. The purpose of this research was to identify the MC4R gene in Kebumen Ongole grade cattle and examine its association with growth traits. Data of birth weight (BW), weaning weight (WW), birth body length (BBL), birth chest circumference (BCC), birth shoulder height (BSH), weaning body length (WBL), weaning chest circumference (WCC), weaning shoulder height (WSH) and average daily gain (ADG) were collected and used for analysis of MC4R gene. Sixty blood samples were collected for DNA isolation and PCR amplification. The single nucleotide polymorphisms (SNP) g.1133 C>G was used for genotyping by using PCR-RFLP methods. The frequenciy of G allele (0.59) was greater than C allele (0.41). The highest genotype frequencies have been detected in CG heterozygote animals (0.52) followed by GG (0.33) and CC (0.15) in homozygote animals. The results of Pearson's Chi-square test indicated that the population was not deviate (P>0.05) from the Hardy-Weinberg equilibrium (HWE). The SNP g. 1133 C>G of MC4R gene indicated affecting high birth body length with GG genotype (P<0.05). In conclusion, the SNP g. 1133 C>G may can be a marker for birth body length of calf selection. [ABSTRACT FROM AUTHOR]

MC4R (melanocortin 4 receptor) is expressed in the appetite-regulating areas of the brain and takes part in leptin signaling pathways. Sequencing of the coding region of the MC4R gene for 354 yaks identified the following five single nucleotide polymorphisms (SNPs): SNP1 (273C>T), SNP2 (321 G>T), SNP3 (864 C>A), SNP4 (1069G>C) and SNP5 (1206 G>C). SNP1, SNP2 and SNP3 were synonymous mutations, whereas SNP4 and SNP5 were missense mutations resulting in amino acid substitutions (V286L and R331S). Pairwise linkage disequilibrium (LD) analysis indicated that two pairs of SNPs, SNP2 and SNP5 (r2=0.81027) and SNP4 and SNP5 (r2=0.53816), exhibited higher degrees of LD. CC genotype of SNP4, CGACG and CTCCC haplotypes for all SNPs were associated with increased BW of animals that were 18 months old and with the average daily gain. The secondary structure and transmembrane region prediction of the yak MC4R protein suggested that SNP4 was correlated with influential changes in the seventh transmembrane domain of the MC4R protein and with the functional deterioration or even incapacitation of MC4R, which may contribute to the increased feed intake, BW and average daily gain of the yaks with CC genotypes. The data from this study suggested that 1069G>C SNP of the MC4R gene could be used in marker-assisted selection of growth traits in the Maiwa yak breed.

MC4R (melanocortin 4 receptor) is expressed in the appetite-regulating areas of the brain and takes part in leptin signaling pathways. Sequencing of the coding region of the MC4R gene for 354 yaks identified the following five single nucleotide polymorphisms (SNPs): SNP1 (273C>T), SNP2 (321 G>T), SNP3 (864 C>A), SNP4 (1069G>C) and SNP5 (1206 G>C). SNP1, SNP2 and SNP3 were synonymous mutations, whereas SNP4 and SNP5 were missense mutations resulting in amino acid substitutions (V286L and R331S). Pairwise linkage disequilibrium (LD) analysis indicated that two pairs of SNPs, SNP2 and SNP5 (r2=0.81027) and SNP4 and SNP5 (r2=0.53816), exhibited higher degrees of LD. CC genotype of SNP4, CGACG and CTCCC haplotypes for all SNPs were associated with increased BW of animals that were 18 months old and with the average daily gain. The secondary structure and transmembrane region prediction of the yak MC4R protein suggested that SNP4 was correlated with influential changes in the seventh transmembrane domain of the MC4R protein and with the functional deterioration or even incapacitation of MC4R, which may contribute to the increased feed intake, BW and average daily gain of the yaks with CC genotypes. The data from this study suggested that 1069G>C SNP of the MC4R gene could be used in marker-assisted selection of growth traits in the Maiwa yak breed. [ABSTRACT FROM PUBLISHER]

Background: To assess whether previously identified obesity-susceptibility loci were associated with overweight/obesity risk in a homogeneous population of Caucasian schoolchildren and whether these associations varied with age. Methods: Seven hundred and forty-five schoolchildren (353 boys, mean age: 8.3 ± 1.4 years) underwent anthropometric assessments. A saliva sample was collected for DNA extraction and assessment of 19 single-nucleotide polymorphisms previously associated with obesity. Results: Only the rs12970134 in the MC4R gene was significantly associated with overweight/obesity risk, with a higher frequency of the AA risk genotype in children with a BMI >85th (8.3%) than in those with a BMI <85th percentile (3.0%), p = 0.001; odds ratio (95% CI) of 1.544 (1.192-1.998), p = 0.001, after adjusting for age, sex and pubertal stage. BMI standard deviation scores (SDS) and waist-to-height ratio (W/Hr) progressively increased across the rs12970134 genotypes (GG vs. AG vs. AA): BMI SDS, p = 0.004; W/Hr, p = 0.009. When dividing the study population into two groups based on the median age of participants (8.3 years), the differences in BMI SDS and W/Hr across the MC4R genotypes persisted only in children older than 8.3 years. Conclusions: In a population of Caucasian schoolchildren, the rs12970134 MC4Rvariant was significantly associated with excess body weight, particularly in children older than 8 years of age. © 2014 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

We screened for mutations in the MC4R and LEPR genes and investigated the genotype-phenotype correlation in obese individuals belonging to families with evident hereditary patterns of severe and early-onset obesity among the Iberian population. A total of 202 unrelated and severely obese patients since childhood, were enrolled in the study. Bidirectional sequencing of the MC4R gene was carried out in all patients; the LEPR gene was sequenced in 15 individuals based on additional clinical signals. Segregation analysis and/or genotype-phenotype description was performed for subjects with the new mutations and with presumably functional variants. Ten MC4R gene mutations were identified in the heterozygous state in 10 patients. Mutations p.R147G and p.G323E are new and mutations p.R7H, p.G32E, p.H76R, p.V103I, p.S127L, p.T150I, p.I251L and p.G252S were previously described. A new dinucleotide insertion -77_-76insTA in the promoter region of the LEPR gene was found in the heterozygous state in one patient. The new p.R147G and the previously published p.R7H, p.S127L, p.T150I and p.G252S MC4R mutations, cosegregate with obesity in our patients and were predicted to be deleterious. For the novel MC4R p.G323E and LEPR -77_-76insTA gene mutations, the genotype-phenotype correlation and bioinformatic analysis did not clarify whether these mutations are indeed implicated in obesity. [ABSTRACT FROM AUTHOR]

Background: The melanocortin-4 receptor gene (MC4R) plays an important role in regulating food intake and body weight in mammals. In the present study, we identified the MC4R gene in native Korean brown, brindle, and black cattle by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP), and investigated its association with economic traits. A total of 413 cattle from the three breeds were tested for backfat thickness, carcass weight, longissimus muscle area, and marbling score, and statistical data were analyzed using the SAS program. Results: The C allele had the highest frequency in brown and brindle cattle, and the G allele frequency was highest in black cattle. The C1069G SNP was significantly (p < 0.05) associated with only marbling scores in brown and brindle cattle but no significant association was detected between the marbling scores and polymorphism in black cattle. Conclusions: These results suggest that a C1069G SNP of the MC4R gene may be useful as a genetic marker for marbling scores in Korean brown and brindle cattle. [ABSTRACT FROM AUTHOR]

The objective of this study was to analyze the effects of single and combined genotypes of MC4R and POU1F1 genes in Chinese well-known indigenous chicken (Langshan chicken) population. Genetic variants within MC4R gene and POU1F1 gene were screened through PCR-SSCP and DNA sequencing methods. A C/T mutation at nt 944 in MC4R gene (NC_006089.2:g. 944C>T) and a G/A mutation at nt 3109 in POU1F1 gene (NC_006088.2:g. 3109 G>A) were identified. Associations between the mutations of the two genes with two production traits were analyzed. The results showed that, at MC4R locus, individuals with BB and AB genotypes had highly significantly higher body weight at 16 weeks ( p < 0.01) than did those with the AA genotype. And, individuals within AA and AB genotypes had significantly higher egg numbers at 300 days ( p < 0.05). At POU1F1 locus, individuals with CD genotype had higher body weight at 16 weeks and egg numbers at 300 days ( p < 0.05). Furthermore, combined genotypes from these two loci were found to be associated with egg numbers at 300 days ( p < 0.05). The individuals within combined genotype AB/CD had higher egg production. Therefore, variations identified within the MC4R and POU1F1genes are suitable for future use in identifying chickens with the genetic potential of higher body weight and reproductive traits, at least in the population of Langshan chickens. [ABSTRACT FROM AUTHOR]

Background: Melanocortin-4 receptor (MC4R) is an important regulator of body weight and energy intake. Genetic polymorphisms of the MC4R gene have been found to be linked to obesity in many recent studies across the globe. Aim: This study aimed to examine the effects of MC4R polymorphisms on obesity parameters, Linkage disequilibrium (LD) pattern and haplotypes in Malaysian Malays. Methods: The study subjects were 652 Malaysian Malays. Genomic DNA was extracted from buccal swabs. Genotyping was performed using Sequenom MassARRAY® iPLEX platform. Anthropometric and blood lipid profiles were measured. Results: MC4R rs571312 SNP was associated with logBMI ( p = 0.008) and systolic blood pressure ( p = 0.005), while MC4R rs2229616 SNP was associated with total cholesterol (TC) levels ( p = 0.016). The MC4R rs7227255 SNP did not show any association with obesity parameters. Conclusions: The strength of LD of the MC4R gene region is low and the haplotypes were not associated with obesity in Malaysian Malays. [ABSTRACT FROM AUTHOR]

MC4R gene was proved to play important roles in body weight regulation in many mammals and exhibit higher homology among different species. The mutations MC4R significantly correlated to the restricted feeding weight, fat deposition and energy balance. In this work, ORF sequences of MC4R gene of Bos grunniens were cloned and phylogenetic relationships of yak and other mammals were analyzed on the basis of MC4R genes. Totally 290 variable sites were examined in 25 sequences from 22 different mammals, and 23 haplotypes were defined with a haplotype diversity of 0.9900. All the sequences were clustered into phylogenetic clades representing different orders or families. The individuals of Bos grunniens, Bos taurus and Ovis aries which belonged to the family of Bovidae were more divergent from the other orders or families and bovid animals may have branched out from the phylogenetic tree earlier than other mammals analyzed during 450 million years of vertebrate evolution. Amino acid sequences inferred from MC4R genes exhibited 54 variable sites, while high conservation of MC4R was observed within the same order or family. We concluded that coding region of MC4R gene displayed abundant variations among different mammal phylogenetic clades, whereas, the conservation of MC4R within order or family could be explained that MC4R gene may have been subjected to substantial constraints or strong purifying selection during several million years of mammal evolution. [ABSTRACT FROM AUTHOR]

There is evidence that the obesity phenotype in the Caucasian populations is associated with variations in several genes, including neuronal growth regulator 1 (NEGR1), SEC16 homolog B (SCE16B), transmembrane protein 18 (TMEM18), ets variant 5 (ETV5), glucosamine-6-phosphate deaminase 2 (GNPDA2), prolactin (PRL), brain-derived neurotrophic factor (BDNF), mitochondrial carrier homolog 2 (MTCH2), Fas apoptotic inhibitory molecule 2 (FAIM2), SH2B adaptor protein 1 (SH2B1), v-maf musculoaponeurotic fibrosarcoma oncogene homolog (MAF), Niemann-Pick disease, type C1 (NPC1), melanocortin 4 receptor (MC4R) and potassium channel tetramerisation domain containing 15 (KCTD15). To investigate the relationship between obesity and these genes in the Japanese population, we genotyped 27 single-nucleotide polymorphisms (SNPs) in 14 genes from obese subjects (n=1129, body mass index (BMI) 30 kg m−2) and normal-weight control subjects (n=1736, BMI <25 kg m−2). The SNP rs10913469 in SEC16B (P=0.000012) and four SNPs (rs2867125, rs6548238, rs4854344 and rs7561317) in the TMEM18 gene (P=0.00015), all of which were in almost absolute linkage disequilibrium, were significantly associated with obesity in the Japanese population. SNPs in GNPDA2, BDNF, FAIM2 and MC4R genes were marginally associated with obesity (P<0.05). Our data suggest that some SNPs identified by genome-wide association studies in the Caucasians also confer susceptibility to obesity in Japanese subjects. [ABSTRACT FROM AUTHOR]

Background and Aims: Weight management is recommended in overweight or obese breast cancer patients, as they have an increased risk of cancer recurrence and poor prognosis. Furthermore, identifying the relationships between genetic factors and nutrition could help suggest possible individualized nutritional solutions in weight management. The objective of this pilot randomized controlled trial was to investigate the influence of two obesity-associated single nucleotide polymorphisms and the Mediterranean diet intervention on weight loss and modification of nutrient intake and metabolic parameters in overweight or obese, postmenopausal, breast cancer patients receiving adjuvant hormone therapy., Methods: Seventy-eight breast cancer patients were randomly assigned to the Mediterranean diet (MeDiet) group or control group, and seventy-one were finally analyzed. Body composition, nutrient intake, and metabolic parameters were assessed at baseline and after the 8-week intervention. Fat mass and obesity-associated ( FTO ) rs7185735 and melanocortin-4 receptor ( MC4R ) rs476828 variants were genotyped., Results: We found that both variants did not influence weight loss or improvement of metabolic parameters within the Mediterranean diet intervention. Intake of saturated fatty acid (SFA) and trans fat was significantly increased in C carriers compared with the TT genotype of MC4R rs476828 only in the control group ( p = 0.002 for SFA; p = 0.016 for trans fat), whereas no significant difference was observed between genotypes in the MeDiet group. There were statistically significant interactions between MC4R rs476828 and dietary intervention for changes in SFA intake ( p = 0.009) and trans fat intake ( p = 0.049)., Conclusion: Our data suggest that considering the effects of genotype may be more necessary when the Mediterranean diet is not followed and that this diet may have a protective role against the effects of certain genotypes. Further studies are required to determine the potential mechanism of the observed gene-diet interaction., Clinical Trial Registration: [www.ClinicalTrials.gov], identifier [NCT04045392]., Competing Interests: K-WH and J-EC were employed by Theragen Etex Bio Institute Co., Ltd. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Cho, Hong, Kwon, Choi, Lee, Kim, Bae, Ahn, Jeong and Lee.)

The melanocortin-4 receptor (MC4R) gene harbours one of the strongest susceptibility loci for obesity and obesity-related metabolic consequences. We analysed whether dietary factors may attenuate the associations between MC4R genotypes and obesity and metabolic parameters. In 819 participants genotyped for common MC4R polymorphisms (rs17782313, rs12970134, rs633265, and rs135034), the anthropometric measurements, body fat content and distribution (visceral and subcutaneous adipose tissue, VAT and SAT, respectively), and blood glucose, insulin, total-, LDL-, HDL-cholesterol, triglycerides concentrations, and daily macronutrient intake were assessed. ANOVA or Kruskal–Wallis tests were used, and multivariate linear regression models were developed. We observed that the CC genotype carriers (rs17782313) presented higher VAT, VAT/SAT ratio, fasting blood glucose and triglyceride concentrations when they were stratified to the upper quantiles of protein intake. An increase in energy derived from proteins was associated with higher BMI (Est. 5.74, R2 = 0.12), body fat content (Est. 8.44, R2 = 0.82), VAT (Est. 32.59, R2 = 0.06), and VAT/SAT ratio (Est. 0.96, R2 = 0.05). The AA genotype carriers (rs12970134) presented higher BMI, body fat, SAT and VAT, fasting blood glucose, triglycerides and total cholesterol concentrations. An increase in energy derived from proteins by AA carriers was associated with higher VAT (Est.19.95, R2 = 0.06) and VAT/SAT ratio (Est. 0.64, R2 = 0.05). Our findings suggest that associations of the common MC4R SNPs with obesity and its metabolic complications may be dependent on the daily dietary intake, which may open new areas for developing personalised diets for preventing and treating obesity and obesity-related comorbidities. [ABSTRACT FROM AUTHOR]

The purpose of this experiment is to establish the detection conditions of polymerase chain reaction for growth performance genes of black pigs such as MC4R and GH, and to analyze their genotype frequencies. Total 66 weaner pigs from the KHAPS black pig and KHAPS black pig-high meat quality genotype line were involved in this experiment. The samples were collected from the 60 to 70 days old weaner pigs that body weights were between 6.9 to 25.1 kg. In addition, the genotypes of Melanocortin 4 receptor (MC4R) and growth hormone (GH) were analyzed. MC4R demonstrated 3 different genotypes that named 11, 12, and 22, as well as the genotype frequencies, which showed 60.61%, 27.27%, and 12.12% respectively. Similarly, GH also has is 3 genotypes, and named D1D1, D1D2 and D2D2. The genotype frequencies of GH were 16.67%, 50.00% and, 33.33%. The results show that the MC4R-12 and GH-D1D1 types indicate the highest birth weights that are 1.41 ± 0.05 and 1.41 ± 0.09 kg. Furthermore, in the 70-day old weaner pigs, MC4R-11 and GH-D1D1 genotypes show the highest body weights and are 15.12 ± 0.69 and 15.54 ± 1.34 kg respectively. In conclusion, we recommend that take type 11 of MC4R and type D1D1 of GH into the considerations of selection for breeding. [ABSTRACT FROM AUTHOR]

Melanocortin-4 receptor (MC4R) was considered as an essential modifiers in feelings intake, the regulation of metabolism and body weight. This study aimed at identifying polymorphisms in MC4R gene that might associate with carcass quality traits in Chinese indigenous beef cattle breed. qPCR analysis showed that the MC4R gene was widely expressed in various tissues, with predominantly expression levels in heart. Three single-nucleotide polymorphisms (SNPs) were identified, including a mutation (g.85A > G) in 5'untranslated regions (UTR) and two mutations (g.927C > T and g.1069C > G) in exon 1. Based on the χ 2 test, both g.927C > T and g.1069C > G loci fitted with Hardy-Weinberg equilibrium (P > .05). Population genetic analysis showed that except for g.85A > G, the other detected SNPs strongly affected the bovine back fat thickness and intramuscular fat content (P < .05). The individuals with Hap1/4 diplotypes (ACC-ATG) were highly significantly associated with carcass quality traits than the other diplotypes (P < .01 or P < .05). Results indicated that the bovine MC4R gene polymorphisms were implicated as genetic markers of potential importance in marker-assisted selection (MAS) strategies to improve carcass quality in Chinese Qinchuan cattle., Competing Interests: Declaration of Competing Interest The authors declare no conflict of interest., (Copyright © 2020 Elsevier Ltd. All rights reserved.)