Association study of rs17782313 polymorphism near MC4R gene with obesity/overweight, BMI, and hedonic hunger among women from Northwestern Iran

2021 ◽  
pp. 1-12
Author(s):  
Mahan Narjabadifam ◽  
Morteza Bonyadi ◽  
Seyed Abbas Rafat ◽  
Reza Mahdavi ◽  
Fereshteh Aliasghari
Keyword(s):  
Medical Condition ◽  
Sequencing Data ◽  
Mc4r Gene ◽  
Melanocortin 4 Receptor ◽  
Group Methods ◽  
Pcr Rflp ◽  
Hedonic Hunger ◽  
Hardy Weinberg Equilibrium ◽  
Northwestern Iran ◽  
Different Populations

BACKGROUND: Obesity, as a medical condition, results from interactions between environmental and genetic factors. The rs17782313 polymorphism, located 188kb downstream of the Melanocortin 4 Receptor (MC4R) gene, is one of the essential candidate genetic markers that has shown the highest association with obesity in different populations. OBJECTIVE: This study aimed to investigate the possible associations of rs17782313 polymorphism near the MC4R gene with obesity/overweight, body mass index (BMI), and hedonic hunger among women from the Iranian Azeri ethnic group. METHODS: Five hundred sixty-three women, composed of 396 patients with obesity/overweight and 167 unrelated healthy controls, were genotyped for the rs17782313 polymorphism by applying the polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP) method. RESULTS: This population was in Hardy-Weinberg equilibrium (P = 0.878). The study confirmed a significant association of rs17782313 with obesity, where subjects carrying the C/C genotype had higher odds of obesity (OR = 2.681, P = 0.005, 95%CI:1.340–5.365). Also, C allele carriers have statistically significantly higher BMI scores than those carrying the T allele (P = 0.029). However, no significant associations were found among PFS scores and genotypic/allelic groups of rs17782313 polymorphism (P = 0.368). CONCLUSIONS: Our findings suggest that rs17782313 polymorphism is strongly associated with obesity and BMI but not with hedonic hunger among Northwest Iran women. Moreover, the sequencing data analysis in several homozygous and heterozygous carriers of the C allele led to identifying a novel frameshift variant with TCT deletion (rs534212081) in the 166 upstream of rs17782313, which has not been reported so far.

scholarly journals Melanocortin-4 Receptor (MC4R) gene polymorphism and its effect on growth traits in Madura cattle

2019 ◽  
Vol 44 (1) ◽  
pp. 38
Author(s):  
P. W. Prihandini ◽  
S. Sumadi ◽  
G. Suparta ◽  
D. Maharani
Keyword(s):  
Growth Traits ◽  
Balance Control ◽  
Direct Sequencing ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Mc4r Gene ◽  
Melanocortin 4 Receptor ◽  
Pcr Rflp ◽  
Reverse Primer ◽  
Selection For

Melanocortin-4 receptor (MC4R) gene has an important role in the regulation of feed intake and energy balance control. The objective of this study was to identify the single nucleotide polymorphisms (SNPs) of MC4R gene and their association with growth traits in Madura cattle. A total of 198 calves were used in this study.Forward primer: 5’-GTCGGGCGTCTTGTTCATC-3’and reverse primer: 5’-GCTTGTGTTTAGCATCGCGT-3’ were used to amplify approximately 493 bp of MC4R gene. The results showed that two SNPs, g.1133C>G and g.1108C>T were identified by direct sequencing. The PCR-RFLP method was performed to genotype all individuals studied based on SNP g.1133C>G, and its SNP was significantly associated with shoulder height (SH) at yearling age (P<0.05). Animals with GG genotype had a higher SH (110.35±6.40cm) than those with CC (102.00±8.00 cm) and CG genotype (105.96±6.23 cm). The SNP g.1133 C>G changed amino acid from valine to leucine. In conclusion, the SNP g.1133C>G of the MC4R gene may be used as a marker-assisted selection for SH trait in Madura cattle.

scholarly journals Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants

2020 ◽  
Vol 45 (1) ◽  
pp. 155-169
Author(s):  
Bahram Namjou ◽  
◽  
Ian B. Stanaway ◽  
Todd Lingren ◽  
Frank D. Mentch ◽  
...  
Keyword(s):  
Energy Homeostasis ◽  
Phase Iii ◽  
Risk Haplotype ◽  
Class Iii ◽  
Sequencing Data ◽  
Coding Region ◽  
Obesity Class ◽  
Mc4r Gene ◽  
Melanocortin 4 Receptor ◽  
Coding Variants

Abstract Background/Objectives Melanocortin-4 receptor (MC4R) plays an essential role in food intake and energy homeostasis. More than 170 MC4R variants have been described over the past two decades, with conflicting reports regarding the prevalence and phenotypic effects of these variants in diverse cohorts. To determine the frequency of MC4R variants in large cohort of different ancestries, we evaluated the MC4R coding region for 20,537 eMERGE participants with sequencing data plus additional 77,454 independent individuals with genome-wide genotyping data at this locus. Subjects/Methods The sequencing data were obtained from the eMERGE phase III study, in which multisample variant call format calls have been generated, curated, and annotated. In addition to penetrance estimation using body mass index (BMI) as a binary outcome, GWAS and PheWAS were performed using median BMI in linear regression analyses. All results were adjusted for principal components, age, sex, and sites of genotyping. Results Targeted sequencing data of MC4R revealed 125 coding variants in 1839 eMERGE participants including 30 unreported coding variants that were predicted to be functionally damaging. Highly penetrant unreported variants included (L325I, E308K, D298N, S270F, F261L, T248A, D111V, and Y80F) in which seven participants had obesity class III defined as BMI ≥ 40 kg/m2. In GWAS analysis, in addition to known risk haplotype upstream of MC4R (best variant rs6567160 (P = 5.36 × 10−25, Beta = 0.37), a novel rare haplotype was detected which was protective against obesity and encompassed the V103I variant with known gain-of-function properties (P = 6.23 × 10−08, Beta = −0.62). PheWAS analyses extended this protective effect of V103I to type 2 diabetes, diabetic nephropathy, and chronic renal failure independent of BMI. Conclusions MC4R screening in a large eMERGE cohort confirmed many previous findings, extend the MC4R pleotropic effects, and discovered additional MC4R rare alleles that probably contribute to obesity.

scholarly journals Melanocortin 4 receptor (Mc4r) gene polymorphism and its association with body weights of some breeds of rabbit

2020 ◽  
Vol 47 (2) ◽  
pp. 1-7
Author(s):  
O. H. Osaiyuwu ◽  
U. F. O. Bolaji ◽  
O. A. Adeyinka ◽  
M. O. Akinyemi ◽  
A. E. Salako
Keyword(s):  
Body Weight ◽  
New Zealand ◽  
Gene Polymorphism ◽  
Rflp Analysis ◽  
The Body ◽  
Chi Square ◽  
Mc4r Gene ◽  
Fta Cards ◽  
Melanocortin 4 Receptor ◽  
Pcr Rflp

In livestock production, traditional methods of selection have always been the way to go. However, with the advent of genomics techniques, methods such as PCR-RFLP is been employed to identify single nucleotide polymorphism of likely candidate genes useful for livestock selection and improvement. Therefore, the aim of this study was to investigate the association of Melanocortin 4 Receptor (MC4R) gene polymorphism with the body weight ofrabbits. Seventy-four rabbits were used for this study consisting of six breeds; 26 Chinchilla, 3 Californian, 11 Dutch, 4 English Spot, 10 New Zealand White and 20 Fauve de Bourgogne (FDB) breeds. Blood samples were collected from the animals with needle and syringe and transferred unto FTA cards and stored away from light. Body weight measurements on the animals were recorded from 2 weeks to 20 weeks. PCR-RFLP analysis produced threegenotypes AA, AG, GG with genotype frequency of 0.14, 0.69 and 0.18 respectively. Allele frequency 0.48 and 0.52 for allele A and G respectively was obtained. Chi-square test showed that the population was not in Hardy-Weinberg equilibrium. Association analysis between the MC4R “c.101G>A” SNP and body weight of rabbit was tested using GLM procedure of SAS programme. Genotype GG had higher body weight (p<0.05) at 12, 16 and 20 weeks inthe Dutch rabbits while genotype AA recorded a higher (p<0.05) body weight value at 12 weeks in New Zealand White rabbits. More so, female Dutch rabbits had higher (p<0.05) mean weight than the males at 12, 16 and 20 weeks of age. Male New Zealand White breeds recorded higher (p<0.05) mean weight than the female animals. The result of the study showed that MC4R “c.101G>A” SNP was not associated with the body weight in the studied rabbit population, although, genotype AA had higher mean weight values at 12, 16 and 20 weeks of age than genotypes AG and GG. 

scholarly journals SNPs detection in 5’-UTR region of the MC4R gene in Garut sheep

2021 ◽  
Vol 888 (1) ◽  
pp. 012001
Author(s):  
A P Z N L Sari ◽  
I R Athifa ◽  
Panjono ◽  
R Hidayat ◽  
A Barli ◽  
...  
Keyword(s):  
Growth Traits ◽  
Equilibrium Analysis ◽  
Sample Population ◽  
Alignment Position ◽  
Blood Samples ◽  
Mc4r Gene ◽  
Melanocortin 4 Receptor ◽  
Genotype Frequencies ◽  
Hardy Weinberg Equilibrium ◽  
G 14

Abstract The melanocortin-4 receptor (MC4R) gene has been linked to controlling feeding behavior and body weight. The objective of this study was to detect the polymorphism within the 5’-UTR region of the MC4R gene in Garut sheep. A total of 36 blood samples were isolated and amplified using primers (forward: 5’-TTCGTTTGGGGCAAGTCAAG-3’ and reverse: 5’-GGAAACGCTCACCAACATGT-3’). Two SNPs, g.396C/T and g.399C/G, were discovered in the 5‘UTR region based on sequence alignment (position number based on Genbank acc no. NC_040274). For both SNPs, only two genotypes were found in the samples. Both SNPs had identical allele and genotype frequencies. The C allele (86%, n=26) was higher than the T (g.396C/T) and G allele (g.399C/G) (14%, n=10). The homozygous CC genotype has a higher frequency (72%) in both SNP g.396C/T and g.399C/G, followed by CT and CG genotype (28%), respectively. The Hardy-Weinberg equilibrium analysis resulted in the sample population did not deviate (χ2<5.59). Further analysis could be suggested to provide an overview of this polymorphism effect in Garut sheep’s growth traits.

scholarly journals Association of \(\textit{FSIP2}\) rs4666689 and \(\textit{PON2}\) rs7493 with male infertility in Vietnamese population

2021 ◽  
Vol 43 (3) ◽  
pp. 77-85
Author(s):  
Tran Huu Dinh ◽  
Dinh Thanh Thao ◽  
Luong Thi Lan Anh ◽  
Bui Minh Duc ◽  
Nguyen Thuy Duong
Keyword(s):  
Male Infertility ◽  
Population Total ◽  
P Values ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Global Health Issue ◽  
Hereditary Factors ◽  
Vietnamese Population ◽  
Hardy Weinberg Equilibrium ◽  
Different Populations

Reproductive impairment in men is a multifactorial disease and is currently considered a global health issue. Previous studies have investigated the correlation between genetic variants and male infertility in different populations. However, such studies have appeared in limited amounts in the Vietnamese population. This study aimed to assess the association of polymorphisms FSIP2 rs4666689 and PON2 rs7493 with male infertile susceptibility in the Vietnamese population. Total DNAs were isolated from 376 samples, including 175 males with infertility and 201 controls having at least one child. For FSIP2 rs4666689, all 376 samples were applied for genotyping using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). For PON2 rs7493, only 178 samples (80 infertile patients and 98 controls) were used to assess genotype frequencies. By using statistical methods, we showed that the distribution of their genotypes was in accordance with Hardy-Weinberg equilibrium (p-values > 0.05). However, no association between both polymorphisms (FSIP2 rs4666689 and PON2 rs7493) and male infertility in the Vietnamese population was detected (p-values > 0.05). This study would help enrich to the knowledge about the effects of hereditary factors on male infertility in the Vietnamese population.

Melanocortin-4 Receptor Gene Variation Is Associated with Eating Behavior in Chilean Adults

2015 ◽  
Vol 68 (1) ◽  
pp. 35-41 ◽  
Author(s):  
Javier A. Vega ◽  
Gloria Salazar ◽  
María Isabel Hodgson ◽  
Luis Rodrigo Cataldo ◽  
Macarena Valladares ◽  
...  
Keyword(s):  
Eating Behavior ◽  
Emotional Eating ◽  
Leptin Receptor ◽  
Receptor Gene ◽  
Pathogenic Mutation ◽  
Gene Variation ◽  
Mc4r Gene ◽  
Melanocortin 4 Receptor ◽  
Melanocortin 4 Receptor Gene ◽  
Mc4r Rs17782313

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.

scholarly journals Association of RBP4 Genotype with Phenotypic Reproductive Traits of Sows

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
A. Marantidis ◽  
G. P. Laliotis ◽  
M. Avdi
Keyword(s):  
Litter Size ◽  
Negative Impact ◽  
Reproductive Traits ◽  
Retinol Binding Protein ◽  
Rapid Improvement ◽  
Retinol Binding Protein 4 ◽  
Reproductive Characteristics ◽  
Pcr Rflp ◽  
Hardy Weinberg Equilibrium ◽  
Rbp4 Gene

PCR-RFLP was applied to a commercial crossbred pig population in order to investigate the association between polymorphism (SNP) of Retinol-binding protein 4 (RBP4) gene and reproductive performance. 400 sows were genotyped and 2000 records of reproductive traits were used in order to retrieve information about the allele frequencies and the association of the RBP4 gene with main reproductive characteristics of the population. A deviation from the Hardy-Weinberg equilibrium was observed as a result of the AB genotype excess. In addition, the AA genotype saw statistically significant higher values of (i) the total number of born piglets (p<0.05), (ii) the number of piglets born alive (p<0.01), and (iii) the number of weaned piglets (p<0.01). The number of the mummified piglets and the number of the piglets born dead did not differ between the various RBP4 genotypes. Interestingly, the AA genotype had a negative impact (p<0.05) on the number of piglets born dead, resulting indirectly in a larger litter size. In conclusion, the AA genotype and in extension the A allele of RBP4 gene are in favor of producing larger litter size, suggesting that the RBP4 gene may be used in Marker-Assisted Selection (MAS) programs for a rapid improvement of the reproductive characteristics in pigs.

scholarly journals Identifikasi Keragaman Gen FTO Pada Bangsa Sapi Potong Indonesia

2019 ◽  
Vol 6 (2) ◽  
pp. 232
Author(s):  
Sutikno Sutikno ◽  
Rudy Priyanto ◽  
Cece Sumantri ◽  
Jakaria Jakaria
Keyword(s):  
Beef Cattle ◽  
Genetic Markers ◽  
Direct Sequencing ◽  
Nucleotide Position ◽  
Fto Gene ◽  
Blood Samples ◽  
Pcr Rflp ◽  
Gene Functions ◽  
Hardy Weinberg Equilibrium ◽  
Cattle Blood

ABSTRAK Gen FTO berfungsi sebagai regulasi homeostasis, deposisi lemak dan pengaturan obesitas. Penelitian ini bertujuan untuk mengidentifikasi polimorfisme SNP g.125550A>T di ekson 3 gen FTO pada bangsa sapi potong Indonesia. Sampel darah diperoleh dari 209 ekor sapi, terdiri atas sapi bali (44), madura (20), Pesisir (20), katingan (20), Peranakan ongole (PO) (22), Pasundan (20), Sumba Ongole (SO) (11), brahman (20), simental (15), dan limousin (18). Polimorfisme gen FTO dianalisis menggunakan metode PCR-RFLP (HpyCH4III) dan direct sequencing. Hasil genotiping SNP g.125550A>T adalah polimorfik (genotipe AA, AT, dan TT) pada sapi madura, pesisir, katingan, PO, pasundan, SO, brahman, simental, dan limousin. Frekuensi alel A dan T masing-masing adalah 0,70, 0,68, 0,84, 0,89, 0,70, 0,86, 0,90, 0,73, 0,69 dan 0,30, 0,33, 0,16, 0,11, 0,30, 0,14, 0,10, 0,27, 0,31. Nilai Ho dan He masing-masing adalah 0,60-0,14 dan 0,44-0,18 serta dalam keseimbangan Hardy-Weinberg (P>0.05). Sementara pada sapi bali bersifat monomorfik hanya bergenotipe AA. Hasil sekuensing SNP g.125550A>T ditemukan mutasi tranvesi A menjadi T pada posisi nukleotida  g.125550. Berdasarkan hasil penelitian ini, dapat disimpulkan bahwa SNP 125550A>T gen FTO beragam dan berpotensi dijadikan marka genetik untuk kualitas daging pada bangsa sapi potong Indonesia.Kata Kunci: gen FTO, PCR-RFLP, Sapi, SNP g.125550A>TABSTRACTThe FTO gene functions as regulation of homeostasis, fat deposition and regulation of obesity. This study aimed to identify the polymorphism of SNP g.125550A>T in exon 3 of FTO gene in Indonesian beef cattle. Blood samples were collected from 209 cattle, including bali (44), madura (20), pesisir (20), katingan (20), PO (22), pasundan (20), SO (11), brahman (20), simental (15), and limousin (18). Polymorphism of the FTO gene was analyzed using PCR-RFLP (HpyCH4III) and direct sequencing methods. The results of genotyping SNP g.125550A>T was polymorphic (AA, AT and TT genotypes) in madura, pesisir, katingan, PO, pasundan, SO, brahman, simental, and limousin cattle. The frequency of A and T alleles were 0,70, 0,68, 0,84, 0,89, 0,70, 0,86, 0,90, 0,73, 0,69 and 0,30, 0,33, 0,16, 0,11, 0,30, 0,14, 0,10, 0,27, 0,31 respectively. The values of Ho and He were 0,60-0,14 and 0,44-0,18 respectively and in Hardy-Weinberg equilibrium (P>0,05). While in Bali cattle was monomorphic (AA genotype). Results of sequencing SNP g.125550A>T of the FTO gene found a transverse mutation A to T at the nucleotide position g.125550. As a result of this study, it can be concluded that SNP 125550A>T of the FTO gene was diverse and potentially used as genetic markers for meat quality in Indonesian beef cattle.Keywords: cattle, FTO gene, PCR-RFLP, SNP g.125550A>T.

scholarly journals Genetic Polymorphism of SCD1 Gene of Holstein-Friesian Cows in Indonesia

2019 ◽  
Vol 24 (2) ◽  
pp. 56
Author(s):  
Ari Sulistyo Wulandari ◽  
HD Rahayu ◽  
SD Volkandari ◽  
N Herlina ◽  
S Anwar ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Genetic Polymorphism ◽  
Breeding Strategy ◽  
Holstein Friesian ◽  
Pcr Rflp ◽  
Hardy Weinberg Equilibrium ◽  
Molecular Selection ◽  
Friesian Cattle ◽  
Selection Of ◽  
Friesian Cows

<p class="abstrak2">Stearoyl-Coenzyme A desaturase 1 (SCD1) belongs to the fatty acid family of desaturases. In lactating ruminants, the SCD1 protein is highly expressed in the mammary gland and is relevant for the fatty acid composition of milk and dairy products. Polymorphism of SCD1 gene in Holstein-Friesian (HF) cows could be used as a basis of molecular selection of cattle in order to increase their productivity. The aim of this study was to investigate the polymorphism of SCD1 gene of Holstein-Friesian cows in Indonesia. A total of 162 blood samples of HF cows were collected from four different locations i.e. Bogor, Sukabumi, Tasikmalaya and Enrekang districts. Genotyping of SCD1 gene used PCR-RFLP method with NcoI restriction enzyme. The result showed that three genotypes (AA, AV and VV) and two alleles (A and V) have successfully found and polymorphic. A allele was dominant in all populations (0.63) and in Hardy Weinberg Equilibrium. The highest A allele was found in Sukabumi (0.78) and the lowest was in Bogor (0.55). Heterozigosity observed and expected reached 0.471 and 0.470, respectively. In conclusion, genetic polymorphism was found in all population with dominant of A allele. This finding can be used as a early genetic information of Holstein-Friesian cattle in Indonesia and to build breeding strategy for improving of productivity especially improving of healthy fat milk. </p><p class="abstrak2"><span><br /></span></p>

scholarly journals Melanocortin-4 receptor and leptin as genes for the selection of superior Madrasin cattle

2021 ◽  
pp. 3224-3228
Author(s):  
Budi Utomo ◽  
Rimayanti Rimayanti ◽  
Indah Norma Triana ◽  
Amaq Fadholly
Keyword(s):  
Genetic Improvement ◽  
Fragment Length Polymorphism ◽  
Growth Traits ◽  
Molecular Characteristics ◽  
Chain Reaction ◽  
Mc4r Gene ◽  
Melanocortin 4 Receptor ◽  
Polymerase Chain ◽  
Selection Of ◽  
Restriction Fragment Length

Background and Aim: The genetic improvement of cattle through livestock section is based on quantitative, qualitative, and molecular characteristics. This study examined polymorphisms of the melanocortin-4 receptor (MC4R) and leptin genes as a reference for the selection of superior breeds in Madrasin cattle. Materials and Methods: The leptin and MC4R genes of Madrasin cattle were amplified using polymerase chain reaction (PCR); then, restriction fragment length polymorphism of the leptin gene was performed using the restriction enzyme BsaA1, at site 2793 with ACGT point position. Results: The leptin gene was divided into three bands, namely, AA with one fragment (522 bp), CG with two fragments (441 bp and 81 bp), and AG with three fragments (522 bp, 441 bp, and 81 bp). The MCR-4 gene was divided into three bands, namely, 493 bp, 318 bp, and 175 bp. Conclusion: The MC4R and leptin genes can act as molecular markers for growth traits in Madrasin cattle and can be used to genetically optimize and improve growth. The GG allele of the MC4R gene and the AA allele of the leptin gene can be used in Madrasin cattle.

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