RESUMO
The A-20C polymorphism in the angiotensinogen (AGT) gene has been associated with increased risk of essential hypertension in several studies; however, these studies gave inconsistent results. In this study, we performed a meta-analysis to assess the association between AGT A-20C polymorphism and essential hypertension. Published literature was retrieved from PubMed. Pooled odd's ratio (OR) with 95% confidence interval (CI) was calculated using fixed- or random-effect models. A total of 10 case-control studies containing 3653 cases and 3457 controls were enrolled to this meta-analysis. In a combined analysis, the results showed a significant association between the AGT A-20C polymorphism and risk of essential hypertension (AA vs CC: OR = 0.62, 95%CI = 0.46-0.84; recessive model: OR = 0.66, 95%CI = 0.49-0.88). In the subgroup analysis stratified by race, significant associations were found between the AGT A-20C polymorphism and essential hypertension risk in Asians (AA vs CC: OR = 0.59, 95%CI = 0.43-0.80; recessive model: OR = 0.63, 95%CI = 0.46-0.85). In conclusion, the results of this meta-analysis suggested that the AGT A-20C polymorphism was associated with risk of essential hypertension in Asians.
Assuntos
Angiotensinogênio/genética , Hipertensão/genética , Polimorfismo de Nucleotídeo Único/genética , Povo Asiático , Hipertensão Essencial , Predisposição Genética para Doença/genética , Humanos , Razão de ChancesRESUMO
RFamide-related peptide (RFRP) gene is a crucial gene of the hypothalamo-pituitary-gonadal axis and plays an important role in reproduction regulation. This study aimed to clone and characterize the pig RFRP gene. We obtained a 645-bp cDNA of pig RFRP gene comprising a 546-bp open reading frame, which encoded a peptide of 188 amino acids. The pig RFRP coding sequences have the identities of 81, 68.8, and 76.1% with their counterparts in humans, mice, and rats, respectively. Real-time polymerase chain reaction showed that the pig RFRP gene was expressed predominantly in the stomach and testis of males, and large intestine and uterus of females. It was also found to be abundantly expressed in the cerebrum and liver tissues of both male and female pigs. The pig RFRP gene is 4.6 kb long and contains 3 exons and 2 introns. We further identified a total of 25 single nucleotide polymorphisms and 2 insertion/deletion (indel) polymorphisms across the whole RFRP gene, and 9 of them were in the exons. Marker trait association analysis in Yorkshire and Landrace populations showed that g.45859759C>T was significantly associated with the total number born of second parity (TBA2; P < 0.05). In conclusion, the pig RFRP gene was cloned and characterized in this study, and its polymorphism g.45859759C>T showed significant associations with reproductive traits.
Assuntos
Neuropeptídeos/genética , Reprodução/genética , Suínos/genética , Testículo/crescimento & desenvolvimento , Animais , Éxons/genética , Feminino , Regulação da Expressão Gênica , Humanos , Masculino , Camundongos , Fenótipo , Polimorfismo de Nucleotídeo Único , Ratos , Reação em Cadeia da Polimerase em Tempo Real , Suínos/crescimento & desenvolvimentoRESUMO
Natural resistance-associated macrophage protein 1 and 2 encoding genes (Nramp1 and Nramp2) are related to many diseases. We cloned the cDNA of chicken Nramp1 and Nramp2 genes, characterized their expression and polymorphisms, and investigated the association of some SNPs with resistance to salmonellosis. The Nramp1 cDNA was 1746 bp long and the Nramp2 cDNA was 1938 bp long. These cDNAs are similar to previously reported cDNAs, varying by two and one amino acids, respectively. The chicken Nramp1 gene expressed predominantly in liver, thymus and spleen in both females and males. The Nramp2 gene expressed in almost all tissues, but predominantly in breast muscle, leg muscle, cerebrum, cerebellum, lung, kidney, and heart in both females and males. We identified 45 SNPs and 2 indels in the chicken Nramp1 gene; three of 13 SNPs in the exons were missense mutations (Arg223Gln, Ala273Glu and Arg497Gln). Association analysis indicated that A24101991G is significantly associated with chicken salmonellosis resistance. These results will be useful for functional investigation of chicken Nramp1 and Nramp2 genes.
Assuntos
Proteínas de Transporte de Cátions/genética , Galinhas/genética , Infecções por Salmonella/genética , Sequência de Aminoácidos , Animais , Sequência de Bases , Galinhas/microbiologia , Clonagem Molecular , DNA Complementar/genética , Éxons , Feminino , Estudos de Associação Genética/métodos , Masculino , Dados de Sequência Molecular , Filogenia , Polimorfismo de Nucleotídeo Único , Infecções por Salmonella/prevenção & controle , Análise de Sequência de DNARESUMO
The dopamine D2 receptor (DRD2) is a crucial mediator for normal physiological processes. We cloned the pig DRD2 gene, investigated its distribution in tissues and identified polymorphisms by RT-PCR, quantitative real-time PCR and direct sequencing. Two Yorkshire pigs from Guangdong Academy of Agricultural Sciences (Guangzhou, China) were selected to clone the gene and investigate its expression; 16 individuals from four pig breeds (Yorkshire, Landrace, small-ear spotted, and Xinchang) were used to scan the variations. The two transcripts (DRD2L and DRD2S), obtained through insertion or deletion of exon 5 and part of 3'UTR, were found to encode 444- and 415-amino acid proteins, respectively. The 574-bp indel in 3'UTR comprises five miRNA targeting sites, based on bioinformatics predictions. The pig DRD2 gene expresses predominantly in the pituitary gland, and then in oviducts and the hypothalamus. Both DRD2L and DRD2S mRNA were detected in cerebrum, cerebellum, hypothalamus, pituitary gland, back muscle, oviduct, uterus, and testis tissues; DRD2L was more abundant than DRD2S. The DRD2 gene is located on chromosome 9 and contains seven exons. Sixty-one different sequences were identified in this gene; among seven in the coding region, only one altered the encoded amino acid. These findings will help us understand the functions of the DRD2 gene in pigs.
Assuntos
Cruzamento , Regulação da Expressão Gênica , Variação Genética , Receptores de Dopamina D2/genética , Sus scrofa/genética , Regiões 3' não Traduzidas/genética , Sequência de Aminoácidos , Animais , Pareamento de Bases/genética , Sequência de Bases , Sítios de Ligação , China , Clonagem Molecular , DNA Complementar/genética , Feminino , Perfilação da Expressão Gênica , Genoma/genética , Masculino , MicroRNAs/genética , MicroRNAs/metabolismo , Dados de Sequência Molecular , Fases de Leitura Aberta/genética , Especificidade de Órgãos/genética , Polimorfismo de Nucleotídeo Único/genética , Ligação Proteica/genética , Receptores de Dopamina D2/química , Deleção de Sequência/genéticaRESUMO
We looked for variations that could be associated with chicken egg number at 300 days of age (EN300) in seven genes of the hypothalamic-pituitary-gonadal axis, including gonadotrophin-releasing hormone-I (GnRH-I), GnRH receptor (GnRHR), neuropeptide Y (NPY), dopamine D2 receptor (DRD2), vasoactive intestinal polypeptide (VIP), VIP receptor-1 (VIPR-1), prolactin (PRL), and the QTL region between 87 and 105 cM of the Z chromosome. Ten mutations in the seven genes were chosen to do marker-trait association analyses in a population comprising 1310 chickens, which were obtained from a company located in Guangdong Province of China. The C1704887T of VIPR-1 was found to have a highly significant association with EN300. The T5841629C of DRD2 and the C1715301T of VIPR-1 were significantly associated with EN300. A highly significant association was also found between the C1704887T-C1715301T haplotypes of VIPR-1 and EN300. H1H3 had the highest EN300. Four PCR-RFLP variations in the candidate QTL region were selected to investigate their genetic effects on EN300. The haplotypes of T32742468C-G32742603A in this region showed a highly significant association with EN300. Bioinformatics analyses showed that both T32742468C and G32742603A were located in intron 1 of the SH3-domain GRB2-like 2 (SH3GL2) gene. We conclude that five SNPs, including C1704887T and C1715301T of VIPR-1, T5841629C of DRD2, and T32742468C and G32742603A of SH3GL2, would be useful as markers for breeding to increase chicken EN300.