Association of 20 potential ATP2B1‐interacting genes with blood pressure in Koreans

Kyung‐Won Hong,Hyun‐Seok Jin,Ji‐Eun Lim,Bermseok Oh 한국유전학회 2011 Genes & Genomics Vol.33 No.3

Plasma membrane calcium‐transporting ATPase 1 (ATP2B1)is associated significantly with blood pressure in Caucasians and Asians. ATP2B1 regulates calcium homeostasis and belongs to the P‐type calcium pump family; several studies have identified diverse proteins that bind to ATP2B1. We hypothesized that ATP2B1 regulates blood pressure through ATP2B1‐interacting genes. To this end, 20 potential ATP2B1‐interacting genes were selected, 197 SNPs of which were analyzed for their association of systolic and diastolic blood pressure. These 20 genes were categorized into 2 groups: ATP2B1‐binding genes and ATP2B1‐cleaving calpain family members. Three ATP2B1‐binding genes (CALM1, NOS1, and PDLIM1)were associated with blood pressure, and a SNP in CALM1(rs2401887) generated the strongest association signal (beta=‐3.60±0.92, p=8.9×10^(‐5) for systolic blood pressure and beta=‐1.40±0.62, p=0.02 for diastolic blood pressure). Of the calpain family members, 3 genes (CAPN6, CAPN9, and CAPN10)were associated with blood pressure, and the CAPN10 SNP rs4676348 yielded the strongest association signal (beta=‐0.88±0.27, p=0.001 for systolic blood pressure and beta=‐0.58±0.18, p=0.015 for diastolic blood pressure). Further, the interaction of CALM1 to ATP2B1 was examined using the blood pressure of individuals who carried both variants of CALM1and ATP2B1 genes. Similarly the interaction of CAPN10 to ATP2B1 was also examined. The CALM1 variant (rs2401887)and CAPN10 variants (rs4676348) appear to decrease blood pressure further in addition to the decrease by the variant (rs17249754) of ATP2B1, which suggests that ATP2B1 might regulate blood pressure through the ATP2B1‐interacting genes CALM1 and CAPN10.

Polymorphisms in Epigenetic and Meat Quality Related Genes in Fourteen Cattle Breeds and Association with Beef Quality and Carcass Traits

Xuan Liu,Tahir Usman,Yachun Wang,Zezhao Wang,Xianzhou Xu,Meng Wu,Yi Zhang,Xu Zhang,Qiang Li,Lin Liu,Wanhai Shi,Chunhua Qin,Fanjun Geng,Congyong Wang,Rui Tan,Xixia Huang,Airong Liu,Hongjun Wu,Shixin Ta 아세아·태평양축산학회 2015 Animal Bioscience Vol.28 No.4

Improvement for carcass traits related to beef quality is the key concern in beef production. Recent reports found that epigenetics mediates the interaction of individuals with environment and nutrition. The present study was designed to analyze the genetic effect of single nucleotide polymorphisms (SNPs) in seven epigenetic-related genes (DNMT1, DNMT3a, DNMT3b, DNMT3L, Ago1, Ago2, and HDAC5) and two meat quality candidate genes (CAPN1 and PRKAG3) on fourteen carcass traits related to beef quality in a Snow Dragon beef population, and also to identify SNPs in a total of fourteen cattle populations. Sixteen SNPs were identified and genotyped in 383 individuals sampled from the 14 cattle breeds, which included 147 samples from the Snow Dragon beef population. Data analysis showed significant association of 8 SNPs within 4 genes related to carcass and/or meat quality traits in the beef populations. SNP1 (13154420A>G) in exon 17 of DNMT1 was significantly associated with rib-eye width and lean meat color score (p<0.05). A novel SNP (SNP4, 76198537A>G) of DNMT3a was significantly associated with six beef quality traits. Those individuals with the wild-type genotype AA of DNMT3a showed an increase in carcass weight, chilled carcass weight, flank thicknesses, chuck short rib thickness, chuck short rib score and in chuck flap weight in contrast to the GG genotype. Five out of six SNPs in DNMT3b gene were significantly associated with three beef quality traits. SNP15 (45219258C>T) in CAPN1 was significantly associated with chuck short rib thickness and lean meat color score (p<0.05). The significant effect of SNP15 on lean meat color score individually and in combination with each of other 14 SNPs qualify this SNP to be used as potential marker for improving the trait. In addition, the frequencies of most wild-type alleles were higher than those of the mutant alleles in the native and foreign cattle breeds. Seven SNPs were identified in the epigenetic-related genes. The SNP15 in CAPN1 could be used as a powerful genetic marker in selection programs for beef quality improvement in the Snow Dragon Beef population.

Polymorphisms in Epigenetic and Meat Quality Related Genes in Fourteen Cattle Breeds and Association with Beef Quality and Carcass Traits

Liu, Xuan,Usman, Tahir,Wang, Yachun,Wang, Zezhao,Xu, Xianzhou,Wu, Meng,Zhang, Yi,Zhang, Xu,Li, Qiang,Liu, Lin,Shi, Wanhai,Qin, Chunhua,Geng, Fanjun,Wang, Congyong,Tan, Rui,Huang, Xixia,Liu, Airong,Wu, Asian Australasian Association of Animal Productio 2015 Animal Bioscience Vol.28 No.4

Improvement for carcass traits related to beef quality is the key concern in beef production. Recent reports found that epigenetics mediates the interaction of individuals with environment and nutrition. The present study was designed to analyze the genetic effect of single nucleotide polymorphisms (SNPs) in seven epigenetic-related genes (DNMT1, DNMT3a, DNMT3b, DNMT3L, Ago1, Ago2, and HDAC5) and two meat quality candidate genes (CAPN1 and PRKAG3) on fourteen carcass traits related to beef quality in a Snow Dragon beef population, and also to identify SNPs in a total of fourteen cattle populations. Sixteen SNPs were identified and genotyped in 383 individuals sampled from the 14 cattle breeds, which included 147 samples from the Snow Dragon beef population. Data analysis showed significant association of 8 SNPs within 4 genes related to carcass and/or meat quality traits in the beef populations. SNP1 (13154420A>G) in exon 17 of DNMT1 was significantly associated with rib-eye width and lean meat color score (p<0.05). A novel SNP (SNP4, 76198537A>G) of DNMT3a was significantly associated with six beef quality traits. Those individuals with the wild-type genotype AA of DNMT3a showed an increase in carcass weight, chilled carcass weight, flank thicknesses, chuck short rib thickness, chuck short rib score and in chuck flap weight in contrast to the GG genotype. Five out of six SNPs in DNMT3b gene were significantly associated with three beef quality traits. SNP15 (45219258C>T) in CAPN1 was significantly associated with chuck short rib thickness and lean meat color score (p<0.05). The significant effect of SNP15 on lean meat color score individually and in combination with each of other 14 SNPs qualify this SNP to be used as potential marker for improving the trait. In addition, the frequencies of most wild-type alleles were higher than those of the mutant alleles in the native and foreign cattle breeds. Seven SNPs were identified in the epigenetic-related genes. The SNP15 in CAPN1 could be used as a powerful genetic marker in selection programs for beef quality improvement in the Snow Dragon Beef population.

한우, 칡소 및 제주 흑우 Calpain-Calpastatin 유전자 다양성

이승환,김승창,조수현,최봉환,Aditi Sharma,임다정,당창권,장선식,김재환,고문석,양보석,강희설 충남대학교 농업과학연구소 2013 농업과학연구 Vol.40 No.2

The aim of study was to investigate genetic diversity for the calpain/calpastatin gene in three Hanwoo breeds [(Brown (n=62), Brindle (n=81) and Jeju Black (n=30)]. Random samples from three breeds of Hanwoo were selected and genotyped for the 7 SNPs of calpain/calpastatin using TaqMan method. Allele frequencies were investigated for CAPN1/CAST gene. Allele frequency of CAST2 SNP was 0.75, 0.59 and 0.22 for Brown, Brindle and Jeju black, respectively. The CAST3 revealed allele frequency of 0.59 and 0.57 in Brown and Jeju Black, while it showed very low allele frequency (0.07) in Brindle. In particular, favorable allele (G allele) for the CAPN1-2 SNP which was shown a strong association with tenderness in Taurine and Indicine cattle revealed 16% and 17% higher allele frequency in Brown Hanwoo (0.82) comparing Brindle (0.66) and Jeju Black Hanwoo (0.65). AMOVA demonstrated that among population variance occupied only 10% of total variance and among individual variance was 0%, while within individual variance was 90% of total variance. This result showed that population effect contributed very small portion of genetic to these three Hanwoo breeds, while within individual variance contributed large portion of genetic diversity within these Hanwoo breeds. In conclusion, three Hanwoo breeds (Brown, Brindle and Jeju black) showed a genetically homogeneous based on the 7 SNPs of CAPN1/CAST gene and it came from same ancestor to form modern Hanwoo breed.