Occurrence of Intracranial Hemorrhage and Associated Risk Factors in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: A Systematic Review and Meta-Analysis

Qilun Lai,Yinxi Zhang,Jun-Jun Wang,Ye-Jia Mo,Li-Ying Zhuang,Lin Cheng,Shi-Ting Weng,Song Qiao,Lu Liu 대한신경과학회 2022 Journal of Clinical Neurology Vol.18 No.5

Background and Purpose Intracranial hemorrhage (ICH) is thought to be a rare but probably underestimated presentation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We conducted a systematic review and meta-analysis with the aim of comprehensively revealing the occurrence of ICH in patients with CADASIL. Methods English-language studies published up to September 30, 2021 were searched for in the MEDLINE (PubMed), Web of Science, and Cochrane Library databases. The design, patient characteristics, occurrence rate of ICH, and associated risk factors were retrieved for each identified relevant study. Results We enrolled 13 studies in the final meta-analysis, which included 1,310 patients with CADASIL. The probability of ICH occurrence in patients with CADASIL was 10.1% (95% confidence interval [CI]=5.6%–18.0%, I2 =85.1%). When stratified by geographic region, the occurrence rate of ICH was much higher in Asians (17.7%; 95% CI=11.0%–28.5%, I2 =76.3%) than in Europeans (2.0%; 95% CI=0.4%–10.8%, I2 =82.8%). A higher burden of cerebral microbleeds (CMBs) and a history of hypertension were the most commonly recorded risk factors for ICH, which were available for three and two of the included studies, respectively. Conclusions Our study suggests that ICH is an important clinical manifestation of CADASIL, especially in Asians. A higher burden of CMBs and the existence of hypertension were found to be associated with a higher probability of ICH occurrence in patients with CADASIL.

RESEARCH : Open Access ; A synonymous mutation of uncoupling protein 2 (UCP2) gene is associated with growth performance, carcass characteristics and meat quality in rabbits

( Wen-chao Liu ),( Song-jia Lai ) 한국동물자원과학회(구 한국축산학회) 2016 한국축산학회지 Vol.58 No.1

Background: Uncoupling proteins 2 (UCP2) plays an important role in energy regulation, previous studies suggested that UCP2 is an excellent candidate gene for human obesity and growth-related traits in cattle and chicks. The current study was designed to detect the genetic variation of UCP2 gene, and to explore the association between polymorphism of UCP2 gene and growth, carcass and meat quality traits in rabbits. Results: A synonymous mutation in exon 1 and four variants in the first intron of the UCP2 gene were identified by using PCR-sequencing. The synonymous mutation c.72G>A was subsequently genotyped by MassArray system (Sequenom iPLEXassay) in 248 samples from three meat rabbit breeds (94 Ira rabbits, 83 Champagne rabbits, and 71 Tianfu black rabbits). Association analysis suggested that the individuals with AA and AG genotypes showed greater 70 d body weight (P < 0.05), 84 d body weight (P < 0.01), ADG from 28 to 84 days of age (P < 0.05), eviscerated weight (P < 0.01), semi-eviscerated weight (P < 0.01) and semi-eviscerated slaughter percentage (P < 0.05), respectively. Additionally, the individuals with AA and AG genotype had a lower pH value of longissimus muscle (P < 0.01) and hind leg muscle (P < 0.05) after slaughter 24 h. Conclusions: These findings indicated that UCP2 could be a candidate gene that associated with growth performance, body composition and meat quality in rabbits, and this would contribute to advancements in meat rabbit breeding practice.

Effects of Variants in Proopiomelanocortin and Neuropeptide Y Genes on Growth, Carcass, and Meat Quality Traits in Rabbits

Liu, Wen-Chao,Chen, Shi-Yi,Jia, Xian-Bo,Wang, Jie,Lai, Song-Jia Asian Australasian Association of Animal Productio 2014 Animal Bioscience Vol.27 No.5

Appetite-related neuropeptides proopiomelanocortin (POMC) and Neuropeptide Y (NPY) are essential for regulating feeding behavior and energy homeostasis. The objective of this study was to evaluate the effects of variants in POMC and NPY genes on growth, carcass and meat quality traits in rabbits. A total of six SNPs were identified for POMC (n = 2) and NPY (n = 4) genes by direct sequencing. Three SNPs were subsequently genotyped by using MassArray system (Sequenom iPLEXassay) in 235 individuals, which belong to three meat rabbit breeds, including 93 Ira rabbits; 81 Champagne rabbits and 61 Tianfu black rabbits. The SNP c.112-12G>T was in intron-exon boundaries (intron 1) of POMC gene, and the association analysis showed that individuals with TT genotype had a greater 84 d body weight (BW84), eviscerated weight and semi-eviscerated weight than those with GT genotype (p<0.05); the TT individuals were also higher than those GG in the ripe meat ratio (RMR) (p<0.05). The g.1778G>C SNP, which was in complete linkage with other three SNPs (g.1491G>A, g.1525G>T and g.1530C>T) in intron 1 of NPY gene, was significantly correlated with eviscerated slaughter percentage and semi-eviscerated slaughter percentage in rabbits, and the individuals with CC genotype had a better performance than CG genotype (p<0.05). These findings would provide primary clues for the biological roles of POMC and NPY underlying the rabbit growth-related traits.

Polymorphism of NLRP3 Gene and Association with Susceptibility to Digestive Disorders in Rabbit

Yang, Yu,Zhang, Gong-Wei,Chen, Shi-Yi,Peng, Jin,Lai, Song-Jia Asian Australasian Association of Animal Productio 2013 Animal Bioscience Vol.26 No.4

NLR family pyrin domain containing 3 (NLRP3) is a key component of the inflammasome, whose assembly is a crucial part of the innate immune response. The aim of the present study was to evaluate the association between exon 3 polymorphisms of NLRP3 and the susceptibility to digestive disorders in rabbits. In total, five coding single-nucleotide polymorphisms (cSNPs) were identified; all of which are synonymous. Among them, c.456 C> and c.594 G> were further genotyped for association analysis based on case-control design (n =162 vs n =102). Meanwhile, growing rabbits were experimentally induced to digestive disorders by feeding a fiber-deficient diet, subsequently they were subjected to mRNA expression analysis. Association analysis revealed that haplotype H1 (the two cSNPs: GT) played a potential protective role against digestive disorders (p<0.001). The expression of NLRP3 in the group $H1HX_1$ ($H1HX_1$ is composed of H1H1, H1H3 and H1H4) was the lowest among four groups which were classified by different types of diplotypes. Those results suggested that the NLRP3 gene was significantly associated with susceptibility to digestive disorders in rabbit.

Characterization of Vaginal Microbiota Associated with Pregnancy Outcomes of Artificial Insemination in Dairy Cows

Shi-Yi Chen,Feilong Deng,Ming Zhang,Xian-Bo Jia,Song-Jia Lai 한국미생물·생명공학회 2020 Journal of microbiology and biotechnology Vol.30 No.6

The profitability of the dairy and beef industries is largely affected by the actually achieved reproductive efficiency. Although a large proportion of cows worldwide are bred by artificial insemination (AI) services, many potential factors affecting the outcome of pregnancy by AI remain to be addressed. In the present study, we investigated the vaginal microbiota by high-throughput sequencing of 16S rRNA gene and analyzed their association with differential pregnancy outcomes (i.e., pregnant vs. nonpregnant) of multiple AI services in dairy cows. Sequencing of the V3-V4 region totally produced 512,046 high-quality sequences that were computationally clustered into 2,584 operational taxonomic units (OTUs). All OTUs were taxonomically assigned to 10 bacterial phyla. There were statistically significant differences among the three AI service times (T1, T2 and T3) with respect to the Shannon index and number of observed OTUs (p < 0.05). Bray-Curtis distance-based PCoA analysis also revealed that T2 group could be significantly distinguished from T1 and T3. However, no significant difference between the pregnant and nonpregnant cows was found in confidence regarding both alpha diversity and beta diversity. These results could help us better understand the possible influence of vaginal microbial community on pregnancy outcomes of AI service in cows.

Comparison of Carcass and Meat Quality Traits among Three Rabbit Breeds

Jie Wang,Yuan Su,Mauricio A. Elzo,Xian-Bo Jia,Shi-Yi Chen,Song-Jia Lai 한국축산식품학회 2016 한국축산식품학회지 Vol.36 No.1

The objective of this study was to compare carcass composition and meat quality traits in the longissimus dorsi and biceps femoris muscles in the Hyla, Champagne and Tianfu Black rabbit breeds. Tianfu Black rabbits had the heaviest head, skin, thoracic viscera and commercial carcass percentage (p<0.05). In addition, Tianfu Black had the highest pH0 h value, followed by the Champagne and Hyla breeds (p<0.01) in the longissimus dorsi and biceps femoris muscles. Tianfu Black had a higher a* (0 h and 24 h) than the other two breeds in both longissimus dorsi and biceps femoris muscles (p<0.05). The Hyla, Champagne, and Tianfu Black breeds showed a similar pattern of differences for meat quality traits (pH, L*, a* and b*) measured in fresh meat (0 h) and meat stored for 24 h. Hyla had the highest IMF values of the three breeds (p<0.01). The lower intramuscular fat of Tianfu Black and Champagne rabbits gives them an advantage over Hyla rabbits among most consumers seeking lean rabbit meat.

Rapid Genotyping of MSTN Gene Polymorphism Using High-resolution Melting for Association Study in Rabbits

Peng, Jin,Zhang, Gong-Wei,Zhang, Wen-Xiu,Liu, Yun-Fu,Yang, Yu,Lai, Song-Jia Asian Australasian Association of Animal Productio 2013 Animal Bioscience Vol.26 No.1

The myostatin (MSTN) gene, as a negative regulator of skeletal muscle growth, has been proposed to be associated with production traits in farm animals. In the present study, a T/C variant at -125 bp (relative to ATG start codon) of 5'regulatory region of rabbit MSTN was identified by direct sequencing. Two hundred and twenty two rabbits, which were randomly sampled from 3 breeds (Ira rabbits, Champagne rabbits and Tianfu black rabbits), were genotyped by high-resolution melting (HRM). Comparing the genotyping results of 47 samples with direct sequencing, the HRM showed high sensitivity (0.96) and high specificity (0.98). In the three rabbit breeds, the allele C was the predominant allele. The polymorphic site showed high heterozygosity (He = 0.48) and high effective number of alleles (Ne = 1.91). The genetic diversity was reasonably informative (0.25<PIC<0.50). The association analysis showed that the genotype TC had significant effect on the 84-d-weight of rabbits compared with genotype CC (p = 0.047). In contrast, the genotypes had no significant effect on other production traits. These results showed that HRM could be effectively used for genotyping analysis of MSTN gene. The T/C variant in 5'regulatory region of MSTN might be one of the candidate SNP loci affecting the trait of 84-d-weight.

Single Nucleotide Polymorphisms of NLRP12 Gene and Association with Non-specific Digestive Disorder in Rabbit

Liu, Yun-Fu,Zhang, Gong-Wei,Xiao, Zheng-Long,Yang, Yu,Deng, Xiao-Song,Chen, Shi-Yi,Wang, Jie,Lai, Song-Jia Asian Australasian Association of Animal Productio 2013 Animal Bioscience Vol.26 No.8

The NLRP12 (NLR family, pyrin domain containing 12) serves as a suppressor factor in the inflammatory response and protects the host against inflammation-induced damage. In the present study, we aimed to study the polymorphisms of NLRP12 gene and its association with susceptibility to non-specific digestive disorder (NSDD) in rabbits. We re-sequenced the entire coding region of the rabbit NLRP12 gene and detected a total of 19 SNPs containing 14 synonymous and five non-synonymous variations. Among them, the coding SNP (c.1682A>G), which would carry a potential functional implication, was subsequently subjected to genotyping for case-control association study (272 cases and 267 controls). The results revealed that allele A was significantly protective against NSDD with an odds ratio value of 0.884 (95% confidence interval, 0.788 to 0.993; p = 0.038). We also experimentally induced NSDD in growing rabbits by feeding a fibre-deficient diet and subsequently investigated NLRP12 mRNA expression. The mRNA expression of NLRP12 in healthy status was significantly higher than that in severe NSDD (p = 0.0016). The highest expression was observed in individuals carrying the protective genotype AA (p = 0.0108). These results suggested that NLRP12 was significantly associated with the NSDD in rabbits. However, the precise molecular mechanism of NLRP12 involving in the development of rabbit NSDD requires further research.

Identification and Association of SNPs in TBC1D1 Gene with Growth Traits in Two Rabbit Breeds

Yang, Zhi-Juan,Fu, Lu,Zhang, Gong-Wei,Yang, Yu,Chen, Shi-Yi,Wang, Jie,Lai, Song-Jia Asian Australasian Association of Animal Productio 2013 Animal Bioscience Vol.26 No.11

The TBC1D1 plays a key role in body energy homeostasis by regulating the insulin-stimulated glucose uptake in skeletal muscle. The present study aimed to identify the association between genetic polymorphisms of TBC1D1 and body weight (BW) in rabbits. Among the total of 12 SNPs detected in all 20 exons, only one SNP was non-synonymous (c.214G>A. p.G72R) located in exon 1. c.214G>A was subsequently genotyped among 491 individuals from two rabbit breeds by the high-resolution melting method. Allele A was the predominant allele with frequencies of 0.7780 and 0.6678 in European white rabbit (EWR, n = 205) and New Zealand White rabbit (NZW, n = 286), respectively. The moderate polymorphism information content (0.25<PIC<0.50) was present in both breeds. The association analysis revealed that genotypes GA and AA had higher 35 d body weight (BW) than genotype GG in both EWR (p<0.01) and NEW (p<0.05). For the 56 d BW and 70 d BW traits, genotypes AA and GA were higher than genotype GG in both two breeds, the difference was not significant (p>0.05). Our results implied that the c.214G>A of TBC1D1 gene might be one of the candidate loci affecting the trait of 35 d BW in the rabbit.