RUNX3、SLC22A4和PPAR-γ的基因多态性与溃疡性结肠炎的关系

目的:探讨RUNX3(rs2236851,A→G)、SLC22A4(rs3792876,C→T)和PPAR-γ(rs3892175,A→G)基因的单核苷酸多态性(Single Nucleotide Polymorphism,SNP)与溃疡性结肠炎(ulcerative colitis,UC)遗传易感性之间的关系.方法:选取经过临床表现、内镜、病理等方法共同确诊的UC患者81例,健康对照组154例,提取患者的全血基因组DNA,用聚合酶链反应序列特异性引物(PCR-SSP)的方法,检测UC患者、SLC22A4和PPAR-γ的基因型分布,并与健康对照组进行比较.结果:RUNX3的rs2236851位点的多态性与UC紧密相关(P<0.05);而SLC22A4的rs3792876位点与PPAR-γ的rs3892175位点的基因型分布与对照组相比.其差异无统计学意义(P>0.05).结论:RUNX3的rs2236851位点的基因多态性为溃疡性结肠炎的遗传易感因素,而SLC22A4的rs3792876位点与PPAR-γ的rs3892175位点的基因多态性与溃疡性结肠炎的遗传易感性无关.     

TLR4基因rs10983755位点单核苷酸多态性与非小细胞肺癌易感性的相关性研究

目的:探讨TLR4基因rs10983755 A/G单核苷酸多态性(SNP)与非小细胞肺癌(NSCLC)易感性的相关性。方法:采用病例-对照研究方法纳入160例非小细胞肺癌患者(NSCLC组)和160例健康对照(NC组),利用MassARRAY飞行时间质谱生物芯片系统对TLR4基因rs10983755位点的单核苷酸多态性进行分型检测,并进行统计学分析。结果:rs10983755等位基因频率在中国汉族NSCLC患者和健康人群中的分布差异具有统计学意义(P0.05),A等位基因携带者NSCLC发生风险是G等位基因携带者的1.821倍(95%CI=1.124~2.906);rs10983755基因型频率在NSCLC患者和健康人群中分布差异具有统计学意义(P0.05),AA+AG基因型NSCLC发生风险是GG基因型的2.103倍(95%CI=1.118~3.898)。结论:TLR4基因rs10983755 A/G单核苷酸多态性与NSCLC的易感性显著相关,A是风险等位基因。     

共济失调蛋白2结合蛋白1基因多态性与奥氮平所致体重增加的关联研究

目的:既往研究表明,共济失调蛋白2结合蛋白1(A2BP1)基因多态性可能与精神分裂症、孤独症及肥胖等复杂疾病关联,但目前尚无相关文献提示A2BP1基因多态性与抗精神病药所致体重增加的关联.本研究拟探讨A2BP1基因多态性与奥氮平治疗精神分裂症所致体重增加的关联.方法:本研究共入组350例精神分裂症患者,其中完成奥氮平(治疗剂量5～20 mg/d)治疗8周者为328例.采用阳性与阴性症状量表(PANSS)减分率评估药物疗效;分别于治疗前和治疗8周后测量并记录患者的清晨空腹体重并计算治疗前后体重增加率(％).提取患者外周血DNA,采用DNA测序基因分析方法,在328例汉族精神分裂症患者中,检测A2BP1基因4个单核苷酸多态性(SNP)位点(rs8048076,rs1478697,rs10500331,rs4786847)的基因型,并采用数量性状位点分析方法(QTL)探索A2BP1基因多态性与奥氮平治疗所致体重增加率的关联.结果:A2BP1基因rs8048076 (T=3.237;P=0.0012)及rs1478697 (T=2.956;P=0.0032)位点与奥氮平治疗精神分裂症8周后所致体重增加率关联(P＜0.05),经多重检验Bonferroni校正后仍有统计学意义;而rs10500331 (T=-0.293;P=0.769)与rs4786847(T=0.666; P=-0.505)在本样本中与奥氮平所致体重增加的关联无统计学意义(P＞0.05).结论:本研究结果提示在中国汉族人群中,A2BP1基因多态性可能与奥氮平治疗精神分裂症患者所致体重增加副反应关联,如能进一步验证及机制探索,则有望在精神科个体化治疗方面对药物所致体重增加的预测与防治提供线索依据.     

葡萄糖转运体9(GLUT9)基因启动子区的rs13124007(G/C)及rs6850166(G/A)位点的单核苷酸多态性(SNP)与汉族女性痛风相关性研究

目的:探讨葡萄糖转运体9(GLUT9)基因启动子区的rs13124007(C/G)及rs6850166(A/G)位点的单核苷酸多态性(SNP)与中国汉族女性人群痛风易感性之间的相关性.方法:选取185例痛风患者和300例正常对照者,提取基因组DNA,采用聚合酶链式反应(PCR技术),特异性扩增GLUT9基因所需要的目的片段,对扩增的目的片段进行测序后,比较痛风组和正常对照组的基因型频率及等位基因频率分布情况.结果:女性痛风组中GLUT9基因的启动子区rs13124007和rs6805116两个位点的基因型频率分布与正常对照组相比,统计学上无明显的差异(X2=0.906,P=0.636;X2=3.335,P=0.189),rs13124007 SNP位点的C等位基因频率和rs6850166SNP位点的A的等位基因频率与正常对照组相比也无明显的统计学差异(X2=0.506,P=0.477;X=3.268,P=0.071).结论:葡萄糖转运体9(GLUT9)基因启动子区的rs 13124007(C/G)及rs6850166(A/G)位点的单核苷酸多态性(SNP)与中国汉族女性人群痛风易感性无明显的相关性.     

雌激素受体α(ESR1)基因PvuⅡ和XbaⅠ位点基因多态性与HBV慢性感染的相关性研究

目的:探讨雌激素受体ESR1(Estrogen Receptor alpha gene)基因的PvuⅡ(rs2234693)和XbaⅠ (rs9340799)两个单核苷酸多态性(single nucleotide polymorphisms, SNPs)位点的基因多态性与乙型肝炎病毒HBV(Hepatitis B Virus)慢性感染的相关性,为控制HBV持续感染提供新的思路和科学依据。方法:选择107例慢性乙型病毒性肝炎患者为病例组及107例同期体检的健康人群为对照组,基于高分辨熔解曲线技术(High Resolution Melting,HRM)建立PCR-HRM分子诊断方法,检测其雌激素受体ESR1基因两个SNP位点rs2234693(TC)和rs9340799(AG)的基因多态性,并通过基因测序进一步验证,探讨上述两个SNP位点与HBV慢性感染的相关性。结果:病例组和健康对照组ESR1基因rs2234693(TC)位点的基因型频率比较差异具有统计学意义(P0.05),而两组间rs2234693位点等位基因频率比较差异没有统计学意义(P0.05);病例组和健康对照组间ESR1基因rs9340799(AG)位点的各基因型频率差异具有统计学意义(P0.05),慢性乙肝病例组GG基因型明显升高,两组间rs9340799位点等位基因频率差异亦具有统计学意义(P0.05)。Logistic回归分析显示rs9340799位点的G基因可增加HBV慢性感染的发病风险,A基因可降低HBV慢性感染的发病风险。结论:雌激素受体基因ESR1的rs9340799 (AG)位点的GG基因型和G等位基因可能是HBV感染慢性化的遗传易感基因,GG基因型与HBV的慢性感染具有一定的相关性。     

新疆维汉民族多囊卵巢综合征患者CYP17基因多态性及与发病机制的关系

目的:探讨细胞色素P450酶17(CYP17)基因多态性及其与多囊卵巢综合征(PCOS)发病机制的关系。方法:选择2015年1月~2017年2月我院收治的新疆维汉民族PCOS患者260例为PCOS组,另选取同期在我院门诊检查的健康育龄妇女237例为对照组,采用限制性片段长度多态性聚合酶链反应(PCR-RFLP)技术检测两组受试者的CYP17基因多态性,比较两组等位基因及基因频率的分布,结合其临床资料分析CYP17基因多态性与PCOS发病机制的关系。结果:PCOS组体质量指数(BMI)、卵泡刺激素(FSH)水平低于对照组,黄体生成激素(LH)、睾酮(TES)及黄体生成激素与卵泡刺激素的比值(LH/FSH)高于对照组,差异有统计学意义(P0.05)。PCOS组CYP17基因A1A1、A1A2、A2A2型频率分别为34.62%、41.92%、23.46%,与对照组的34.18%、43.88%、21.94%比较差异无统计学意义(P0.05);PCOS组等位基因A1、A2频率为55.58%、44.42%,与对照组的56.12%、43.88%比较差异无统计学意义(P0.05);PCOS组不同CYP17基因型者的FSH、LH及LH/FSH水平整体比较差异无统计学意义(P0.05);PCOS组BMI水平A2A2A1A2A1A1,TES水平A2A2A1A1A1A2,差异均有统计学意义(均P0.05);对照组不同CYP17基因型者的BMI、FSH、LH、TES及LH/FSH水平整体比较差异均无统计学意义(P0.05)。结论:CYP17基因-34bp处T/C单核苷酸多态性是人群中一种常见的碱基置换,与PCOS的发病机制无明显的相关性。     

ORMDL3基因多态性与哮喘的相关性

哮喘是一种非常复杂的表型异质性疾病,是受遗传和环境因素双重影响的多基因遗传病,通过全基因组关联研究显示,1 7号染色体ORMDL3基因是迄今为止发现的与哮喘关联最有充分证据的基因,而SNP(rs7216389)是哮喘最显著的相关标记。本综述将概述ORMDL3基因、ORMDL3基因产物功能、ORMDL3基因多态性与哮喘的相关性,及哮喘主要相关位点SNP(rs7216389)和SNP(rs1051740)等方面的研究成果。     

CNR1、GAD1和BDNF基因多态性与云南傣族男性海洛因依赖的相关性分析

为了探讨大麻素受体1基因(Cannabinoid receptor 1,CNR1)3个SNP位点(rs6454674、rs1049353和rs806368)、谷氨酸脱羧酶1基因(Glutamate decarboxylase 1,GAD1)3个SNP位点(rs1978340、rs3791878和rs11542313)、脑源性神经营养因子基因(Brain-derived neurotrophic factor,BDNF)2个SNP位点(rs6265和rs13306221)与云南傣族男性海洛因依赖的相关性,文章采用病例对照关联分析,建立8-SNPs复合扩增体系,应用SNaPshot方法检测165例傣族男性海洛因依赖患者和170例健康傣族男性CNR1、GAD1和BDNF基因8个SNPs位点基因型,采用SPSS17.0、Haploview4.2、PHASE2.1和MDR软件进行统计学分析。结果显示,rs13306221基因型频率在海洛因依赖组和对照组中的差异具有统计学意义(P<0.025),海洛因依赖组rs6265 A等位基因显著高于对照组(P<0.05),由rs1978340-rs3791878-rs11542313构建的T-A-C、C-C-C、C-C-T和T-C-C单体型及rs6265-rs13306221构建的A-G单体型频率在海洛因依赖组及对照组中差异具有统计学意义(P<0.05),海洛因依赖组T-A-C、C-C-T和A-G单体型频率明显高于对照组,GAD1基因rs1978340与rs3791878之间可能存在强协同的交互作用。结果表明,CNR1基因rs1049353多态性、GAD1基因rs1978340和rs11542313多态性以及BDNF基因rs6265和rs13306221多态性与云南傣族男性海洛因依赖相关联,并且携带rs6265 A等位基因的个体可能更容易对海洛因产生依赖。     

中国老年心脑血管疾病患者阿司匹林抵抗与环氧化酶-1单体型关联分析

目的:旨在研究老年心脑血管病患者阿司匹林抵抗与阿司匹林作用靶点环氧化酶-1(COX-1)基因单体型的关联性。方法:入选北京地区服用阿司匹林的老年汉族心脑血管疾病患者431例,通过花生四烯酸诱导光比浊法,筛选出阿司匹林抵抗患者59例作为病例组,372例阿司匹林不抵抗者作为对照组,使用美国Sequenom系统SNP分型技术鉴定了COX-1基因6个常见单核苷酸多态性位点(SNP)与阿司匹林抵抗的关联性。6个SNP分别是:rs1888943(8759C/T)、rs1330344(1676A/G)、rs3842787(exon 2,50C/T,p.Pro17Leu)、rs5787(exon 4,323G/A,p.Arg108Gln)、rs5789(exon7,709C/A,p.Leu237Met)和rs5794(exon10,1330G/A,p.Val481Ile)。结果:突变COX-1单体型CGCGCC,在病例组频率为0.48(57/118),对照组频率为0.39(286/742),显著高于对照组(P≤0.05)。结论:中国老年汉族心脑血管疾病患者阿司匹林抵抗与COX-1单体型相关联,突变COX-1单体型CGCGCC显著增加了阿司匹林抵抗的发病风险。     

雌激素受体α(ESR1)基因PvuⅡ和XbaI位点基因多态性与HBV慢性感染的相关性研究

摘要 目的：探讨雌激素受体ESR1(Estrogen Receptor alpha gene)基因的PvuⅡ(rs2234693)和XbaI (rs9340799)两个单核苷酸多态性(single nucleotide polymorphisms, SNPs)位点的基因多态性与乙型肝炎病毒HBV(Hepatitis B Virus)慢性感染的相关性,为控制HBV持续感染提供新的思路和科学依据。方法：选择107例慢性乙型病毒性肝炎患者为病例组及107例同期体检的健康人群为对照组,基于高分辨熔解曲线技术(High Resolution Melting,HRM)建立PCR-HRM分子诊断方法,检测其雌激素受体ESR1基因两个SNP位点rs2234693(T>C)和rs9340799(A>G)的基因多态性,并通过基因测序进一步验证,探讨上述两个SNP位点与HBV慢性感染的相关性。结果：病例组和健康对照组ESR1基因rs2234693(T>C)位点的基因型频率比较差异具有统计学意义(P<0.05),而两组间rs2234693位点等位基因频率比较差异没有统计学意义(P>0.05);病例组和健康对照组间ESR1基因rs9340799(A>G)位点的各基因型频率差异具有统计学意义(P<0.05),慢性乙肝病例组GG基因型明显升高,两组间rs9340799位点等位基因频率差异亦具有统计学意义(P<0.05)。Logistic回归分析显示rs9340799位点的G基因可增加HBV慢性感染的发病风险,A基因可降低HBV慢性感染的发病风险。结论：雌激素受体基因ESR1的rs9340799 (A>G)位点的GG基因型和G等位基因可能是HBV感染慢性化的遗传易感基因,GG基因型与HBV的慢性感染具有一定的相关性。     

牙鲆MyoD基因单核苷酸多态性位点的筛选

运用PCR-SSCP技术研究100尾牙鲆(Paralichthys olivaceus)MyoD基因的单核苷酸多态性(Single nucleotide polymorphisms, SNPs), 并将筛选到的突变位点与牙鲆生长性状进行相关性分析。结果表明, 在外显子1和内含子1上存在3个SNPs, 在外显子1 (MyoD2)基因座发现3种基因型AA、AB和BB, G863A突变, 属于同义突变。在内含子MyoD4基因座检测到DD、FF、CD、CE、DE和DF型个体。利用最小二乘法研究MyoD基因多态性位点对牙鲆生长性状的影响。结果表明, 外显子1的SNPs对生长性状无显著影响(P0.05)。内含子1的SNPs对牙鲆的生长性状影响均显著(P0.05)。研究结果为SNPs位点与牙鲆生长性能关联分析奠定了基础。       

Association between polymorphisms of the CYP11A1 gene and polycystic ovary syndrome in Chinese women

The cholesterol side chain cleavage enzyme (CYP11A1) gene plays an important part in the synthesis of sex hormones and has been reported to be involved in the pathogenesis of polycystic ovary syndrome. A case-control study including 314 PCOS patients and 314 controls was conducted to assess the association of the SNPs rs4077582 and rs11632698 in CYP11A1 with PCOS using the polymerase chain reaction-restriction fragment length polymorphism method. Thereafter, 100 DNA samples were re-genotyped by direct sequencing for confirmation. The genotypic distribution of rs4077582 in women with PCOS differed from that in controls (P = 0.002). No such distributional difference was found in rs11632698 (P = 0.912). Data from our previous study of these two SNPs in another population including 290 PCOS patients and 344 controls was combined with the current data. Combined analysis (a total of 1262 participants, including 604 PCOS patients and 658 control women) showed a much more significant difference in the genotypic distribution of rs4077582 between PCOS and controls (P < 0.001). The T allele was more prevalent in PCOS patients (Odds ratio = 1.314; 95 % CI 1.122-1.540). The testosterone levels among the three genotypes for rs4077582 were different in the control group, as were the LH levels and the LH/FSH ratio. Therefore, SNP rs4077582 in CYP11A1 is strongly associated with susceptibility to PCOS and may alter the testosterone levels by the regulation of LH in different genotypes. No association was observed in rs11632698.     

Study of selected genes of Wnt signaling pathway in relation to the parameters in the bone tissue of the laying hens

The Wnt signaling pathway plays a critical role in almost all aspects of skeletal development and homeostasis. Many studies suggest the importance of this signaling pathway in connection with bone metabolism through many skeletal disorders caused by mutations in Wnt signaling genes. The knowledge gained through targeting this pathway is of great value for skeletal health and diseases, for example of increased bone mass in the case of osteoporosis. Our objective was to focus on the detection of single nucleotide polymorphisms and investigate the associations between possible polymorphisms in selected genes that are part of those signaling pathways and parameters of bones in hens of ISA Brown hybrids (bone breaking strength, length, width, and bone mass). Different regions of the GPR177, ESR1 and RUNX2 genes were studied, using PCR and sequencing, in a total of forty-eight samples for each marker. Thirteen polymorphisms have been discovered in selected regions of studied genes, whereas these polymorphisms were only within the GPR177 gene. Eight of these polymorphisms were synonymous and five were in the intron. The tested regions of the ESR1 and RUNX2 genes were monomorphic. The only statistically significant difference was found within the GPR177 gene (exon 2) and the bone length parameter, in the c.443 + 86G > A polymorphism. However, this polymorphism was found in the intron, and no other one was found within the selected regions to show associations with the observed bone parameters.     

Influence of b2 adrenergic receptor polymorphism (rs1042713 and rs1042714) on anthropometric,hormonal and lipid profiles in polycystic ovarian syndrome

BackgroundPolycystic ovarian syndrome (PCOS) is a frequently encountered disorder. This study aimed to identify polymorphisms in ADRB2 in Saudi PCOS development and to study its influence on lipids, hormones, and anthropometric parameters.MethodsSaudi females (100) suffering from PCOS and healthy controls (100) were investigated. The estimation of cholesterol, triglycerides, high-density lipoprotein (HDL-C), low-density lipoprotein (LDL-C), plasma glucose, leptin Insulin, and ghrelin were carried out. The DNA was extracted, and ADRB2 fragment carrying the exon 1 was amplified and sequenced.ResultsThe waist, W/H ratio, lipids, glucose, and insulin were significantly higher in the obese PCOS compared to the normal weight group. The leptin and ghrelin were not different. Two single nucleotide polymorphisms (SNPs): rs1042713 (Arg16Gly; A>G) and rs1042714 (Gln27Glu; C>G) were identified. The genotype and allele frequency of rs1042713 did not differ in the total PCOS and normal weight, and obese PCOS compare to the controls. However, rs1042714 was significantly associated with PCOS development, where the minor G allele was protective against PCOS development.ConclusionsThe rs1042714 polymorphism of the ADRB associates with PCOS development in Saudis, while rs1042713 does not. However, the GG genotype of rs1042713 associates significantly with elevated BMI, waist, hip, W/H, and leptin, and decreased ghrelin. On the other hand, rs1042714 genotypes do not associate with any abnormality except the homozygous GG have higher triglycerides and lower HDL-C. Interestingly, glucose showed different correlation patterns in individuals carrying different genotypes of the two studied SNP, indicating clearly that the metabolic responses to a normal nutrient are significantly influenced by the genotypes of the SNPs in ADRB2.     

Autosomal dominant retinal dystrophy (Rdy) in Abyssinian cats: exclusion of PDE6G and ROM1 and likely exclusion of Rhodopsin as candidate genes

Retinal dystrophy (Rdy) is an autosomal dominant photoreceptor dysplasia of Abyssinian cats and a model for autosomal dominant retinitis pigmentosa (ADRP) in man. We have pursued a candidate gene approach in the search for the causal mutation in Rdy. The genes RHO (encoding rhodopsin), ROM1 (encoding the structural retinal outer-membrane protein-1) and PDE6G (encoding the gamma subunit of the visual transduction protein cyclic guanosine monophosphate-phosphodiesterase) were polymerase chain reaction-amplified from normal feline genomic DNA. Leader, coding and 3' untranslated regions of each gene, and parts of introns were sequenced. Single-stranded conformation polymorphism (SSCP) analysis of Rdy-affected and normal cats was used to identify intragenic polymorphisms within ROM1 and PDE6G. DNA sequencing of all three genes in Rdy-affected cats was used to confirm results from SSCP. For both ROM1 and PDE6G polymorphisms identified by SSCP and sequencing showed disconcordance between the polymorphism and the disease phenotype within an Rdy disease pedigree. SSCP analysis of RHO performed across the 5' untranslated region, the entire coding sequence and the intron/exon boundaries in Rdy-affected and control cats failed to identify any intragenic polymorphisms that could be used for linkage analysis. DNA sequencing of these regions showed no differences between Rdy-affected and control cats. Mutations in ROM1 or in PDE6G are not causative of feline Rdy. The absence of potentially pathogenic polymorphisms in sequenced portions of the RHO gene makes it unlikely that a mutation in this gene is the cause of Rdy.     

IDENTIFICATION OF THREE SNPs IN THE PORCINE MYOSTATIN GENE (MSTN)

ABSTRACT

Thirteen pairs of primers were designed for the entire porcine MSTN gene to enable PCR amplification for the detection of single nucleotide polymorphisms (SNPs) by a PCR-SSCP approach. Altogether 96.5% (1089/1128) of the encoding regions and 971?bp of the non-coding regions were screened. A total of three polymorphisms were identified with PCR-SSCP. They were located in the promoter, intron one and exon three regions of the gene. These polymorphisms were then confirmed to be point mutations (T→A transversion, G→A transition and C→T transition respectively) by sequencing. Allele frequencies were determined for all three SNPs in several different pig breed populations. The polymorphisms were found to be rare in Western breeds, but much more common in Chinese breeds. Whether they have any relationship with the marked difference in lean meat mass between Western and Chinese breeds requires further study.     

Polymorphisms in metallothionein-1 and -2 genes associated with the risk of type 2 diabetes mellitus and its complications

Metallothionein (MT) as a potent antioxidant can affect energy metabolism. The present study was undertaken to investigate the association between MT gene polymorphism and type 2 diabetes mellitus. Using the PCR-based restriction fragment length polymorphism method, seven single nucleotide polymorphisms (SNPs) in MT genes (rs8052394 and rs11076161 in MT1A gene, rs8052334, rs964372, and rs7191779 in MT1B gene, rs708274 in MT1E gene, and rs10636 in MT2A gene) were detected in 851 Chinese people of Han descent (397 diabetes and 454 controls). Several serum measurements were also examined randomly for 43 diabetic patients and 41 controls. The frequency distributions of the G allele in SNP rs8052394 of MT1A gene were significantly associated with the incidence of type 2 diabetes. There was no difference between patients and controls for the rest of six SNPs. Serum levels of interleukin-6 and tumor necrosis factor-alpha were higher, and serum superoxide dismutase activity was significantly lower in the diabetic group than those in the control group. For diabetic patients, serum superoxide dismutase activity was significantly lower in GG or GA carriers than those of AA carriers of rs8052394 SNP. Increased serum levels in diabetic patients were positively associated with rs964372 SNP, and type 2 diabetes with neuropathy was positively associated with rs10636 and rs11076161. These results suggest that multiple SNPs in MT genes are associated with diabetes and its clinical symptoms. Furthermore, MT1A gene in rs8052394 SNP is most likely the predisposition gene locus for diabetes or changes of serum superoxide dismutase activity.     

Novel SNPs of the Bovine PRLR Gene Associated with Milk Production Traits

The single nucleotide polymorphisms (SNPs) within exon 10 of the prolactin receptor gene (PRLR) were detected in Chinese Holstein cows using polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) and DNA sequencing methods, and their genetic effects on milk production traits were evaluated in this study. Two newly detected SNPs (g.9206G→A and g.9681C→T) caused amino acid variations E378K and A536V, respectively, which were then preliminarily predicted at the topological level. Statistical results indicated that the two SNPs were significantly associated with milk yields, and cows with the combined genotype GGCC showed superior milk performance. A putative phosphorylation site was identified at residue 378K ([ST]-×-[RK]), which offers a partial explanation for the associations. These results suggest that the two novel SNPs within exon 10 of the PRLR gene associated with milk production traits are useful genetic markers in a selection program for Holstein dairy cattle.     

Whole-Exome Sequencing for the Identification of Susceptibility Genes of Kashin–Beck Disease

Objective

To identify and investigate the susceptibility genes of Kashin–Beck disease (KBD) in Chinese population.

Methods

Whole-exome capturing and sequencing technology was used for the detection of genetic variations in 19 individuals from six families with high incidence of KBD. A total of 44 polymorphisms from 41 genes were genotyped from a total of 144 cases and 144 controls by using MassARRAY under the standard protocol from Sequenom. Association was applied on the data by using PLINK1.07.

Results

In the sequencing stage, each sample showed approximately 70-fold coverage, thus covering more than 99% of the target regions. Among the single nucleotide polymorphisms (SNPs) used in the transmission disequilibrium test, 108 had a p-value of <0.01, whereas 1056 had a p-value of <0.05. Kyoto Encyclopedia of Genes and Genomes(KEGG) pathway analysis indicates that these SNPs focus on three major pathways: regulation of actin cytoskeleton, focal adhesion, and metabolic pathways. In the validation stage, single locus effects revealed that two of these polymorphisms (rs7745040 and rs9275295) in the human leukocyte antigen (HLA)-DRB1 gene and one polymorphism (rs9473132) in CD2-associated protein (CD2AP) gene have a significant statistical association with KBD.

Conclusions

HLA-DRB1 and CD2AP gene were identified to be among the susceptibility genes of KBD, thus supporting the role of the autoimmune response in KBD and the possibility of shared etiology between osteoarthritis, rheumatoid arthritis, and KBD.     

Genetic Variants in SDC3 Gene are Significantly Associated with Growth Traits in Two Chinese Beef Cattle Breeds

Identification of the genes and polymorphisms underlying quantitative traits, and understanding these genes and polymorphisms affect economic growth traits, are important for successful marker-assisted selection and more efficient management strategies in commercial cattle (Bos taurus) population. Syndecan-3 (SDC3), a member of the syndecan family of type I transmembrane heparan sulfate proteoglycans is a novel regulator of feeding behavior and body weight. The aim of this study is to examine the association of the SDC3 polymorphism with growth traits in Chinese Jiaxian and Qinchuan cattle breeds (). Four single nucleotide polymorphisms (SNPs: 1–4) were detected in 555 cows from three Chinese native cattle breeds by means of sequencing pooled DNA samples and polymerase chain reaction-single stranded conformational polymorphism (PCR-SSCP) methods. We found one SNP (g.28362A > G) in intron and three SNPs (g.30742T > G, g.30821C > T and 33418 A > G) in exons. The statistical analyses indicated that these SNPs of SDC3 gene were associated with bovine body height, body length, chest circumference, and circumference of cannon bone (P < 0.05). The mutant-type variant was superior for growth traits; the heterozygote was associated with higher growth traits compared to wild-type homozygote. Our result confirms the polymorphisms in the SDC3 gene are associated with growth traits that may be used for marker-assisted selection in beef cattle breeding programs.