The gene for solute carrier family 12 member A8 has recently been proposed as a candidate gene for psoriasis susceptibility (PSORS5) on chromosome 3q based on association of five single nucleotide polymorphisms (SNP) ...The gene for solute carrier family 12 member A8 has recently been proposed as a candidate gene for psoriasis susceptibility (PSORS5) on chromosome 3q based on association of five single nucleotide polymorphisms (SNP) in Swedish patients. To investigate whether this locus is relevant for German psoriasis vulgaris (PsV) patients, we analyzed a group of 210 trios and a case-control group including 375 patients. Based on our investigation of the linkage disequilibrium (LD) structure of SLC12A8, we assayed 35 haplotype tag SNP and grouped them into nine LD-blocks. In the case-control study, we detected an association for six SNP and three LD-based haplotypes. Association was strongest for ss35527511 (χ 2 = 11.224, p = 0.0008) and haplotype E-2 (χ 2 = 11.788, p = 0.00059) and independent of the presence of an HLA-associated risk allele. Through extended haplotype analysis, we could show that two independent association signals exist in SLC12A8, suggesting allelic heterogeneity. None of the SNP showed association in trios, apart from a weak association of rs2228674 (transmission disequilibrium test statistics p = 0.048), probably due to insufficient power. We conclude that SLC12A8 is a susceptibility locus for PsV. In order to establish the exact nature of this association, efforts to identify the disease-causing variants are ongoing.展开更多
本研究旨在分析鸡蛋蛋形指数变化规律,并探究影响该性状的候选基因,为其分子标记辅助选择提供参考依据。本实验利用由东乡绿壳蛋鸡和白来航蛋鸡构建的F2代母鸡为素材,测定开产、32、36、40、44、48、52、56、60、66、72周龄鸡蛋蛋形指数...本研究旨在分析鸡蛋蛋形指数变化规律,并探究影响该性状的候选基因,为其分子标记辅助选择提供参考依据。本实验利用由东乡绿壳蛋鸡和白来航蛋鸡构建的F2代母鸡为素材,测定开产、32、36、40、44、48、52、56、60、66、72周龄鸡蛋蛋形指数,分析其变化规律及遗传参数指标;同时提取基因组DNA,利用600 K基因芯片进行全基因组关联分析(Genome-wide Association Study, GWAS)。结果发现,周龄越大蛋形指数变异系数越大;各周龄蛋形指数遗传力在0.19~0.37之间,32~72周龄间蛋形指数的遗传相关在0.8以上,表型相关在0.4以上;在32、44、48周龄鉴定到与蛋形指数显著或潜在关联SNP位点8个,分别位于1、3、4号染色体上;多变量GWAS分析鉴定到在1、2、4号和17号染色体上SNP位点25个与蛋形指数潜在关联,筛选到ZDHHC2、SCG2、COG5和GPR107等候选基因;其中以位于4号染色体ADHHC2基因内含子区域的rs317038353位点对蛋形指数影响最大。综上,蛋形指数为中低遗传力,受微效多基因影响,其中ADHHC2为重要候选基因,研究结果为蛋形指数选择提供新的思路。展开更多
文摘The gene for solute carrier family 12 member A8 has recently been proposed as a candidate gene for psoriasis susceptibility (PSORS5) on chromosome 3q based on association of five single nucleotide polymorphisms (SNP) in Swedish patients. To investigate whether this locus is relevant for German psoriasis vulgaris (PsV) patients, we analyzed a group of 210 trios and a case-control group including 375 patients. Based on our investigation of the linkage disequilibrium (LD) structure of SLC12A8, we assayed 35 haplotype tag SNP and grouped them into nine LD-blocks. In the case-control study, we detected an association for six SNP and three LD-based haplotypes. Association was strongest for ss35527511 (χ 2 = 11.224, p = 0.0008) and haplotype E-2 (χ 2 = 11.788, p = 0.00059) and independent of the presence of an HLA-associated risk allele. Through extended haplotype analysis, we could show that two independent association signals exist in SLC12A8, suggesting allelic heterogeneity. None of the SNP showed association in trios, apart from a weak association of rs2228674 (transmission disequilibrium test statistics p = 0.048), probably due to insufficient power. We conclude that SLC12A8 is a susceptibility locus for PsV. In order to establish the exact nature of this association, efforts to identify the disease-causing variants are ongoing.
文摘本研究旨在分析鸡蛋蛋形指数变化规律,并探究影响该性状的候选基因,为其分子标记辅助选择提供参考依据。本实验利用由东乡绿壳蛋鸡和白来航蛋鸡构建的F2代母鸡为素材,测定开产、32、36、40、44、48、52、56、60、66、72周龄鸡蛋蛋形指数,分析其变化规律及遗传参数指标;同时提取基因组DNA,利用600 K基因芯片进行全基因组关联分析(Genome-wide Association Study, GWAS)。结果发现,周龄越大蛋形指数变异系数越大;各周龄蛋形指数遗传力在0.19~0.37之间,32~72周龄间蛋形指数的遗传相关在0.8以上,表型相关在0.4以上;在32、44、48周龄鉴定到与蛋形指数显著或潜在关联SNP位点8个,分别位于1、3、4号染色体上;多变量GWAS分析鉴定到在1、2、4号和17号染色体上SNP位点25个与蛋形指数潜在关联,筛选到ZDHHC2、SCG2、COG5和GPR107等候选基因;其中以位于4号染色体ADHHC2基因内含子区域的rs317038353位点对蛋形指数影响最大。综上,蛋形指数为中低遗传力,受微效多基因影响,其中ADHHC2为重要候选基因,研究结果为蛋形指数选择提供新的思路。
