Hardy Weinberg

  • 文章类型: Journal Article
    当前的研究旨在调查印度北部人群中常见遗传风险变异与妊娠糖尿病(GDM)风险的关联,并评估其在识别GDM病例中的实用性。病例对照研究,包括300名孕妇,包括在内,收集临床和病理资料。扩增-难治性突变系统(ARMS)用于基因分型四个单核苷酸多态性(SNP),即FTO(RS9939609),PPARG2(rs1801282),SLC30A8(rs13266634),和TCF7L2(rs12255372)。在不同的遗传模型中确定每个SNP的比值比和置信区间。Further,可归因风险,人口外显率,还计算了相对风险。FTO的风险等位基因A(rs9939609)构成GDM的风险高两倍(p=0.02,OR=2.5)。PPARG2的CG和GG基因型(rs1801282)具有低一半的GDM风险。在SLC30A8(rs13266634)中,隐性模型分析显示患GDM的风险高两倍,而隐性模型(TTvs.TCF7L2(rs12255372)中的GG+GT)分析表明GDM的风险较低。最后,相对风险,人口外显率,在GDM母亲中,所有4种变异的风险等位基因归因风险均较高.发现所有四个多态性与BMI显着相关,HbA1c,和胰岛素。我们的研究首次证实了四种变异与GDM的显著关联,FTO,北印度人口中的PPARG2,SLC30A8和TCF7L2。
    The current study sought to investigate the associations of common genetic risk variants with gestational diabetes mellitus (GDM) risk in the north Indian population and to evaluate their utility in identifying GDM cases. A case-control study, including 300 pregnant women, was included, and clinical and pathological information was collected. The amplification-refractory mutation system (ARMS) was used for genotyping four single nucleotide polymorphisms (SNPs), namely FTO (rs9939609), PPARG2 (rs1801282), SLC30A8 (rs13266634), and TCF7L2 (rs12255372). The odds ratio and confidence interval were determined for each SNP in different genetic models. Further, attributable risk, population penetrance, and relative risk were also calculated. The risk allele A of FTO (rs9939609) poses a two times higher risk of GDM (p = 0.02, OR = 2.5). The CG and GG genotypes of PPARG2 (rs1801282) have half a lower risk of GDM. In SLC30A8 (rs13266634), the recessive model analysis showed a two times higher risk of having GDM, while the recessive model (TT vs. GG + GT) analysis in TCF7L2 (rs12255372) indicates a lower risk of GDM. Finally, the relative risk, population penetrance, and attributable risk for risk allele in all four variants was higher in GDM mothers. All four polymorphisms were found to be significantly associated with BMI, HbA1c, and insulin. Our study first time confirmed a significant association with GDM for four variants, FTO, PPARG2, SLC30A8, and TCF7L2, in the North Indian population.
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  • 文章类型: Journal Article
    哥斯达黎加帕索马(CPC)是在哥斯达黎加开发的品种。目的是估计遗传结构并评估种群的遗传变异性水平。分析了3654个记录(2052个女性和1602个男性)中14个微卫星的基因型。预期(He)和观察(Ho)杂合性,多态信息内容(CIP),固定指数(FIS),香农指数,以及Hardy-Weinberg不平衡(DHW)进行了评估。在整个人口中估计了亲属关系(Rij)。计算有效种群规模(Ne),交替等位基因频率小于0.05、0.02和0.01。进行贝叶斯聚类研究以从使用多个基因座的基因型分析中推断有多少品系是合适的。每个基因座的等位基因数在7到17之间,平均值为9.6;9个基因座呈现DHW(P<0.05);2个基因座呈现负FIS值,与Ho>He相同;CIP的平均值,Ho和He分别为0.254、0.756和0.785。在他>Ho的12个地点,差异范围从0.002到0.341(平均0.036)。对于Ne来说,估计为201.9、230.1和241.5。在Rij中,54.86%的估计值在0.01至77.7%的区间内。定义种群的行数对应于三条,大致组成为33.1%,32.4%和34.5%,分别。中国共产党,作为DHW的细分人群,杂合子的减少可能与可能的Wahlund效应有关。关键词:Wahlund效应,马科,遗传标记,合成品种,哈代·温伯格.
    The Costa Rican Paso Horse (CPC) is a breed developed in Costa Rica. The objectives were to estimate the genetic structure and evaluate the levels of genetic variability of the population. The genotypes of 14 microsatellites in 3654 records (2052 females and 1602 males) were analyzed. Expected (He) and observed (Ho) heterozygosity, polymorphic information content (CIP), fixation index (FIS), Shannon index, as well as Hardy-Weinberg disequilibrium (DHW) were evaluated. Kinship relationships (Rij) were estimated throughout the entire population. The effective population size (Ne) was calculated, alternating allele frequencies less than 0.05, 0.02 and 0.01. The Bayesian clustering study was carried out to infer how many lines are appropriate from the analysis of genotypes using multiple loci. The number of alleles per locus ranged from 7 to 17, with an average value of 9.6; nine loci presented DHW (P < 0.05); two loci presented negative FIS values, the same as Ho > He; the average of CIP, Ho and He was 0.254, 0.756 and 0.785, respectively. At the 12 loci where He > Ho, the differences ranged from 0.002 to 0.341 (0.036 on average). For Ne, the estimates were 201.9, 230.1, and 241.5. In the Rij, 54.86% of the estimates were in the interval of 0.01 to 77.7%. The number of lines that define the population corresponds to three, with an approximate composition of 33.1%, 32.4% and 34.5%, respectively. The CPC, as a subdivided population with DHW and a reduction in heterozygotes may be associated with possible Wahlund effects. Keywords: Wahlund effect, equines, genetic markers, synthetic breed, Hardy Weinberg.
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