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血型竟然还和抗雾霾能力有关?!

在刚刚过去的 2017 年美国心脏病协会大会期间,来自美国犹他州山间医疗中心心脏研究所的科学家报道,通过对该机构过去14年间的病患数据研究发现,在 PM2.5 暴露后,A 型、B 型、ABO 型的人发生急性心血管疾病事件的概率较 O 型的人更高。进一步分析发现,决定血型的 ABO 基因上的一个位点 rs687289 的基因型不同导致了这种差异。rs687289 为 GG 基因型的人(高概率为 O 型血)在PM 2.5下发生急性心血管事件的风险更低。

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Author: seacookie View Details

脂联素水平与乳腺癌之间的关系

一项包括 733 位乳腺癌患者的研究发现,rs2241766 与 rs1501299 的基因型突变组合会影响个体的脂联素(adiponectin)水平。同时,脂联素水平高的个体患乳腺癌的风险更低。中等脂联素水平的个体的患病率是高脂联素水平个体的 4.16 倍,低脂联素水平的患病率更高达 6.56 倍。

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Author: CAS9 View Details

你有多容易感到抑郁、悲伤、绝望和孤独呢?

BACKGROUND: Independent of temporal circumstances, some individuals have greater susceptibility to depressive affects, such as feelings of guilt, sadness, hopelessness, and loneliness. Identifying the genetic variants that contribute to these individual differences can point to biological pathways etiologically involved in psychiatric disorders. METHODS: Genome-wide association scans for the depression scale of the Revised NEO Personality Inventory in community-based samples from a genetically homogeneous area of Sardinia, Italy (n = 3972) and from the Baltimore Longitudinal Study of Aging in the United States (n = 839). RESULTS: Meta-analytic results for genotyped or imputed single nucleotide polymorphisms indicate that the strongest association signals for trait depression were found in RORA (rs12912233; p = 6 × 10⁻⁷), a gene involved in circadian rhythm. A plausible biological association was also found with single nucleotide polymorphisms within GRM8 (rs17864092; p = 5 × 10⁻⁶), a metabotropic receptor for glutamate, a major excitatory neurotransmitter in the central nervous system. CONCLUSIONS: These findings suggest shared genetic basis underlying the continuum from personality traits to psychopathology.

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Author: wls View Details

快来看一看你的皮肤保湿程度吧!

秋天到了,很多皮肤干燥的人又要苦恼了。然而,皮肤的保湿能力也是和基因相关的,有的小伙伴就是不容易干燥起皮。有研究通过比较不同人的经皮失水率(指透过表皮丢失的水分量,是评价皮肤屏障功能的重要指标之一),发现rs11103631在亚洲人中的频率和保湿能力显著相关。 来看下你的皮肤保湿程度吧!

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Author: shenzhen777 View Details

词汇发音能力

Candidate genes have been identified for both reading and language, but most of the heritable variance in these traits remains unexplained. Here, we report a genome-wide association meta-analysis of two large cohorts: population samples of Australian twins and siblings aged 12-25 years (n = 1177 from 538 families), and a younger cohort of children of the UK Avon Longitudinal Study of Parents and their Children (aged 8 and 9 years; maximum n = 5472). Suggestive association was indicated for reading measures and non-word repetition (NWR), with the greatest support found for single nucleotide polymorphisms (SNPs) in the pseudogene, ABCC13 (P = 7.34 × 10(-8)), and the gene, DAZAP1 (P = 1.32 × 10(-6)). Gene-based analyses showed significant association (P < 2.8 × 10(-6)) for reading and spelling with genes CD2L1, CDC2L2 and RCAN3 in two loci on chromosome 1. Some support was found for the same SNPs having effects on both reading skill and NWR, which is compatible with behavior genetic evidence for influences of reading acquisition on phonological-task performance. The results implicate novel candidates for study in additional cohorts for reading and language abilities.

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Author: wls View Details

听力(语言性、listening)

Candidate genes have been identified for both reading and language, but most of the heritable variance in these traits remains unexplained. Here, we report a genome-wide association meta-analysis of two large cohorts: population samples of Australian twins and siblings aged 12-25 years (n = 1177 from 538 families), and a younger cohort of children of the UK Avon Longitudinal Study of Parents and their Children (aged 8 and 9 years; maximum n = 5472). Suggestive association was indicated for reading measures and non-word repetition (NWR), with the greatest support found for single nucleotide polymorphisms (SNPs) in the pseudogene, ABCC13 (P = 7.34 × 10(-8)), and the gene, DAZAP1 (P = 1.32 × 10(-6)). Gene-based analyses showed significant association (P < 2.8 × 10(-6)) for reading and spelling with genes CD2L1, CDC2L2 and RCAN3 in two loci on chromosome 1. Some support was found for the same SNPs having effects on both reading skill and NWR, which is compatible with behavior genetic evidence for influences of reading acquisition on phonological-task performance. The results implicate novel candidates for study in additional cohorts for reading and language abilities.

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Author: wls View Details

听力(非语言性、hearing)

Hearing loss and individual differences in normal hearing both have a substantial genetic basis. Although many new genes contributing to deafness have been identified, very little is known about genes/variants modulating the normal range of hearing ability. To fill this gap, we performed a two-stage meta-analysis on hearing thresholds (tested at 0.25, 0.5, 1, 2, 4, 8 kHz) and on pure-tone averages (low-, medium- and high-frequency thresholds grouped) in several isolated populations from Italy and Central Asia (total N = 2636). Here, we detected two genome-wide significant loci close to PCDH20 and SLC28A3 (top hits: rs78043697, P = 4.71E-10 and rs7032430, P = 2.39E-09, respectively). For both loci, we sought replication in two independent cohorts: B58C from the UK (N = 5892) and FITSA from Finland (N = 270). Both loci were successfully replicated at a nominal level of significance (P < 0.05). In order to confirm our quantitative findings, we carried out RT-PCR and reported RNA-Seq data, which showed that both genes are expressed in mouse inner ear, especially in hair cells, further suggesting them as good candidates for modulatory genes in the auditory system. Sequencing data revealed no functional variants in the coding region of PCDH20 or SLC28A3, suggesting that variation in regulatory sequences may affect expression. Overall, these results contribute to a better understanding of the complex mechanisms underlying human hearing function.

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Author: wls View Details

你容易长蛀牙吗?

OBJECTIVE: In this study, we investigated whether single nucleotide polymorphisms (SNPs) in DLX3 are associated with dental caries susceptibility in Japanese children. DESIGN: Genomic DNA of 201 Japanese children was extracted from buccal epithelial cells. The subjects were divided into two groups: 'low level' group with <10,000 colony forming units (CFU) of Streptococcus mutans/mL saliva (level 0) and 'high level' group with ≥ 10,000 CFU/mL (more than level 1). Each group was further divided according to decayed, missing, filled teeth (dmft) into low caries experience (dmft ≤2) and high caries experience (dmft ≥ 3). Seven SNPs in DLX3 were genotyped using TaqMan1® SNP Genotyping Assay. RESULTS: Statistical significant association was observed between DLX3 (rs2278163) and caries experience in 'high level Mutans streptococci' group. CONCLUSION: These findings suggest that rs2278163 SNP of DLX3 might be associated with dental caries susceptibility in Japanese children. T and C alleles of rs2278163 SNP may potentially be involved in caries susceptibility and caries protection respectively.

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Author: wls View Details

【你并不是学渣,只是没找到合适的方法】-最适合你的学习方法是什么?

你是否觉得现在的学习方式不适合你呢?

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Author: GlennGould View Details

为你的拖延症找借口!你的拖延症有多严重?

美国最新心理研究发现,原来拖延症也和基因有关!

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Author: GlennGould View Details

你儿童时期说话早吗?【该基因在自闭症患儿中多为GG】

rs2710102, a common SNP in the CNTNAP2 gene, was found to be significantly associated (p<0.028) with a delayed onset of speech, as measured by the age at which a child speaks their first words, in children with autism. This effect is primarily seen in males, perhaps correlated with the 4-5x overrepresentation of males with autism compared with females.[PMID 18179893OA-icon.png] The confirmatory Stage 2 study was performed on 304 independent parent-child trios. However, the risk allele and the degree to which speech is delayed per genotype is unclear as published and awaits clarification by the authors.[PMID 18179893OA-icon.png]

  • 2023
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Author: GlennGould View Details

Dyslexia-阅读障碍:宝宝智商130,而且没有多动症,为啥成绩老不好?

有多个相互独立的关于阅读障碍的研究中,都发现了DCDC2基因所在的区域和阅读障碍有相关性。rs793862是DCDC2上的一个多态性位点, 在高加索人中,这个SNP的A碱基会使阅读障碍的风险升高。 在一个研究中, rs793862在更严重的诵读困难者的亚群中计算得到的风险值比在一般的阅读障碍的人群中更高。 AA型的相对风险,用一般的阅读障碍患者计算是3.15(95%置信区间为 1.30-7.66, p=0.011),用更严重的诵读困难的亚群计算的相对风险是 5.40(95%置信区间为 1.27-23.01, p=0.002)。

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Author: GlennGould View Details

天(gene)注定系列之:数学能力

Mathematical ability is heritable, but few studies have directly investigated its molecular genetic basis. Here we aimed to identify specific genetic contributions to variation in mathematical ability. We carried out a genome wide association scan using pooled DNA in two groups of U.K. samples, based on end of secondary/high school national academic exam achievement: high (n = 419) versus low (n = 183) mathematical ability while controlling for their verbal ability. Significant differences in allele frequencies between these groups were searched for in 906,600 SNPs using the Affymetrix GeneChip Human Mapping version 6.0 array. After meeting a threshold of p<1.5×10(-5), 12 SNPs from the pooled association analysis were individually genotyped in 542 of the participants and analyzed to validate the initial associations (lowest p-value 1.14 ×10(-6)). In this analysis, one of the SNPs (rs789859) showed significant association after Bonferroni correction, and four (rs10873824, rs4144887, rs12130910 rs2809115) were nominally significant (lowest p-value 3.278 × 10(-4)). Three of the SNPs of interest are located within, or near to, known genes (FAM43A, SFT2D1, C14orf64). The SNP that showed the strongest association, rs789859, is located in a region on chromosome 3q29 that has been previously linked to learning difficulties and autism. rs789859 lies 1.3 kbp downstream of LSG1, and 700 bp upstream of FAM43A, mapping within the potential promoter/regulatory region of the latter. To our knowledge, this is only the second study to investigate the association of genetic variants with mathematical ability, and it highlights a number of interesting markers for future study.

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Author: wls View Details

恐惧感的持续时间:简单说就是胆大胆小?

……位于CNR1基因上的rs2180619被发现与参与测试者恐惧消失所需的时间相关

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Author: 蓝星旗 View Details

你有成为天山童姥的潜质吗?-年轻基因

硫酸脱氢表雄酮(DHEAS)是一种荷尔蒙,在25岁左右时达到峰值,85岁左右时仅剩约5%,因此被认为与衰老有关,也称“年轻荷尔蒙”。即使是同龄人,血液中的DHEAS浓度也会不同,美国哈佛大学的研究组发现位于BMF基因上的rs7181230会影响DHEAS浓度呦~ GG的同学出来现身说法走两步呗?

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Author: 蓝星旗 View Details

你是文科学霸or学渣也是基因注定的?!-言语性智商

冰岛的deCODE Genetics公司(这貌似也是个基因检测公司捏,wg也加把劲儿发篇paper啊)发现了影响言语性智商(verbal-iq)的相关基因哦~文科学霸和学渣们来测评下准不准呢? (我在原始数据中没找到这个位点,但还可以创建微解读是什么鬼?@chengang )

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Author: 蓝星旗 View Details

P21

P21基因是近年来发现的细胞周期蛋白依靠性激酶抑制剂家族中的重要成员。既与肿瘤抑制作用密切相关,又能通过抑制周期素依赖激酶(Cyclin-dependent kinases CDKs)复合物活性,协调细胞周期、DNA复制与修复之间的关系,从而将肿瘤抑制作用与细胞周期控制过程紧密相连。p21基因的发现、克隆及其在细胞周期控制与肿瘤发生中有重要作用。 P21基因的多态性与一些恶性肿瘤的易感性有关 相关解读 https://www.wegene.com/crowdsourcing/details/26 https://www.wegene.com/crowdsourcing/details/210 https://www.wegene.com/crowdsourcing/details/163

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Author: CAS9 View Details

为什么有些人觉得香菜是“臭”的?

你知道爱不爱吃香菜其实会受到你的基因影响吗?

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Author: zzisabat View Details

你喜欢猪肉吗?

很多食物,比如牛羊猪肉都有它们非常独特的膻味。而对于它们的气味,有的人很喜欢,有的人却感觉难闻,甚至难以下咽。 雄烯酮是类固醇,是公猪肉膻味主要来源,它大量存在于未阉割的公猪口水中,人类的男性与女性的汗水与尿液,以及芹菜的细胞质中也有极少量发现。发表在Nature上的一个研究发现, 不同的人对雄烯酮的反应不一样,有人喜欢它香甜的气味,也有人觉得它的味道是令人厌恶的。 你是哪一种呢?

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Author: yaoxt View Details

自由派还是保守派?

We did find a significant association between political conservatism and rs10952668 (Table 5). This SNP lies in LOC642355, a pseudogene on chromosome 7. Not surprisingly, the SNP also showed an association with the highly correlated trait of Democrat versus Republican (b = 0.260, P < .02). An interesting finding was that the SNP associated with political conservatism, rs10952668, also showed marginal evidence for association with the personality traits openness (b = 0.142, P < .06) and agreeableness (b = 0.130, P  < .08), which are positively correlated with political liberalism.68 Because the correlation is positive, contrary to findings from political psychology that conservatives tend to be less open and agreeable (in the sense of compassionate69), these results raise the possibility that the association between rs10952668 and conservatism may be attributable to selection bias rather than the gene causing the personality traits typical of conservatives. (Because to our knowledge this potential selection artifact has not been discussed in the genetic epidemiology literature—although it has parallels in the effects of natural selection on linkage disequilibrium—we explore it at some length in the Discussion section.) After we added general cognitive ability, openness, neuroticism, and agreeableness as covariates in an attempt to control for selection bias, the association of rs10952668 and conservatism diminished and fell short of significance.

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Author: chengang View Details