In addition to the items in WeGene's official report, there are over 600,000 SNPs waiting to be explored
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这个位于 Y 染色体上的知名位点曾被认为代表了古代爱尔兰至高王“九人质的尼尔”的父系单倍群。 Famous marker on the Y chromosome originally thought to represent the paternal line of Ireland's earliest historical figure. * 小编注：尼尔是五世纪时的一名军阀，是古代爱尔兰最强大的王朝的首领。2006 年的一项研究称每 12 名爱尔兰人中就有 1 人是其后裔。
神经母细胞瘤是一种非常罕见的、可治愈的癌症，多见于 5 岁以下儿童，常见发病部位为肾上腺。在美国，每年仅有 700 例该病确诊，占十五岁以下儿童的十万分之一。目前，我们对该病的遗传及环境风险仍然知之甚少。 Neuroblastoma is an extremely rare but curable cancer that is found most often in children under five years old. It usually affects the adrenal glands, which are located near the kidneys. Only about 700 cases occur in the U.S. each year, affecting about 1 in 100,000 children under age 15. Very little is known about the relative roles of genetics and environment in the development of neuroblastoma. 这项在欧洲裔中开展的研究包括 1752 名患者和 4171 名健康人对照。作者发现 rs6939340 为 GG 基因型的人比起 AG 基因型的人风险高 1.4 倍。而 AA 基因型的人相比 AG 基因型的人只有 0.7 倍的风险。 This study compared 1,752 neuroblastoma patients of European descent with 4,171 healthy controls. The authors found that people with the GG genotype at rs6939340 had 1.4 times the odds of getting neuroblastoma compared to people with one A and one G. People with an A at both copies of the SNP had 0.7 times the odds of neuroblastoma compared to those with the AG genotype.
肌萎缩侧索硬化风险 (ALS) 是一种罕见且致命的神经疾病。通常患者在出现症状后只有 3 年左右的寿命。在美国，人们也称该疾病为卢-伽雷病。这是因为在 1941 年，纽约洋基队的明星选手卢-伽雷就死于该病。根据国家神经疾病和中风研究所数据，目前美国有约 20000 名患者，且每年每十万人中就有一人发病。这些患者大多为散发性案例，这当中也许有遗传因素的作用，但具体的突变我们尚不清楚。 Amyotrophic Lateral Sclerosis (ALS) is a rare and deadly neurological disorder that typically claims victims' lives about three years after symptoms begin. In the United States, it is more commonly known as Lou Gehrig's Disease, after the Yankees slugger who died of ALS in 1941. According to the National Institute of Neurological Disorders and Stroke, about 20,000 people in the United States have ALS. About 1 in 100,000 people in the U.S. develop the disease per year. Most of them develop the sporadic form of the disease, which may have genetic roots but does not spring from a specific known mutation. 这项在欧洲裔中开展的研究包括 1767 名患者和 1916 名健康人对照。作者发现 rs10260404 为 CC 基因型的人比起 TT 基因型的人患散发性 ALS 的风险高 1.3 倍。但后续研究没有能重复该结果。 This study examined 1,767 Europeans with ALS and 1,916 healthy controls. The authors found that each C at rs10260404 increased a person’s risk for the sporadic form of ALS by about 1.3 times compared to those with the TT genotype. Subsequent studies have failed to confirm this association, however.
"见光喷嚏反射"是指在从黑暗的环境进入相对光亮环境时（如阳光下）会打喷嚏的特征。对一般有此反射的人来说，通常也就是 2-3 个喷嚏的事，但也曾有报道有人一连打了 43 个喷嚏！对于到底是什么造成了这种反射没人知道，但这确实是一种非常常见的情况。对于此反射，我们又称之为 “阿嚏”（ACHOO）综合征。 The “photic sneeze reflex” refers to the tendency to sneeze when moving from relative darkness into bright light—most often sunlight. For many people there are just two or three sneezes, but one researcher documented up to 43! No one really knows what causes these un-induced sneezes. No matter what the cause, the photic sneeze reflex, or "ACHOO syndrome" is pretty common. 23andme 开展的包括了 5388 名欧洲裔用户的研究中发现，rs10427255 上为 CC 基因型的人有此反射的几率是其他人的 1.3 倍。 A study of 5388 individuals of European ancestry who participated in 23andMe research surveys identified a genetic variant associated with the photic sneeze reflex. Each copy of the C version at rs10427255 increased one's odds of ACHOO by about 1.3 times.
对诺如病毒的抵抗能力是高度遗传性的。如果你在 rs601338 位点是 AA 基因型，你的 FUT2 基因将失去功能，但也会获得对大多数诺如病毒株的抵抗能力。除了该位点以外，也有一些其他位点与对诺如病毒的抵抗力有关。请注意，拥有该位点上的突变不代表你对该病毒完全免疫。在处理和食用生食、与可能患病的人接触时你仍需要注意采取措施。 Norovirus resistance is highly heritable. If you have two copies of the A version of this SNP, you lack a functioning FUT2 gene and are most likely resistant to the most common strain of this virus. Other genetic variants besides the one reported here can also result in resistance to norovirus. It is important to note that having this variant does not make someone completely resistant to all forms of norovirus. You should still take recommended precautions when handling or consuming raw food and when interacting with people who may be ill.
SLC4A1 基因决定了一个人的 Diego 血型类型。该基因编码了一种能够在血红细胞内外转运铁离子的蛋白，并且对红细胞是否能够将代谢产生的二氧化碳输送到肺里并排出体外起到了关键作用。 The SLC4A1 gene determines the Diego blood group. It makes a protein that transports ions in and out of red blood cells and plays an essential role in enabling the red blood cells to transport the waste product carbon dioxide to the lungs, where it can be removed from the body. 不同的 Diego 血型类型进行输血时产生的免疫反应可能会造成中度到严重的输血反应，并且会在新生儿中造成溶血反应。 Immune responses to blood mismatched for the Diego blood group can cause moderate to severe transfusion reactions and mild to severe hemolytic disease of the newborn.
LCT 基因编码了乳糖酶蛋白，而乳糖酶是消化牛奶中乳糖所必须的一种酶。LCT 基因旁的 MCM6 基因上的突变则被发现与乳糖酶的生成能力有关。尽管 MCM6 基因本身与乳糖酶合成没有任何关系，但它起到了 LCT 基因是否表达的开关作用。 This gene encodes the lactase protein, which is an enzyme required to digest a sugar called lactose found in milk. The SNP that was found to determine lactase persistence actually lies in a gene near LCT called MCM6. Although MCM6 does not have anything to do with lactose digestion, the MCM6 gene overlaps with a region that is thought to act as an on/off switch for the LCT gene. rs4988235 上的 A 基因型被认为是相对“年轻”的一个突变——因为它很少在亚裔和非洲裔中被发现。这一突变使成年人也能生产乳糖酶，表明 LCT 基因在这种情况下被激活了。细胞实验也表明 A 基因型能带来更好的乳糖保护能力。 The A version is the result of a relatively recent change, as it is rare in Asian and African populations. This version allows production of lactase into adulthood, suggesting that it changes how the on/off switch for the LCT gene is activated. Studies have confirmed that the A version results in more overall lactase production in cells in the lab. 然而，一个 GG 基因型的人也有可能是乳糖耐受的。也许有一些我们尚不清楚的机制也在影响着这一能力的表现——就有研究发现在非洲裔中有其他的遗传标记可以带来乳糖耐受能力。 A person may have the GG genotype at the SNP reported here, but still be lactose tolerant. Several other genetic markers have been identified in African populations that allow lactase to be produced into adulthood. There may also be other, unknown genetic effects on lactose intolerance.
这项在欧洲裔中进行的研究包括 835 名男性尿道下裂患者和 1029 名健康人。研究发现 DGKK 基因上的 rs1934177 位点为 AA 基因型的人患病的概率高 2.6 倍。尽管女性不会受此影响，但仍有可能将风险位点遗传下去。 In this study, researchers compared 835 males with hypospadias to 1029 males without the condition, all of European descent. They found that each copy of an A at rs1934177 (which is equivalent to the SNP reported by the researchers) within the DGKK gene was associated with about 2.6 times higher odds of hypospadias. While women are not directly affected by this SNP, they may pass on genetic factors to their children.
如果一个人在 HERC2 基因上的 rs12913832 位点上携带 2 个 A 碱基，TA 的眼睛绝大多数情况下都会是棕色的。如果是 AG 基因型，则棕色或绿色都有可能——此时眼睛到底是什么颜色取决于 OCA2 和其他基因上的突变。GG 基因型的人通常是蓝色的眼睛，但绿色也有可能。这也与其他的 SNP 有关。 Two copies of the A version of the SNP in HERC2 almost always result in brown eyes. One copy of the A version and one copy of the G version can produce brown or green eyes—which color probably depends on other variations in the OCA2 gene, or in other genes. Two copies of the G version of this SNP usually results in blue eyes—but green eyes are possible too, also due to other SNPs.
2008年，这项由 Bouatia-Naji 主持的研究发现，在 9353 名平均空腹血糖在正常或稍高范围内 (低于 6.1 mmol/L 或 110 mg/dl) 的法国和芬兰人中，rs560887 位点上是 TT 的被试的空腹血糖要平均低 0.06 mmol/L (1 mg/dl)。 A study done by Bouatia-Naji, et al. (2008) looked for SNPs associated with fasting plasma glucose in 9,353 French and Finnish subjects who had levels below 6.1 mmol/L (110 mg/dl) – in the normal range or slightly above. The authors found that on average, each T at rs560887 lowered subjects' fasting plasma glucose level by 0.06 mmol/L (1 mg/dl).
Sjögren-Larsson 综合征是由于无法加工脂肪而引起的罕见遗传病。具有这种该综合征的婴儿通常会过早出现红润色的皮肤，然后会出现干燥和鳞屑的症状，此外患者在儿童早期还会出现双腿功能和智力障碍。Sjögren-Larsson 综合征是由称为 ALDH3A2（Aldehyde Dehydrodgenase Family 3 Member A2）的基因突变引起的。因为该性状是隐性的，所有只有父母都具有该基因的致病型，子代才可能患病。 Sjögren-Larsson 综合征非常罕见，但在瑞典的该综合征的发病率会稍高，大约每 17 万人中约有 1 人患有该病情。本解读是关于一个主要出现于瑞典祖源的突变。 Sjögren-Larsson syndrome is a rare inherited condition caused by an inability to process fats. Babies with this condition are often born prematurely with reddish skin that becomes dry and scaly over time. Impaired function of the legs and intellectual disabilities usually appear in early childhood. Sjögren-Larsson syndrome is caused by mutations in a gene called ALDH3A2 (Aldehyde Dehydrodgenase Family 3 Member A2). It is inherited in a recessive manner, meaning that a person must receive a mutated copy of the gene from each parent to have the disorder. Sjögren-Larsson syndrome is very rare, but is somewhat more common in Sweden, where about one in every 170,000 persons is born with the condition. This report covers one mutation that is found primarily in people with Swedish ancestry.
肥厚性心肌病的症状主要表现在心肌增厚，是导致心力衰竭的原因之一。这种情况与调控心脏中重要功能的基因突变有关。已经有超过 10 种不同基因中的数百个突变被发现与该病具有关联。其中大约 50％ 的病例均由 MYBPC3 和 MYH7 这两个基因的突变引起。迄今为止，这种突变仅在印度、巴基斯坦、印度尼西亚、斯里兰卡和马来西亚祖先的个体中发现。 Hypertrophic cardiomyopathy is characterized by a thickening of the heart muscle and is a cause of heart failure. This condition is associated with mutations in genes that serve important functions in the heart. Hundreds of mutations in more than 10 different genes have been linked to this condition. Roughly 50% of all cases are caused by mutations in two genes MYBPC3 and MYH7. This mutation has thus far only been found in individuals with ancestry from India, Pakistan, Indonesia, Sri Lanka, and Malaysia. 该位点上有一个突变拷贝的个体通常会得不同程度的迟发性和轻度肥厚性心肌病。而具有两个突变拷贝的个体可能会得早发性和严重肥大性心肌病。然而，一些缺失了25个碱基对的个体却可能没有表现出症状或患有这种疾病。即使您的数据表明本解读中没有该突变，不代表您在 MYBPC3 或其他与肥大性心肌病相关的基因中没有突变。如果您担心增生性心肌病，请咨询专业医护人员。 People with a single copy of the variant reported here typically have late-onset and mild hypertrophic cardiomyopathy, though symptoms and severity can vary. Individuals with two mutated copies of the MYBPC3 gene may have early-onset and severe hypertrophic cardiomyopathy. However, some individuals with the 25 base pair deletion variant may not have symptoms or develop this condition. You can still have a mutation in MYBPC3 or another gene linked to hypertrophic cardiomyopathy even if your data indicate that you do not have the mutation covered in this report. If you are concerned about hypertrophic cardiomyopathy, please consult a health care professional. (23&me)
二氢嘧啶脱氢酶缺乏症 (也被称为遗传性胸腺嘧啶尿嘧啶尿症或家族性嘧啶毒血症) 是一种由 DPYD 基因突变引起的罕见疾病。该基因编码 DPD 蛋白，一种通常会分解胸腺嘧啶和尿嘧啶的酶。具有一个或两个DPYD * 2A（IVS14 + 1G > A）突变的个体也可能对通过 DPD 酶分解的化疗药物5-氟尿嘧啶（5-FU）产生不良反应。 Dihydropyrimidine dehydrogenase (DPD) deficiency (also known as hereditary thymine-uraciluria or familial pyrimidinemia) is a rare disorder caused by mutations in the DPYD gene. This gene encodes the DPD protein, an enzyme that normally breaks down thymine and uracil. Individuals with one or two DPYD*2A (IVS14+1G>A) mutations are also at risk for adverse reactions to fluorouracil (5-FU), a chemotherapy drug that is broken down by the DPD enzyme.
reward-dependence一译（社会性）报酬依存性，简单说就是对社会、周围、他人对自己的评价、态度、目光的在意程度，或者说集体主义程度。日本弘前大学的研究组声称发现rs1801260与（社会性）报酬依存性相关，但男女竟然出现相反的结果！(*Φ皿Φ*)该论文称此位点是AA/AG的女性社会性报酬依存性高、男性相反报酬依存性低；GG的男性报酬依存性高、女性报酬依存性低。此处楼主表示严重怀疑，楼主感觉无论男女都是AA/AG（社会性）报酬依存性高、GG报酬依存性低，小伙伴们觉得呢？ 报酬依存性高者的特征：更在意别人、大众怎么看自己、评价自己；害怕得罪人，即使内心不情愿也难以拒绝别人；容易从众，不敢与群体不一样。 报酬依存性高低的特征：更不在乎他人、社会评价；一个人也不会感到孤独；敢于特立独行、与众不同。 ※配图是纳粹德国时期人群中唯一拒绝行纳粹礼的August Landmesser
rs4680 (Val158Met) is a well studied SNP in the COMT gene. The COMT gene codes for the COMT enzyme, which breaks down dopamine in the brain's prefrontal cortex. The wild-type allele is a (G), coding for a valine amino acid; the (A) substitution polymorphism changes the amino acid to a methionine. This alters the structure of the resultant enzyme such that its activity is only 25% of the wild type. As a result, A allele carriers have more dopamine in their prefrontal cortex, which may be responsible for many of the neuropsychological associations listed below. 23andMe blog summarizes the alleles at this SNP as rs4680(A) = Worrier. Met, more exploratory, lower COMT enzymatic activity, therefore higher dopamine levels; lower pain threshold, enhanced vulnerability to stress, yet also more efficient at processing information under most conditions rs4680(G) = Warrior. Val, less exploratory, higher COMT enzymatic activity, therefore lower dopamine levels; higher pain threshold, better stress resiliency, albeit with a modest reduction in executive cognition performance under most conditions Roughly speaking, the predominant wisdom (known colloquially as the warrior/worrier hypothesis; summary at [PMID 17008817]) posits that people with Val alleles have increased COMT activity and lower prefrontal extracellular dopamine compared with those with the Met substitution. Val158 alleles may be associated with an advantage in the processing of aversive stimuli (warrior strategy), while Met158 alleles may be associated with an advantage in memory and attention tasks (worrier strategy). Under conditions of increased dopamine release (eg, stress), individuals with Val158 alleles may have improved dopaminergic transmission and better performance, while individuals with Met158 alleles may have less efficient neurotransmission and worse performance. Some evidence suggests that Val158 alleles are associated with schizophrenia, while Met158 alleles are associated with anxiety.
智齿，学名第三大臼齿，俗称近根牙、智慧齿、立事牙、尽头牙，是从中间门牙牙缝向里数的第 8 颗牙齿。 人类的智齿一共有 4 颗，上下颚各两颗，有许多人类智齿天生就会缺少。 智齿的生长方面，个体差异很大，有的人 16 岁就开始长，有的人四、五十岁才长，有的人终生不长，这都是正常的。 四颗智齿不是都必然会长全，某些人的智齿可能只长 1 至 2 颗，有的智齿甚至长到一半就不再生长，这种情况称为智齿阻生。 “本研究基于日韩人群的第三臼齿发育不全者全基因组，虽然我们的 GWAS 使用了来自东亚人群的样本，但已知第三磨牙发育不全的概率在不同人群之间并不一致。” 本研究发现有三个位点与显著相关，rs1469622 的 T 可导致至少一颗智齿的缺失。一般情况下，上颚智齿缺失的情况远大于下颚智齿缺失， rs938036 的 T 和 rs906628 的 G 与下颚智齿缺失相关。这个微解读用的是 rs1469622。 注：智齿没长出来≠智齿缺失 Tooth agenesis is the most common developmental anomaly of human dentition, occurring most often in the third molar (wisdom tooth). It is affected by genetic variation, the incidences of third molar agenesis vary between populations, this module is based on genome-wide association study (GWAS) of third molar agenesis in EAST ASIAN populations ( Korean and Japanese), the prevalence of third molar agenesis is known to vary across populations. The study found 3 positions that show significant association with third molar agenesis. T allele in rs1469622 accounts for at least one molar agenesis; T allele in rs938036 and G allele rs906628 account for mandibular, which is a rarer case than maxillary. This module applies rs1469622.
在这个小龙虾、烤生蚝和撸串横行的季节里，啤酒是夜生活里必不可少的东西。随着精酿啤酒兴起和进口啤酒的发展，夜宵摊和啤酒屋里的啤酒选择也越来越多。一般我们可以从三个方面描述啤酒的口味：麦芽味（Maltiness）、果味（Fruitiness)和苦味（Bitterness）。无论你是多么牛逼的吃货或者酒鬼，都是用嘴巴里的味觉受体来品味啤酒的这些滋味。TAS2R38基因会影响口腔味觉受体对苦味的敏感度。 去年，meantime（www.meantimebrewing.com）啤酒厂的酿酒师根据自己在23andme的基因检测结果，给自己定制了一款啤酒——其苦味是根据酿酒师的TAS2R38基因的情况定制的。你是不是也想试试根据DNA定制的啤酒？ TAS2R38基因上常见的SNP有三个：rs713598，rs10246939和rs1726866。但这三个SNP是强连锁的，换言之就是对大部分人而言，检测其中任何一个位点就能知道其他两个位点的结果。所以这个微解读就是用rs10246939的结果。 具体的啤酒推荐只是一个参考，大家自己琢磨。