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我在美国做基因检测（下）之遗传健康风险报告

作者: GeneRanger 发布: 2018-12-09 231阅读 250评论

上一篇小编详细讲述了23andMe基因检测报告的第二大类报告：突变携带者报告。今天，我们来看小编基因检测结果报告的第三大类报告。这是大家都很关注并且十分感兴趣的报告：遗传健康风险报告（Genetic Health Risk Reports）。

你能从遗传健康风险报告中获得什么？
一句话总结一下：遗传健康风险报告可以告诉你，你的DNA会如何影响你的未来健康状况。
我相信这个问题是很多人都非常关注的，也是很多人去做基因检测的初衷。比如，最近小编收到很多读者的私信，其中很多都是在问通过基因检测能不能知道自己以后会不会得乳腺癌、阿尔兹海默症（俗称老年痴呆症）或者是帕金森综合征等等。如果基因检测能够预测你未来患病的几率高低，那你岂不是对自己健康状况有更加精准的掌握？ 而且，如果你的患病概率高，你还可以早早做准备去预防。

在深入探讨这个问题之前，小编想科普一下遗传变异这个生物学概念，因为23andMe公司这个遗传健康风险报告是基于遗传变异的报告。小编认为，如果你理解了这个概念，不用问“砖家”你也可以读懂自己的这份报告。

那么，什么是遗传变异呢？
简洁一点的回答：遗传变异是指不同个体在DNA水平上的差异。每两个人的DNA是有差别的。比如，你的DNA正链序列是AATTC，我的是AATTG，那么我们两个就有遗传差异。那这种差异到底你“不正常”，还是我“不正常”呢？那我们只有去看更多人的DNA信息才会得出结论。比如，我们找了一百个人去测DNA，最后发现大家的DNA都是AATTG，那就说明你才是那个有遗传变异的。

什么是风险性遗传变异？
遗传变异是很普遍的现象，一般来说不会影响健康。只有少数的遗传变异会增加你患有某种疾病的风险，比如乳腺癌、阿尔兹海默症等等。这些就是23andMe要检测的风险性突变位点。

我的报告检测出了风险性遗传变异，我该怎么办？
就算你检测出了风险性遗传变异，你也有一定的概率在未来不会患病。因为，风险性遗传变异和疾病的有无只是根据相关性（correlation）得出的，目前并没有充足的证据证明它们是因果关系。所以，当你面对你有突变的报告时也不要“肝儿颤”。相反的，就算你没有检测出风险性遗传变异，也不代表你在未来不会得病。因为，23andMe对于特定的疾病并没有检测出所有可能的风险性遗传变异位点。所以，也请你轻点“策马奔腾”。

未来患病风险评估，并不都是基因说了算
有无风险性遗传变异只是一个人患病风险率评估的一部分。除此之外，还有至少三个重要因素需要考量：生活习惯，生存环境和家族史。如果你在基因水平检测出风险性遗传变异，你完全可以通过调控其他因素来降低你的总体患病风险。如果你检测出了遗传变异位点，并且还有家族史，小编建议找医生去做关于这种特定疾病的更加详细的基因检测，也就是去检测比23andMe更多更详细的遗传变异位点。

好了，科普了这么多，我想大家可以更理智得去看这份报告了。
那么这就来看看小编的报告吧！来看看23andMe都检测了哪些疾病和对应的突变位点吧！

23andMe总共8种疾病风险检测，分别是：

1. BRCA1/BRCA2 基因的3个位点突变

这个报告是今年四月份刚刚加入进来的新报告。BRCA1/BRCA2基因中的某些位点突变，是临床检测出的、同提高乳腺癌和宫颈癌风险性紧密相关的突变。这些变异也可能与前列腺癌和其它癌症的风险增加相关。23andMe选取的这三个突变位点在德系犹太人后裔中比较常见。小编的报告中并没有检测出这三个突变，所以在这一项里面并没有提供风险值。但是，BRCA1/BRCA2基因中同癌症相关的遗传变异位点有1000个之多，就算你在23andMe的报告中没有检测出来也不代表你没有其他的遗传突变。（下面这张截图是给做生物专业同学的一个福利，这三个SNP的具体信息如下。）

2. 年龄相关性黄斑变性

小编的报告中检测出了一个突变，但是计算出的得病的风险率并不大。年龄相关性黄斑变性（AMD）是老年人不可逆性视力丧失的最常见原因。该疾病导致视网膜中央部分（黄斑）受损，损害阅读，驾驶甚至识别面部所需的视力。23andMed的测试包括两种最常见的遗传变异位点：ARMS2基因上的A69S突变和CFH基因上的Y402H突变。这与患病风险增加有关。小编的突变发生在ARMS2基因上，A69S突变。但是计算出的Likelihood ratio只有0.67，最高的风险率可以达到21.70。有一点需要注意的是，这个风险模型是建立在欧洲人种后裔的基础上的，因为小编是中国人，所以这个风险率可能会有一些偏差。

那么重点来了！敲黑板！！！在生活和饮食上小编应该注意哪些才能防止老年时候得这种病呢？23andMe简直天使一般的给出了非常严谨的科学研究建议！送它一万个么么哒。

总结一下建议：不抽烟，查看家族史，饮食上吃深绿色叶子蔬菜，柑橘属的水果，坚果和全麦谷物。多多摄取健康的脂肪，比如鱼类，坚果和橄榄油。不要食用饱和脂肪和反式脂肪。强烈的阳光照射也是对眼睛的伤害，外出尽量带墨镜。这种病的患病率比较低，得病的人中只有36%的人有小编的突变。

3. 晚发性阿尔茨海默病

阿尔茨海默病的特征是记忆力减退，认知能力下降和性格改变。迟发型阿尔茨海默病是阿尔茨海默病最常见的形式，发病年龄在65岁以后。包括遗传在内的许多因素都可以影响患者发展该病的机会。该测试只包括与迟发性阿尔茨海默病相关的最常见遗传变异一个位点，APOE基因的ε4位点。

4. 帕金森病

帕金森氏病的特点是震颤，肌肉僵硬和运动问题。包括遗传学在内的许多因素都可以影响一个人发展帕金森病的机会。该测试包括两种与增加患病风险相关的遗传变异： LRRK2基因上的G2019S突变和GBA基因上的N370S突变。

5. α-1抗胰蛋白酶缺乏症

AAT缺乏症是一种可导致肺部和肝脏疾病的遗传病症。它是由α-1抗胰蛋白酶（AAT）蛋白水平降低引起的。这个测试包括了与这个缺陷有关的两个最常见的变体：SERPINA1基因上的PI*Z突变和PI*S突变。

6. 乳糜泻

乳糜泻是一种自身免疫性病症，其中谷蛋白（小麦，大麦和黑麦中）的消耗可能导致小肠受损。乳糜泻可导致消化和非消化问题。该测试包括两种常见的变体，与发生这种情况的风险增加有关：HLA-DQB1， HLA-DQA1基因附近的连接HLA-DQ2.5和HLA-DQ8的突变位点。

7. 遗传性血色病（HFE相关）

遗传性血色沉着病是一种以吸收过多膳食铁为特征的遗传病症。这可能会导致铁超负荷，这会导致关节和某些器官（如肝脏，皮肤，心脏和胰腺）的损伤。该测试包括与这种情况相关的两种最常见的变体：HFE基因上的C282Y和H63D。

8. 遗传性血栓形成倾向

遗传性血栓形成倾向是发展有害血凝块的倾向。这些有害的血块通常在腿中形成并可以传播到肺部。该测试包括与遗传性血栓形成倾向有关的两种最常见变体：F5基因上的Factor B Leiden突变和F2基因上的G20210A突变。

好了，这八种疾病和检测的相关基因突变总结完了。一种疾病的形成可以是多个基因共同作用的结果，也可能是一个基因多个遗传变异位点共同作用的结果。23andMe或者所有现有的基因检测有一个共同的问题，那就是“管中窥豹”。大家可以看到其实检测的疾病并不多，而且检测的基因也只有一两个，不仅如此，同一个基因上的位点也只有代表性的一两个。

所以，大家要理性的对待。不能觉得基因检测完了你就什么都知道了。也不能因为检测出了遗传变异就吓得坐立不安。因为，基因检测的风险分析只是遗传层面的风险分析，一个人获得一种疾病的风险很大程度上还是生活习惯、生存环境和家族遗传决定的。

看到这里的都是真爱粉，小编给你们大大的么么哒。希望小编每天费心费力的科普能够给大家解答困惑。
今天就汇报到这里。还有2个大部分的报告我们会在后续文章一一详谈，比如：Wellness reports, 健康报告和Traits reports, 个人特征报告。

小编都会在后续的文章中用自己的实例，一份不差的全部总结并详解。让大家能够对基因检测报告能容有一个全面并且深刻的认识！

喜欢的请点个赞，也不枉小编码字辛苦~对基因检测感兴趣的请关注“GeneRanger”公众号。

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作者: GeneRanger

生物信息，基因检测。微信公众号：GeneRanger，可扫描二维码关注。



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