Question 发表于 2019-7-3 16:08:42

白白的遗传概率是多少?听听哈里斯教授怎么说!

I was driving into Boston on Friday to meet with a pharmaceutical company and discuss developing new treatments for vitiligo. While I was listening to National Public Radio (NPR), I heard a human-interest piece titled, “Inheriting A Rare Skin Condition, And The Ability To Laugh About It”. It was an entry for StoryCorps, where they record stories from people in America that they archive into the Library of Congress for posterity. It’s about a father and daughter who both have vitiligo, and how that affected their relati**hip.

First, I had to get past the fact that they called vitiligo a “rare skin condition” – it is not. In fact, it’s one of the most common autoimmune diseases of the skin or any organ. But after that, the story reminded me of a question I’m asked in clinic by patients all the time. “What are the chances my kids are going to get vitiligo?” They know the emotional and other struggles that go along with having vitiligo, and are afraid for their children.

The risk of developing vitiligo in the general population is about 1%, or 1 in 100 people. That is really common. In comparison, the risk for juvenile diabetes is about 0.2%, or 1/500, and multiple sclerosis is 0.1%, or 1/1000. Because vitiligo is so common and visible, I see multiple people with it when I’m in large crowds, like at town fairs (a favorite past time in the fall). I often catch myself staring, and then feel terrible because that’s one of the main complaints of patients with vitiligo, and one that’s discussed in the NPR story (the daughter jokingly tells a child she caught it by staring at someone else). Both men and women are at similar risk for getting vitiligo, and over half of patients who have vitiligo got their first spots before the age of 20. We think the risk is the same all over the world, but we don’t know for sure. In fact, it’s likely even more common than 1%, because unlike patients with juvenile diabetes who must go to the doctor for treatment to survive, vitiligo patients may or may not choose to go to the doctor, and therefore may not be “counted”.

Ok, now for the risk to family members. This is particularly interesting to me, because my grandmother (on my mother’s side) and her brother both had vitiligo, but I don’t have it (yet). If a person has vitiligo, the risk that a first-degree family member (parent, child, or sibling) is 5%, or 5 times higher than the general population. That seems like a big increase, but even so, that means only about 1 in 20 first-degree relatives of vitiligo patients get vitiligo as well. That brings me back to the NPR story – the father in the story says, “I was shocked, because I had asked doctors if any of my kids would have vitiligo, and they said, ‘Probably not, it usually skips a generation.’ So when I found out that you had it, I was scared for you.” It’s not true that vitiligo “usually skips a generation”. It may seem that way though, since later generati** have more people (you typically have more grandchildren than children, and so on), and therefore it’s more likely that someone will get the disease in later generati** because there are just more people.

The fact that vitiligo is more common in family members of people with vitiligo means that genetics play a role in the disease. That’s not too surprising, since genetics plays a role in most diseases, as well as normal traits (like hair color, height, etc). Dr. Richard Spritz has done some amazing work in the past 10 years discovering some of the genes that affect vitiligo risk, and I’ll ask him to comment on his work in a future blog entry.

Finally, it’s important to mention that genetics aren’t the entire story for vitiligo. Environmental factors, and probably chance, each play a role as well. We know this because an identical twin of a person with vitiligo has a 23% risk of developing the disease as well, even though almost all of their DNA is identical. If genes were the whole story, that risk would be 100% (as with cystic fibrosis, for example). I’ll blog about these environmental and other factors in the future as well, but in the meantime, you can read about environmental factors here.
周五,我驱车前往波士顿,与一家制药公司会面,讨论开发治疗白癜风的新疗法。当我在听美国国家公共广播电台(NPR)的时候,我听到了一篇很有人情味的文章,题目是“继承一种罕见的皮肤状况,并能对此一笑置之”。这是StoryCorps的一个条目,他们在这里记录美国人的故事,并将其存档到国会图书馆(Library of Congress),供子孙后代阅读。这是关于一个父亲和女儿谁都患有白癜风,以及如何影响他们的关系。



首先,我必须克服一个事实,那就是他们把白癜风称为一种“罕见的皮肤状况”——事实并非如此。事实上,它是皮肤或任何器官最常见的自身免疫性疾病之一。但在那之后,这个故事让我想起了一个我在诊所里经常被病人问到的问题。“我的孩子患白癜风的几率有多大?”“他们知道患白癜风会带来情感和其他方面的痛苦,也很担心自己的孩子。



一般人群患白癜风的风险约为1%,即每100人中有1人患白癜风。这很常见。相比之下,青少年患糖尿病的风险约为0.2%或1/500,多发性硬化症的风险为0.1%或1/1000。因为白癜风是如此常见和可见,我看到很多人与它时,我在人群中,如在城镇集市(一个最喜欢的时间在秋天)。我经常发现自己盯着别人看,然后感觉很糟糕,因为这是白癜风患者的主要抱怨之一,也是美国国家公共广播电台(NPR)报道中讨论的一个问题(女儿开玩笑地告诉一个孩子,她是通过盯着别人看而染上白癜风的)。男性和女性患白癜风的风险相似,超过一半的白癜风患者在20岁之前就出现了白癜风。我们认为全世界的风险都是一样的,但我们不确定。事实上,它可能比1%更常见,因为与必须去看医生才能生存的青少年糖尿病患者不同,白癜风患者可能选择去看医生,也可能不选择去看医生,因此可能不被“计算”。



好了,现在谈谈对家庭成员的风险。这对我来说特别有趣,因为我的祖母和她的哥哥都患有白癜风,但我还没有。如果一个人患有白癜风,其一级家庭成员(父母、孩子或兄弟姐妹)患白癜风的风险为5%,是普通人群的5倍。这似乎是一个很大的增长,但即使如此,这意味着只有大约1 / 20的一级亲属白癜风患者得到白癜风以及。这让我回到了美国国家公共电台的故事——故事中的父亲说,“我很震惊,因为我问过医生我的孩子中是否有人会得白癜风,他们说,‘可能不会,这通常会跳过一代人。“所以当我发现你有这种病时,我很为你担心。白癜风“通常会跳过一代人”的说法是不正确的。虽然看起来是这样的,因为后代有更多的人(你通常有更多的孙辈比孩子,等等),因此更有可能有人会在后代中患上这种疾病,因为有更多的人。



事实上,白癜风在白癜风患者的家庭成员中更为常见,这意味着基因在这种疾病中发挥了作用。这并不奇怪,因为基因在大多数疾病中都起着作用,就像正常的特征(如头发颜色、身高等)一样。Richard Spritz博士在过去10年里做了一些惊人的工作,发现了一些影响白癜风风险的基因,我将请他在未来的博客中对他的工作发表评论。



最后,值得一提的是基因并不是白癜风的全部原因。环境因素,可能还有机会,每一个因素都发挥着作用。我们之所以知道这一点,是因为白癜风患者的同卵双胞胎也有23%的风险罹患白癜风,尽管他们几乎所有的DNA都是相同的。如果基因是全部,那么这种风险将是100%(例如囊性纤维化)。我也会在以后的博客中讨论这些环境因素和其他因素,但与此同时,你可以在这里阅读环境因素。
https://www.umassmed.edu/vitiligo/blog/blog-posts1/2014/06/will-my-childrenfamily-get-vitiligo/

Question 发表于 2019-7-3 16:11:41

一般人群患白癜风的风险约为1%,即每100人中有1人患白癜风。如果一个人患有白癜风,其一级家庭成员(父母、孩子或兄弟姐妹)患白癜风的风险为5%,是普通人群的5倍。

亦宁 发表于 2019-7-3 16:20:13

这个跟7%左右的遗传概率数据也差不多,其实遗传一方面,更多后天环境,压力等等因素影响,还是坦然面对这些数据!

suoyi 发表于 2019-7-3 16:32:12

感觉哈里斯还是认为遗传因素是一个挺重要的原因呀。而且他说后来越来越多的话,得白白的概率就会越来越大,是这个意思吗?

suoyi 发表于 2019-7-3 16:36:04

他的意思是说,随着后代越来越多,风险越来越大,是这个意思吗?就算子女辈没有遗传到,也有可能孙子辈,或者朝后代,人越多,风险越大?

不该来的来了 发表于 2019-7-3 17:00:01

不管什么病,它都有一定的遗传的,其实只要有解决这方面病的药出现那就不怕了。

凯瑞 发表于 2019-7-3 17:00:05

遗传率很低

suoyi 发表于 2019-7-3 17:24:59

不该来的来了 发表于 2019-7-3 17:00 static/image/common/back.gif
不管什么病,它都有一定的遗传的,其实只要有解决这方面病的药出现那就不怕了。

不就是没有药吗?有药还怕什么呢?

suoyi 发表于 2019-7-3 17:28:11

凯瑞 发表于 2019-7-3 17:00 static/image/common/back.gif
遗传率很低

照哈里斯说的子孙越来越多,概率就不小了呀

天长地也久 发表于 2019-7-3 17:33:55

哈哈

031188 发表于 2019-7-3 17:53:19

遗传低

牛蛙 发表于 2019-7-3 18:06:35

总的来说,还是比较低的!

suoyi 发表于 2019-7-3 18:19:25

感觉还是好害怕,子女辈没有,孙子辈呢?都靠赌概率吗?不敢想了!

意冷 发表于 2019-7-3 21:50:09

才疏学浅,看不懂

zl8238555 发表于 2019-7-4 08:25:58

我觉得遗传还是比较高的,我爸爸妈妈爷爷奶奶外公外婆都没有白白,但我外公的弟弟有,外公弟弟的二女儿有,我有,我二舅的外孙也有,不过一代只有一个。
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