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Large 51精品视频-led Study Uncovers Complex Genetics Behind Earlobe Attachment

A common, hands-on method for teaching genetics in grade school encourages students to compare their earlobes with those of their parents: Are they attached and smoothly mesh with the jawline? Or are they detached and dangly? The answer is meant to teach students about dominant and recessive genes.

Simple, right? Not so fast.

New research led by the聽51精品视频聽听补苍诲听聽and published聽in the聽American Journal of Human Genetics聽reveals that the lesson is much more complicated, with an interplay of at least 49 genes contributing to earlobe attachment.

鈥淪ometimes the genetics of a fairly simple trait are actually quite complex,鈥 said lead author John R. Shaffer, assistant professor in 51精品视频 Public Health鈥檚聽聽and the聽聽in 51精品视频鈥檚 School of Dental Medicine. 鈥淏y understanding that complexity, we can work toward treatments for genetic conditions, several of which have distinct facial features that involve the earlobe, including Mowat-Wilson Syndrome, which can cause cupped ears with protruding lobes.鈥

The study was an international collaboration involving investigators in the United Kingdom and China聽and included data from the U.S.-based personal genetics company聽23andMe Inc.

鈥淭he great thing about these collaborations is that we not only had a large sample size, but we also had participants from different ethnicities, giving us a greater depth of genetic information,鈥 said senior author Seth M. Weinberg, associate professor in 51精品视频鈥檚 departments of Oral Biology and Human Genetics.

The study 鈥斅爓hich is part of a broader investigation of the genetic basis of human facial features聽鈥 also gives insight into a debate that has been raging in the genetics community: Which is better? Large-scale population studies that cast a wide net but, due to their size, cannot hone in on specifics, or more-focused studies that can obtain extensive participant information? For their earlobe study, the 51精品视频 team did both.

First, the team investigated a sample of just under 10,000 participants who, in addition to providing genetic data, were examined to determine if their lobes were attached, detached or partially attached. The participants provided some medical history and were screened for a family history of congenital malformations.

Then, the team partnered with 23andMe to include nearly 65,000 of its customers who consented to participate in research 鈥 dramatically increasing the study鈥檚 statistical power. Unlike the more detailed assessment in the initial sample, the 23andMe participants provided self-reports about their own earlobe status as simply attached or detached.

鈥淭his is the unique power of 23andMe鈥檚 research platform 鈥 to quickly and easily make genetic discoveries across a broad variety of traits, uncovering biology that might never otherwise see the light of day because it doesn鈥檛 obviously meet the priorities for research funding,鈥 said Joyce Tung, 23andMe鈥檚 vice president for research. 鈥淎nd yet, important insights can still be drawn even from seemingly insignificant traits.鈥

Using just the information from the smaller group of 10,000 participants, the researchers were able to identify six genes that played roles in earlobe attachment. When the analysis was broadened to include the 23andMe participants, those six genes were again strongly implicated in earlobe attachment, but another 43 genes were added.

鈥淪o do we put our resources toward careful and rigorous study of a smaller set of individuals or is it better to get less detail, but recruit a lot more study participants?鈥 said Shaffer. 鈥淚n our study, we unite both of these approaches, and we see that using the bigger group gave us all the results of the smaller study, plus a whole lot more.鈥

The results don鈥檛 mean that grade school science teachers should stop using traits like earlobes to teach genetics. But the lesson needs to be updated to show that even a seemingly simple inherited trait, such as earlobe attachment, involves a complex and fascinating interplay of genes that geneticists are only beginning to understand, said co-author Eleanor Feingold, professor of human genetics and聽聽at 51精品视频 Public Health.聽

鈥淲e鈥檝e got these 49 genes that we know affect earlobe attachment, but we don鈥檛 know how they work together or interact with one another,鈥 said Feingold, also senior associate dean at 51精品视频 Public Health. 鈥淔iguring that out is the next step.鈥