View Full Version : Coding Variants for height

04-02-17, 18:30
Marouli et al

"Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1–4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height-increasing alleles of STC2 (giving an increase of 1–2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways."

If anyone has institutional access maybe you could fill us in. Most of the information is in the Supplement, probably, though.


Table 4

04-02-17, 19:27
That's great. Artificial Intelligence programs combined with improved algorithms are so good in finding all statistical significances. It should snowball from now on.

04-02-17, 19:34
how tall would you get if you had all 83 codes right ?

04-02-17, 19:43
how tall would you get if you had all 83 codes right ?

Or wrong. :)

I don't know when my son is going to finally stop growing, but it had better be soon. I thought it was supposed to be over by the early 20s, no? (He was on the small and slight side almost until the middle of high school, and now it just keeps going; he's still lean and fine boned though, a swimmer's body.) He's already almost 6'3", 3 inches taller than his father, who for my taste is about perfect height. Of course, that's totally subjective on my part. I'm 5'6" and with heels it's the perfect dancing height. :)

Seriously, I didn't go into depth analyzing all the material in the graphs, and I think a lot of it is probably in the paper itself, which is behind a pay wall.