Rare and low-frequency coding variants alter human adult height
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 …
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 …
Rare and low-frequency coding variants alter human adult height
Height is a highly heritable, classic polygenic trait with~ 700 common associated variants
identified so far through genome-wide association studies. Here, we report 83 new height-
associated coding variants with lower minor allele frequencies (range of 0.1-4.8%) and
effects of up to 2 cm/allele (eg in IHH, STC2, AR and CRISPLD2),> 10 times the average
effect of common variants. In functional follow-up studies, rare height-increasing variants of
STC2 (+ 1-2 cm/allele) compromised proteolytic inhibition of PAPP-A and increased …
identified so far through genome-wide association studies. Here, we report 83 new height-
associated coding variants with lower minor allele frequencies (range of 0.1-4.8%) and
effects of up to 2 cm/allele (eg in IHH, STC2, AR and CRISPLD2),> 10 times the average
effect of common variants. In functional follow-up studies, rare height-increasing variants of
STC2 (+ 1-2 cm/allele) compromised proteolytic inhibition of PAPP-A and increased …
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