Scientists Uncover Nearly All Genetic Variants Linked to Height

Largest genome-wide association study achieves ‘the impossible’

close-up of a stadiometer that measures height
Image: chameleonseye/iStock/Getty Images+

Scientists have long known that height is mostly hereditary, but even the geneticists who set out to study height two decades ago weren’t certain they’d ever be able to find the common genetic factors influencing this trait.

Now, by studying the DNA of 5.4 million people, a team led by those same geneticists has done what they thought years ago would be impossible.

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In the largest study of its kind to date, members of the GIANT consortium — including researchers at the Broad Institute of MIT and Harvard, Harvard Medical School, and Boston Children’s Hospital — have identified more than 12,000 genetic variants that influence height.

These variants explain 10 percent to 40 percent of all variation in height, depending on a person’s ancestry. They cluster around parts of the genome involved in skeletal growth.

The team said that because of its unprecedented size, the study has uncovered the vast majority of the genetic variants linked to height and is the capstone of a 20-year effort.

“We feel that this is really a milestone,” said co-senior author Joel Hirschhorn, HMS professor of genetics, the HMS Concordia Professor of Pediatrics at Boston Children’s Hospital, and leader of the GIANT consortium. “We’d been studying height for a while but had only identified a small fraction of common variant heritability.”

“We’re now basically done mapping this heritability to specific genomic regions,” he added, “and that highlights what increasing sample size can tell us about traits controlled by multiple genes.”

Hirschhorn said that the findings, published in Nature on Oct. 12, could one day help physicians identify individuals who aren’t reaching their genetically predicted height and might have a hidden disease or deficiency affecting their growth and health.

After about the 20th patient, I thought, Hey, I’m working in a place that can figure this out.

Joel Hirschhorn

Even the most optimistic among us didn’t think we’d get this big this fast.

Joel Hirschhorn

  • NIH support

    A complete list of NIH grants supporting this study

    75N92021D00001, 75N92021D00002, 75N92021D00003, 75N92021D00004, 75N92021D00005, AA07535, AA10248, AA014041, AA13320, AA13321, AA13326, DA12854, U01 DK062418, HHSN268201800005I, HHSN268201800007I, HHSN268201800003I, HHSN268201800006I, HHSN268201800004I, R01 CA55069, R35 CA53890, R01 CA80205, R01 CA144034, HHSN268201200008I, EY022310, 1X01HG006934-01, R01DK118427, R21DK105913, HHSN268201200036C, HHSN268200800007C, HHSN268200960009C, HHSN268201800001C, N01HC55222, N01HC85079, N01HC85080, N01HC85081, N01HC85082, N01HC85083, N01HC85086, 75N92021D00006, U01HL080295, R01HL085251, R01HL087652, R01HL105756, R01HL103612, R01HL120393, U01HL130114, R01AG023629, UL1TR001881, DK063491, R01 HL095056, 1R01HL139731, R01HL157635, 1RO1HL092577, K24HL105780, HHSC268200782096C, R01 DK087914, R01 DK066358, R01 DK053591, 1K08HG010155, 1U01HG011719, U01 HG004436, P30 DK072488, HHSN268200782096C, U01 HG 004446, R01 NS45012, U01 NS069208-01, R01-NS114045, R01-NS100178, R01-NS105150, HL043851, HL080467, CA047988, UM1CA182913, U01HG008657, U01HG008685, U01HG008672, U01HG008666, U01HG006379, U01HG008679, U01HG008680, U01HG008684, U01HG008673, U01HG008701, U01HG008676, U01HG008664, U54MD007593, UL1TR001878, R01-DK062370, R01-DK072193, intramural project number 1Z01-HG000024, N01-HG-65403, DA044283, DA042755, DA037904, AA009367, DA005147, DA036216, 5-P60-AR30701, 5-P60-AR49465, N01-AG-1-2100, HHSN271201200022C, National Institute on Aging Intramural Research Program, R-35-HL135824, AA-12502, AA-00145, AA-09203, AA15416, K02AA018755, UM1 CA186107, P01 CA87969, R01 CA49449, U01 CA176726, R01 CA67262, UM1CA167552, CA141298, P01CA055075, CA141298, HL54471, HL54472, HL54473, HL54495, HL54496, HL54509, HL54515, U24 MH068457-06, R01D0042157-01A1, RO1 MH58799-03, MH081802, 1RC2MH089951-01, 1RC2 MH089995, R01 DK092127-04, R01DK110113, R01DK075787, R01DK107786, R01HL142302, R01HG010297, R01DK124097, R01HL151152, R01-HL046380, KL2-RR024990, R35-HL135818, R01-HL113338, R35HL13581, HL 046389, HL113338, K01 HL135405, R03 HL154284, R01HL086718, HG011052, N01-HC-25195, HHSN268201500001I, N02-HL-6-4278, R01-DK122503, U01AG023746, U01AG023712, U01AG023749, U01AG023755, U01AG023744, U19AG063893, R01-DK-089256, R01HL117078, R01 HL09135701, R01 HL091357, R01 HL104135, R37-HL045508, R01-HL053353, R01-DK075787, U01-HL054512, R01-HL074166, R01-HL086718, R01-HG003054, U01HG004423, U01HG004446, U01HG004438, DK078150, TW005596, HL085144, RR020649, ES010126, DK056350, R01DK072193, R01 HD30880, R01 AG065357, R01DK104371, R01HL108427, Fogarty grant D43 TW009077, 263 MD 9164, 263 MD 821336, N.1-AG-1-1, N.1-AG-1-2111, HHSN268201800013I, HHSN268201800014I, HHSN268201800015I, HHSN268201800010I, HHSN268201800011I and HHSN268201800012I, KL2TR002490, T32HL129982, R01AG056477, R01AG034454, R01 HD056465, U01 HL054457, U01 HL054464, U01 HL054481, R01 HL119443, R01 HL087660, U01AG009740, RC2 AG036495, RC4 AG039029, U01AG009740, RC2 AG036495, RC4 AG039029, 75N92020D00001, HHSN268201500003I, N01-HC-95159, 75N92020D00005, N01-HC-95160, 75N92020D00002, N01-HC-95161, 75N92020D00003, N01-HC-95162, 75N92020D00006, N01-HC-95163, 75N92020D00004, N01-HC-95164, 75N92020D00007, N01-HC-95165, N01-HC-95166, N01-HC-95167, N01-HC-95168, N01-HC-95169, UL1-TR-000040, UL1-TR-001079, UL1-TR-001420, N02-HL-64278, UL1TR001881, DK063491, R01-HL088457, R01-HL-60030, R01-HL067974, R01-HL-55005, R01-HL 067974, R01HL111249, R01HL111249-04S1, U01HL54527, U01HL54498, EY014684, EY014684-03S1, EY014684-04S1, DK063491, S10OD017985, S10RR025141, UL1TR002243, UL1TR000445, UL1RR024975, U01HG004798, R01NS032830, RC2GM092618, P50GM115305, U01HG006378, U19HL065962, R01HD074711, 5K08HL135275, R01 HL77398, NR013520, DK125187, HHSN268201700001I, HHSN268201700002I, HHSN268201700003I, HHSN268201700004I, HHSN268201700005I, R01HL087641, R01HL086694, U01HG004402, HHSN268200625226C, UL1RR025005, U01HG007416, R01DK101855, 15GRNT25880008, N01-HC65233, N01-HC65234, N01-HC65235, N01-HC65236, N01-HC65237, U01HG007376, HHSN268201100046C, HHSN268201100001C, HHSN268201100002C, HHSN268201100003C, HHSN268201100004C, HHSN271201100004C, N01-AG-6-2101, N01-AG-6-2103, N01-AG-6-2106, R01-AG028050, R01-NR012459, P30AG10161, P30AG72975, R01AG17917, RF1AG15819, R01AG30146, U01AG46152, U01AG61256, AG000513, R01 HD58886, R01 HD100406, N01-HD-1-3228, N01-HD-1-3329, N01-HD-1-3330, N01-HD-1-3331, N01-HD-1-3332, N01-HD-1-3333, UL1 TR000077, R01 HD056465, R01 HG010067, R01CA64277, R01CA15847, UM1CA182910, R01CA148677, R01CA144034, UM1 CA182876, R01DK075787, R01DK075787, ZIA CP010152-20, U19 CA 148537-01, U01 CA188392, X01HG007492, HHSN268201200008I, Z01CP010119, R01-CA080122, R01-CA056678, R01-CA082664, R01-CA092579, K05-CA175147, P30-CA015704, CA063464, CA054281, CA098758, CA164973, R01CA128813, K25 HL150334, DP2 ES030554, U19 CA148065, CA128978, 1U19 CA148537, 1U19 CA148065, 1U19 CA148112, U01 DK062418, U01-DK105535, R01HL24799 NIHHLB, U01 DK105556, DK093757, HL129982 and T32 HL007055.