Statura

L’altezza è una delle caratteristiche fisiche più evidenti di una persona, ma dietro questa semplice misura si cela un tratto complesso, determinato da un equilibrio tra genetica ed ambiente. Variazioni nella statura sono del tutto normali e dipendono da fattori come il sesso, l’età, l’etnia, l’alimentazione e lo stato di salute generale, specialmente durante la crescita. A livello genetico, si stima che circa l’80% dell’altezza finale di un individuo adulto sia ereditata dai genitori. Centinaia di geni partecipano a questo processo, influenzando la crescita delle ossa, la produzione di ormoni e altri meccanismi biologici. Alcune di queste variazioni genetiche agiscono in modo diretto sullo sviluppo scheletrico, altre influenzano indirettamente, ad esempio regolando la disponibilità di nutrienti o il metabolismo ormonale. Tuttavia, l’ambiente ha comunque un peso significativo. Una buona alimentazione durante l’infanzia e l’adolescenza, una crescita sana nel grembo materno e l’assenza di malattie debilitanti sono tutti fattori che permettono di esprimere al massimo il potenziale genetico in termini di altezza. Al contrario, carenze nutrizionali, malattie croniche o situazioni di stress socio-economico possono limitare la statura finale, come è stato osservato nei periodi storici segnati da guerre, carestie o diseguaglianze. Con l’invecchiamento, è normale osservare una leggera diminuzione dell’altezza, dovuta alla perdita di elasticità e volume dei dischi intervertebrali, alla riduzione della massa muscolare e ossea, o a problemi posturali legati all’età. In definitiva, l’altezza è il risultato di una lunga interazione tra ciò che ereditiamo e ciò che viviamo, e rappresenta un indicatore visibile e misurabile della nostra storia biologica e ambientale. Numero di varianti osservate 13,5 milioni di varianti Numero di loci analizzati 1357 loci

Geni analizzati

A3GALT2 AAMDC ABCA9 ABCB4 ABCB5 ABCC1 ABCC6 ABCE1 ABRACL ACADL ACADS ACAN ACP1 ACP6 ACVR2A ADAM11 ADAM17 ADAM28 ADAMTS10 ADAMTS17 ADAMTS2 ADAMTS3 ADAMTS5 ADAMTS6 ADAMTS8 ADAMTSL3 ADAR ADARB2 ADCY4 ADGRG6 ADGRL1 ADO ADRB1 AFAP1 AGRN AK3 AKAP11 AKR1C2 ALG10 ALOXE3 ALPG ALPP ANAPC4 ANGPTL7 ANK3 ANKFN1 ANKRD11 ANKRD55 ANKRD9 ANO1 ANP32B ANPEP ANTXR1 AOC1 AOPEP AP1S1 AP3B1 APC APOC1 APOC2 APOLD1 ARFGAP3 ARHGAP12 ARHGAP18 ARHGAP32 ARHGEF12 ARHGEF40 ARID1B ARID3B ARID5B ARL14EP ARMS2 ARNTL ARRDC2 ARRDC3 ARSB ARSJ AS3MT ASB3 ASCL1 ASTN1 ASXL2 ATAD2 ATAD2B ATF7IP ATF7-NPFF ATOH7 ATP1B2 ATP23 ATP5MC1 AXIN2 B3GNT7 B3GNT8 B4GALNT3 BAHCC1 BAK1 BAMBI BANF2 BBX BCKDHB BCL11A BCL2L11 BCL2L2 BCL6 BLID BLVRB BMP2 BMP3 BMP6 BNC2 BNIP1 BNIP3 BNIP3L BOC BOD1 BOK BPNT2 BPTF BRCA2 BRD1 BRD3 BST2 BSX BTBD18 BUB3 BYSL C12orf56 C12orf73 C16orf95 C1orf105 C2orf74 C3orf14 C4orf17 C5orf22 C6orf118 C8orf48 C9 CABLES1 CACUL1 CALD1 CALHM6 CAMKK2 CAMKMT CAPN1 CASP10 CBFA2T2 CBX1 CBX6 CBX7 CCDC134 CCDC152 CCDC182 CCDC198 CCDC78 CCDC91 CCER2 CCN3 CCND1 CCND2 CCNE1 CCNL1 CCR10 CCT6A CD164 CD2AP CD79B CDC16 CDC42EP3 CDK5RAP1 CDK6 CDKN1C CDKN2B CDON CDPF1 CDS2 CEBPB CENPE CENPW CEP120 CEP57 CEP63 CFAP251 CFAP299 CFAP418 CFAP65 CFDP1 CHCHD3 CHCHD7 CHD8 CHFR CHGA CHMP1A CHRAC1 CHRDL2 CHST3 CHSY1 CHSY3 CILP2 CISH CITED2 CKB CLCN7 CLDN20 CLDN22 CMIP CNIH3 CNNM4 CNOT4 CNPPD1 CNTLN COG6 COL11A1 COL15A1 COL1A2 COL3A1 COL6A1 COL6A2 COL6A3 COL8A1 COL9A2 COLGALT2 COP1 CORO6 COX6A1 COX6C COX7A2L CPED1 CPN2 CPZ CRACD CRADD CREB3L2 CREBBP CRELD1 CRIM1 CRISPLD1 CRISPLD2 CRNKL1 CRTAP CRTC3 CSMD1 CSTF2T CSTF3 CTC1 CTIF CTNNB1 CTPS1 CTSS CTSW CTU2 CUL1 CUL3 CXXC5 CYP11B1 CYP19A1 CYP26A1 CYP26B1 CYP27C1 CYP2R1 CYP3A7 CYRIB CYTH1 CYTL1 DAG1 DAP DAPK1 DAZAP2 DCAF17 DCBLD2 DCC DCPS DCST1 DCUN1D3 DDAH1 DDC DDN DDX51 DENND4A DENND5B DERPC DGKE DGKI DICER1 DIP2B DIPK1B DKK3 DLEU7 DLG5 DLK1 DLX6 DMP1 DNAAF9 DNASE1L3 DNM3 DOC2A DOCK3 DOT1L DPY19L3 DRAM1 DSCC1 DTL DTNB DUSP1 DUT DYSF E2F7 E4F1 EBF1 ECM2 ECRG4 EDEM3 EDN2 EDNRB EFCAB1 EFCAB13 EFCAB8 EFEMP1 EFHD1 EIF3G ELAVL2 ELK3 EMILIN2 EMILIN3 ENKUR ENPP2 EPB41L2 EPHA2 ERCC6L2 ERF ERGIC2 ERRFI1 ESR1 ESR2 ETHE1 ETNPPL ETS1 ETV1 ETV6 EXOSC9 EYA4 EZH2 FAAP20 FADD FADS1 FAF1 FAM120AOS FAM133B FAM204A FAM210B FAM98A FANCC FANCE FANK1 FAT4 FBLN5 FBN1 FBP1 FBXO27 FBXW8 FER FERD3L FERMT1 FEZ2 FEZF1 FGF18 FGF2 FGFR2 FGFR3 FGFR4 FGFRL1 FHIP1A FIGN FILIP1 FLI1 FLNB FMO5 FN1 FNDC9 FOLH1 FOSL2 FOXC1 FOXD2 FOXF1 FOXK2 FOXL1 FOXO1 FOXO3 FOXP1 FOXP4 FRMD8 FRRS1 FRS2 FRZB FST FUBP3 G6PC2 GABPB2 GADD45B GADD45G GAL GALNT17 GAPVD1 GAS1 GAS7 GASK1A GATAD2A GCH1 GCKR GDF5 GET1-SH3BGR GGACT GGTA1 GH1 GHR GHRHR GHSR GIGYF2 GIN1 GIPC2 GLCCI1 GLI2 GLI4 GLIS1 GLIS2 GLS GLT8D2 GLYR1 GMDS GMNC GNA12 GNAS GNPDA2 GNRH1 GNS GOLGA6A GOLGA6L4 GOPC GORASP2 GPC5 GPR21 GPR45 GPX5 GRAMD1B GRB2 GRID1 GRIFIN GRK2 GRK5 GSDMC GSG1 GSX1 GYPA H1-10 H3C8 H4-16 H4C4 HABP4 HAPLN3 HDAC11 HDAC3 HDHD5 HGFAC HHIP HIC1 HIVEP3 HLX HMCES HMGA1 HMGA2 HMGN2 HMGXB4 HMHB1 HOXD12 HPCAL1 HS6ST1 HS6ST3 HSD17B3 ICE2 ID4 IDH2 IER2 IFNGR2 IGF1 IGF1R IGF2 IGF2BP2 IGF2BP3 IGFBP3 IGFBP4 IHH IL11 IL23A IL3 ILF3 ILRUN INO80 INO80C INSM1 INSR INTS7 IQCH IRS1 ISG20 ISM1 ISYNA1 ITGB6 ITGB8 ITM2B ITPK1 JADE2 JAG1 JARID2 JAZF1 JMJD1C JMJD4 KBTBD2 KCNE2 KCNE4 KCNJ1 KCNJ12 KCNJ15 KCNJ16 KCNJ2 KCNK5 KCNMA1 KCNMB4 KCNRG KDM4A KDM4B KHNYN KIAA1614 KIF1A KIF1B KLF10 KLF11 KLF2 KLF3 KLF5 KLF6 KLHDC3 KLHL18 KLHL23 KLHL25 KLLN L3MBTL3 LAMC1 LARGE2 LATS2 LBH LCOR LCORL LDHA LDLR LDLRAD4 LEF1 LHPP LHX3 LIF LILRB5 LIMD1 LIMK1 LIN28A LIN28B LIN7B LITAFD LLPH LMF1 LMO1 LOX LOXL1 LOXL4 LPAR1 LPIN1 LPP LRCH1 LRP1 LRP1B LRP5 LRRC37A LRRC37B LRRC45 LRRC52 LRRC66 LRRK1 LRTM1 LSAMP LSM3 LTBP1 LTBP2 LTBP4 LUM LUZP1 LYPLAL1 LYSMD4 LYZL1 LYZL2 MAF MAFB MALSU1 MAMSTR MANSC4 MAP2K2 MAP2K6 MAP4 MAPK9 MAPKBP1 MARK3 MATN1 MATN3 MAX MBNL1 MC4R MCMBP MCTP2 MEAF6 MECOM MED13 MED13L MEF2C MEGF9 MEOX2 MEP1B MEPE MFAP2 MGMT MIA2 MICOS10 MINAR2 MKLN1 MKRN1 MKRN2OS MLPH MLST8 MMAB MMP14 MN1 MORC3 MOS MOXD1 MPHOSPH6 MRC2 MRLN MRPL23 MRPL28 MRPL4 MRPL44 MRPS11 MRPS31 MRPS34 MRTFB MSH3 MSL2 MSRB3 MTBP MTIF2 MTMR11 MUSK MXD3 MYBL2 MYC MYCN MYEOV MYH7 MYL3 MYL7 MYMK MYO1F N4BP2L2 N6AMT1 NACA2 NASP NAT14 NAV3 NBL1 NBPF9 NCAPG NCKIPSD NCL NCOR2 NEDD1 NEIL2 NEK4 NEURL4 NFATC1 NFATC4 NFE2L3 NFIB NFIL3 NIPBL NKIRAS1 NKX2-1 NKX3-2 NME2 NME5 NME8 NOCT NOG NOS3 NOSIP NOX4 NPC2 NPFF NPM2 NPPC NPR3 NPVF NR0B2 NR2E3 NR2F2 NR3C1 NR4A2 NR5A2 NTAN1 NUB1 NUCKS1 NUDT16L1 NUDT6 ODF2L ODF3 OGFR OGFRL1 OPTN OR13J1 OR4C13 OR4D9 OR5AN1 ORM1 OS9 OSR1 OSTN OTUD1 PABPN1 PAFAH1B1 PANK3 PAPLN PAPPA PAPPA2 PARD3 PARP11 PARP12 PAX9 PCBP1 PCDHB14 PCGF5 PCMTD2 PCOLCE2 PCP4 PCSK1 PCSK5 PCSK6 PDE10A PDE2A PDE3A PDE5A PDE6A PDE7B PDE8A PDGFA PDIK1L PDLIM4 PDPN PEF1 PELI2 PEX2 PGP PGPEP1L PGS1 PHC3 PHF21A PHGDH PIEZO1 PIK3R1 PITX1 PKD1 PKN2 PLA2G6 PLAG1 PLCD3 PLCG1 PLCG2 PLCL1 PLEC PLEKHG4 PLOD2 PLPP1 PLPP3 PLPPR1 PLXNC1 PM20D2 PMCH PMFBP1 PNMA8C PNPLA1 PNPT1 POLD3 POLDIP2 POLR1F POLR3E POMC POU1F1 POU3F3 POU5F1B PPIF PPM1B PPP1R3B PPP1R3C PPP2R5A PPP3CC PPP3R1 PRDM13 PRIM1 PRKG1 PRKG2 PRL PRMT8 PROSER2 PROSER3 PROZ PRPF38A PRRX1 PRSS3 PRTFDC1 PSMB3 PSMD2 PSME1 PSTPIP1 PTCH1 PTHLH PTP4A2 PTPN1 PTPN14 PTPN9 PTPRG PTPRM PTRHD1 PVALEF PXDN QKI QSOX2 R3HCC1 RAB18 RAB28 RAB2B RAB3C RAB3GAP1 RABGAP1L RAD18 RAD23B RAD51B RALGAPA1 RALGPS1 RAP1B RAPSN RASA2 RASGRP3 RASSF8 RAVER2 RBL2 RBM34 RBM39 RCAN2 RCBTB1 REST REV1 RFK RFT1 RFX2 RGMA RGS3 RHOH RIBC2 RILPL2 RIMKLB RMI1 RNF135 RNF144B RNF181 RORA RORB RPL3 RPL34 RPL5 RPLP1 RPS13 RPS20 RPS21 RRAS2 RREB1 RSBN1L RSPO3 RSRC1 RTL1 RTP2 RUNX2 RUNX3 RYBP RYK SALL1 SAMD9 SATB2 SAXO1 SBF2 SCAND1 SCARA3 SCARF2 SCIN SCX SDC1 SDCCAG8 SDHA SDR16C5 SEC16A SEC22A SEMA3D SEMA4A SENP2 SENP6 SENP8 SEPTIN4 SERGEF SERPINA1 SERPINE2 SERPINF1 SERPINH1 SETBP1 SETD9 SF3A3 SF3B4 SFMBT2 SFRP1 SFRP4 SH2B2 SH2B3 SH2D4A SH2D5 SH3PXD2A SHMT1 SIK3 SIM2 SIX1 SIX3 SKI SKP2 SLC10A6 SLC15A1 SLC16A6 SLC16A7 SLC16A9 SLC1A2 SLC1A7 SLC22A3 SLC22A4 SLC22A5 SLC25A33 SLC25A37 SLC26A7 SLC27A6 SLC29A4 SLC2A9 SLC35D1 SLC35G6 SLC38A1 SLC38A2 SLC38A4 SLC39A8 SLC45A1 SLC45A4 SLC5A12 SLC66A3 SLC6A12 SLC6A6 SLC7A1 SLC8A3 SLC9A4 SLCO1C1 SLCO4C1 SLF2 SLFNL1 SLITRK6 SMAD2 SMAD3 SMAD6 SMAD7 SMAD9 SMARCA5 SMG7 SMIM18 SMIM23 SMIM24 SMIM29 SMLR1 SMOC1 SMOC2 SMOX SMURF2 SNAI1 SNAP91 SNED1 SNX11 SNX13 SOCS2 SOCS5 SORBS2 SOST SOX11 SOX5 SOX9 SP3 SPAAR SPACA6 SPAG17 SPAG6 SPATA17 SPATA31C2 SPATA31D1 SPC24 SPDYE21 SPG7 SPIN1 SPRED1 SPRED2 SPRY1 SPRY2 SPRYD3 SPRYD7 SPSB1 SPTY2D1 SRBD1 SREBF1 SREK1IP1 SRSF7 SSBP3 SSR1 SSTR2 SSTR5 ST3GAL1 STARD13 STAU1 STC2 STK25 STOML1 STOX1 STPG4 STRA8 STX1A SUCLG2 SUFU SULF1 SUMO1 SUSD5 SYMPK SYNE1 SYNGR2 SYT13 SYTL2 TACR3 TADA2B TARS1 TASOR TBC1D31 TBX15 TBX18 TBX2 TBX20 TBXT TC2N TCF4 TCFL5 TCP11 TDG TEAD1 TEDC1 TEFM TEKT4 TENM2 TENT2 TENT4A TENT5A TET1 TET2 TEX37 TGFB2 TGFB3 TGFBR2 TGFBR3 THBS2 THOC1 THRAP3 TICRR TIGAR TIGIT TIMM22 TIMP2 TIMP3 TIPARP TLDC2 TLE1 TLE3 TLR5 TMBIM1 TMBIM4 TMC3 TMCO5A TMED7 TMEM106B TMEM106C TMEM115 TMEM129 TMEM165 TMEM181 TMEM204 TMEM229A TMEM263 TMEM270 TMEM38B TNC TNFAIP8L3 TNFSF12 TNP1 TNPO1 TNRC6A TNS1 TOP2B TP53I13 TPCN2 TPRG1 TPSG1 TRA2B TRAM2 TRANK1 TREH TRIB1 TRIL TRIM13 TRIM32 TRIM48 TRIM7 TRIOBP TRMT44 TRMT9B TRPC4AP TRPS1 TSEN15 TTBK2 TTC13 TTC28 TTC30A TTLL12 TULP4 TUT7 TWIST1 TWIST2 TXN TXNDC5 UBE2D2 UBE2E2 UBE3D UBP1 UCN2 UFSP1 UHRF1 UPK1A UQCC2 USE1 USP10 USP24 USP25 USP3 UTP23 UTS2B UVSSA VGLL2 VGLL4 VIL1 VILL VPS13C VSIG10L2 VXN WASHC3 WDR19 WDR5 WDR75 WDR81 WNT10A WNT2B WNT3 WNT4 WNT5A WNT7A WNT7B WRAP53 WWOX WWP2 XPO4 XRN2 YWHAB ZAR1 ZBED6 ZBTB18 ZBTB2 ZBTB20 ZBTB26 ZBTB38 ZBTB42 ZBTB48 ZC3H14 ZC3HC1 ZCCHC24 ZCCHC8 ZDHHC7 ZFAT ZFHX3 ZFP1 ZFP36L2 ZIC1 ZKSCAN3 ZMIZ1 ZNF169 ZNF318 ZNF354C ZNF423 ZNF462 ZNF483 ZNF484 ZNF518A ZNF521 ZNF536 ZNF557 ZNF585A ZNF608 ZNF638 ZNF652 ZNF687 ZNF703 ZNF799 ZNF827 ZNF831 ZNF844 ZNF92 ZNHIT6 ZRANB1 ZRANB2 ZSCAN16 ZSWIM1 ZZEF1

Bibliografia

UK Biobank Database. Standing height, Data-Field 50 [Version Feb-2022] National Library of Medicine (NIH). Is height determined by genetics? [Jun 2020] Grunauer M, Jorge AAL. Genetic short stature. Growth Horm IGF Res. 2018 Feb;38:29-33 Jelenkovic A, et al. Genetic and environmental influences on height from infancy to early adulthood: An individual-based pooled analysis of 45 twin cohorts. Sci Rep. 2016 Jun 23;6:28496.