Research Progress on Molecular Biology of Human Height Estimation

doi:10.12116/j.issn.1004-5619.2022.520301

Abstract

Abstract:

As an important anthropometric characteristic， human height not only contributes to the recognition of other anthropological characteristics and genetic risk factors， but also is an important part of forensic DNA phenotyping studies. Accurate estimation of height can provide more complete information about the phenotype of suspects and provide help to solve cases. In recent years， having benefited from the rapid development of molecular biological techniques and bioinformatics， height-related genetics research has made some progress. This paper describes the research progress of human height estimation from the genetic variation and the epigenetic inheritance perspectives and looks into the future research direction.

Key words: forensic genetics, molecular biology, height estimation, genetic variation, epigenetic, review

CLC Number:

Zhong-hua WANG, Shu-jin LI. Research Progress on Molecular Biology of Human Height Estimation[J]. Journal of Forensic Medicine, 2023, 39(5): 487-492.

Add to citation manager EndNote|Ris|BibTeX

URL: http://www.fyxzz.cn/EN/10.12116/j.issn.1004-5619.2022.520301

http://www.fyxzz.cn/EN/Y2023/V39/I5/487

References 48

1	朱波峰，孟昊天，兰琼. 我国人体表征分子鉴识研究的成果、挑战与展望[J].法医学杂志，2019，35（5）：507-511. doi：10.12116/j.issn.1004-5619.2019.05.001 .
	ZHU B F， MENG H T， LAN Q. Achievements， challenges and prospects of molecular forensic research on human body representation in China[J]. Fayixue Zazhi，2019，35（5）：507-511.
2	VISSCHER P M， MEDLAND S E， FERREIRA M A， et al. Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings[J]. PLoS Genet，2006，2（3）：e41. doi：10.1371/journal.pgen.0020041 .
3	TAMMEN S A， FRISO S， CHOI S W. Epigenetics： The link between nature and nurture[J]. Mol Aspects Med，2013，34（4）：753-764. doi：10. 1016/j.mam.2012.07.018 .
4	WOOD A R， ESKO T， YANG J， et al. Defining the role of common variation in the genomic and biological architecture of adult human height[J]. Nat Genet，2014，46（11）：1173-1186. doi：10.1038/ng.3097 .
5	YENGO L， SIDORENKO J， KEMPER K E， et al. Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry[J]. Hum Mol Genet，2018，27（20）：3641-3649. doi：10.1093/hmg/ddy271 .
6	CHEN M H， SIDORE C， AKIYAMA M， et al. Evidence of polygenic adaptation in Sardinia at height-associated loci ascertained from the biobank Japan[J]. Am J Hum Genet，2020，107（1）：60-71. doi：10.1016/j.ajhg.2020.05.014 .
7	CHEN M， CHIANG C W K. Allele frequency differentiation at height-associated SNPs among continental human populations[J]. Eur J Hum Genet，2021，29（10）：1542-1548. doi：10.1038/s41431-021-00938-2 .
8	ROBINSON M R， HEMANI G， MEDINA-GOMEZ C， et al. Population genetic differentiation of height and body mass index across Europe[J]. Nat Genet，2015，47（11）：1357-1362. doi：10.1038/ng.3401 .
9	MAROULI E， GRAFF M， MEDINA-GOMEZ C， et al. Rare and low-frequency coding variants alter human adult height[J]. Nature，2017，542（7640）：186-190. doi：10.1038/nature21039 .
10	AKIYAMA M， ISHIGAKI K， SAKAUE S， et al. Characterizing rare and low-frequency height-associated variants in the Japanese population[J]. Nat Commun，2019，10（1）：4393. doi：10.1038/s41467-019-12276-5 .
11	BENONISDOTTIR S， ODDSSON A， HELGA-SON A， et al. Epigenetic and genetic components of height regulation[J]. Nat Commun，2016，7：13490. doi：10.1038/ncomms13490 .
12	LIN E， TSAI S J， KUO P H， et al. Genome-wide association study in the Taiwan Biobank identifies four novel genes for human height： NABP2， RASA2， RNF41 and SLC39A5 [J]. Hum Mol Genet，2021，30（23）：2362-2369. doi：10.1093/hmg/ddab202 .
13	HE M， XU M， ZHANG B， et al. Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci[J]. Hum Mol Genet，2015，24（6）：1791-1800. doi：10.1093/hmg/ddu583 .
14	GRAFF M， JUSTICE A E， YOUNG K L， et al. Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry[J]. Am J Hum Genet，2021，108（4）：564-582. doi：10.1016/j.ajhg.2021.02.011 .
15	CHO H W， JIN H S， EOM Y B. A genome-wide association study of novel genetic variants associated with anthropometric traits in koreans[J]. Front Genet，2021，12：669215. doi：10.3389/fgene.2021.669215 .
16	WOJCIK G L， GRAFF M， NISHIMURA K K， et al. Genetic analyses of diverse populations improves discovery for complex traits[J]. Nature，2019，570（7762）：514-518. doi：10.1038/s41586-019-1310-4 .
17	YENGO L， VEDANTAM S， MAROULI E， et al. A saturated map of common genetic variants associated with human height[J]. Nature，2022，610（7933）：704-712. doi：10.1038/s41586-022-05275-y .
18	TACHMAZIDOU I， SÜVEGES D， MIN J L， et al. Whole-genome sequencing coupled to imputation discovers genetic signals for anthropometric traits[J]. Am J Hum Genet，2017，100（6）：865-884. doi：10.1016/j.ajhg.2017.04.014 .
19	LIU S Y， HUANG S J， CHEN F， et al. Genomic analyses from non-invasive prenatal testing reveal genetic associations， patterns of viral infections， and Chinese population history[J]. Cell，2018，175（2）：347-359.e14. doi：10.1016/j.cell.2018.08.016 .
20	HELLENTHAL G， BUSBY G B J， BAND G， et al. A genetic atlas of human admixture history[J]. Science，2014，343（6172）：747-751. doi：10.1126/scie nce.1243518 .
21	PETER B M， PETKOVA D， NOVEMBRE J. Genetic landscapes reveal how human genetic diversity aligns with geography[J]. Mol Biol Evol，2019，37（4）：943-951. doi：10.1093/molbev/msz280 .
22	MARTIN A R， KANAI M， KAMATANI Y， et al. Clinical use of current polygenic risk scores may exacerbate health disparities[J]. Nat Genet，2019，51（4）：584-591. doi：10.1038/s41588-019-0379-x .
23	WANG Y， GUO J， NI G， et al. Theoretical and empirical quantification of the accuracy of polygenic scores in ancestry divergent populations[J]. Nat Commun，2020，11（1）：3865. doi：10.1038/s41467-020-17719-y .
24	GUO J， BAKSHI A， WANG Y， et al. Quantifying genetic heterogeneity between continental populations for human height and body mass index[J]. Sci Rep，2021，11（1）：5240. doi：10.1038/s41598-021-84739-z .
25	WU Y， ZHENG Z， VISSCHER P M， et al. Quantifying the mapping precision of genome-wide association studies using whole-genome sequencing data[J]. Genome Biol，2017，18（1）：86. doi：10.1186/s13059-017-1216-0 .
26	MACÉ A， TUKE M A， DEELEN P， et al. CNV-association meta-analysis in 191，161 European adults reveals new loci associated with anthropometric traits[J]. Nat Commun，2017，8（1）：744. doi：10.1038/s41467-017-00556-x .
27	MUKAMEL R E， HANDSAKER R E， SHERMAN M A， et al. Protein-coding repeat polymorphisms strongly shape diverse human phenotypes[J]. Science，2021，373（6562）：1499-1505. doi：10.1126/science.abg8289 .
28	BEYTER D， INGIMUNDARDOTTIR H， ODD-SSON A， et al. Long-read sequencing of 3，622 Icelanders provides insight into the role of structural variants in human diseases and other traits[J]. Nat Genet，2021，53（6）：779-786. doi：10.1038/s41588-021-00865-4 .
29	MIN J L， HEMANI G， HANNON E， et al. Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation[J]. Nat Genet，2021，53（9）：1311-1321. doi：10.1038/s41588-021-00923-x .
30	RELTON C L， GROOM A， POURCAIN B ST， et al. DNA methylation patterns in cord blood DNA and body size in childhood[J]. PLoS One，2012，7（3）：e31821. doi：10.1371/journal.pone.0031821 .
31	SIMEONE P， ALBERTI S. Epigenetic heredity of human height[J]. Physiol Rep，2014，2（6）：e12047. doi：10.14814/phy2.12047 .
32	OUNI M， BELOT M P， CASTELL A L， et al. The P2 promoter of the IGF₁ gene is a major epigenetic locus for GH responsiveness[J]. Pharmacogenomics J，2016，16（1）：102-106. doi：10.1038/tpj. 2015.26 .
33	OUNI M， GUNES Y， BELOT M P， et al. The IGF₁ P2 promoter is an epigenetic QTL for circulating IGF₁ and human growth[J]. Clin Epigenetics，2015，7：22. doi：10.1186/s13148-015-0062-8 .
34	OUNI M， CASTELL A L， ROTHENBUHLER A， et al. Higher methylation of the IGF₁ P2 promoter is associated with idiopathic short stature[J]. Clin Endocrinol （Oxf），2016，84（2）：216-221. doi：10.1111/ cen.12867 .
35	MUURINEN M， HANNULA-JOUPPI K， REINIUS L E， et al. Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children[J]. Sci Rep，2017，7（1）：15693. doi：10.1038/s41598-017-16070-5 .
36	TATTON-BROWN K， SEAL S， RUARK E， et al. Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability[J]. Nat Genet，2014，46（4）：385-388. doi：10.1038/ng.2917 .
37	TATTON-BROWN K， LOVEDAY C， YOST S， et al. Mutations in epigenetic regulation genes are a major cause of overgrowth with intellectual disability[J]. Am J Hum Genet，2017，100（5）：725-736. doi：10.1016/j.ajhg.2017.03.010 .
38	JURKOWSKA R Z， JURKOWSKI T P， JELTSCH A. Structure and function of mammalian DNA methyltransferases[J]. Chembiochem，2011，12（2）：206-222. doi：10.1002/cbic.201000195 .
39	GRAFODATSKAYA D， CHUNG B H， BUTCHER D T， et al. Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C[J]. BMC Med Genomics，2013，6：1. doi：10.1186/1755-8794-6-1 .
40	UCHIYAMA R， KUPKOVA K， SHETTY S J， et al. Histone H3 lysine 4 methylation signature associated with human undernutrition[J]. PNAS，2018，115（48）：E11264-E11273. doi：10.1073/pnas.1722125115 .
41	TATTON-BROWN K， HANKS S， RUARK E， et al. Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height[J]. Oncotarget，2011，2（12）：1127-1133. doi：10.18632/oncotarget.385 .
42	LUI J C， GARRISON P， NGUYEN Q， et al. EZH1 and EZH2 promote skeletal growth by repressing inhibitors of chondrocyte proliferation and hypertrophy[J]. Nat Commun，2016，7：13685. doi：10.1038/ncomms13685 .
43	COHEN A S， YAP D B， LEWIS M E， et al. Weaver syndrome-associated EZH2 protein variants show impaired histone methyltransferase function in vitro [J]. Hum Mutat，2016，37（3）：301-307. doi：10.1002/humu.22946 .
44	CAO R， ZHANG Y. The functions of E（Z）/EZH2-mediated methylation of lysine 27 in histone H3[J]. Curr Opin Genet Dev，2004，14（2）：155-164. doi：10.1016/j.gde.2004.02.001 .
45	VIRÉ E， BRENNER C， DEPLUS R， et al. The polycomb group protein EZH2 directly controls DNA methylation[J]. Nature，2006，439（7078）：871-874. doi：10.1038/nature04431 .
46	PARÉ G， MAO S， DENG W Q. A machine-learning heuristic to improve gene score prediction of polygenic traits[J]. Sci Rep，2017，7（1）：12665. doi：10.1038/s41598-017-13056-1 .
47	LLOYD-JONES L R， ZENG J， SIDORENKO J， et al. Improved polygenic prediction by Bayesian multiple regression on summary statistics[J]. Nat Commun，2019，10（1）：5086. doi：10.1038/s41467-019- 12653-0 .
48	LELLO L， AVERY S G， TELLIER L， et al. Accurate genomic prediction of human height[J]. Genetics，2018，210（2）：477-497. doi：10.1534/genetics. 118.301267 .

[1]	Xin-ying WANG, Jia-li ZHANG, Ping XIANG, Xin WANG. Research Progress on Hair Metabolomics and Its Application in Forensic Science [J]. Journal of Forensic Medicine, 2026, 42(1): 49-55.
[2]	Yi-hua SUN, Jian CHEN, Yong-sheng LI. Comparison of the Forensic Testing Performance of Six STR Kits [J]. Journal of Forensic Medicine, 2026, 42(1): 26-33.
[3]	Qiong JIA, Kai-jun JIN, Shi-qi LIU, Yi-meng ZHANG, Yun-le MENG, Hao NIE, Sheng HU, Fan YANG, Xing-chun ZHAO, Jian YE. Research Progress on the Methodological System for Decomposition Stage Classification in Forensic Medicine [J]. Journal of Forensic Medicine, 2026, 42(1): 34-42.
[4]	Xin NIU, Zhe CAO. Forensic Significance of Mesenteric Injury in Child Abuse Cases [J]. Journal of Forensic Medicine, 2026, 42(1): 43-48.
[5]	Ya-ning SUN, Dan-yang LI, Qing XIA, Yan GAO, Zong-shi XU, Wen-tao XIA, Hui-ming ZHOU, Xiao-meng HAN, Xiao-ying YU, Yan-liang SHENG. Frontiers and Perspectives of Artificial Intelligence in Forensic Research on CT Imaging Diagnosis of Rib Fractures [J]. Journal of Forensic Medicine, 2025, 41(6): 593-600.
[6]	Ning-guo LIU. Innovative Development and Future Prospects in Forensic Pathology [J]. Journal of Forensic Medicine, 2025, 41(6): 517-530.
[7]	Hu ZHAO. Current Status and Challenges of Forensic Psychiatry Research [J]. Journal of Forensic Medicine, 2025, 41(6): 531-536.
[8]	. Precision Identification from a Multi-omics Perspective： Current Status， Challenges， and Prospects in Forensic Genetics ZHU Bo-feng [J]. Journal of Forensic Medicine, 2025, 41(5): 421-440.
[9]	Han ZHANG, Xin HUANG, An-qi CHEN, Ji CHEN, Yan-fang LU, Jian-ye ZENG, Xiang WANG. Skin Microbiome： Expanding Dimensions and Challenges in Forensic Evidence [J]. Journal of Forensic Medicine, 2025, 41(5): 443-455.
[10]	Yan GAO, Fang CHEN, Wen-tao XIA, Xiao-ping YANG, Ze-yu WANG, Ze-ren YANG, Xia LIU, Yan-liang SHENG. Research Progress of Chirp ABR and Its Application in Forensic Auditory Identification [J]. Journal of Forensic Medicine, 2025, 41(4): 387-393.
[11]	Yi-ming TIAN, Yi-bo YAN, Di WEN, Yan SHI. Research Progress on the Application of Novel Functional Materials for Rapid Detection of New Psychoactive Substances [J]. Journal of Forensic Medicine, 2025, 41(4): 314-325.
[12]	Jing CHEN, Ya-ping WANG, Yun-peng FENG, Xiao-xin HU, Zhen-jun JIA, Hong-di LIU, An-xin YAN, Yong-jiu LI, Zhu PENG, Zhi-fang LIU, Jian-gang CHEN. Validation and Forensic Application of a Domestic Human DNA Quantitative Detection Kit [J]. Journal of Forensic Medicine, 2025, 41(3): 252-259.
[13]	Ze-qin LI, Fang YUAN, Na LIU, Jiang-wei YAN, Geng-qian ZHANG. Dental Floss-derived Biological Sample Collection， DNA Extraction and STR Typing [J]. Journal of Forensic Medicine, 2025, 41(3): 237-243.
[14]	Bao-yan XIE, Ruo-cheng XIA, Ting-ting JIANG, Rui-yang TAO, Cheng-tao LI. Bibliometric and Visual Analysis of Forensic Research on Body Fluid Identification [J]. Journal of Forensic Medicine, 2025, 41(3): 217-227.
[15]	Yi-fan BAI, He-miao ZHAO, Jing CHEN, Hong-di LIU, Rui-qin YANG, Chong WANG. Application of Forensic Transcriptomics in the Identification of Tissue Origin of Body Fluid Stains [J]. Journal of Forensic Medicine, 2025, 41(3): 260-266.