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In the past, several genome-wide association studies (GWAS) have collectively identified hundreds of genetic variants having a putative effect on determining adult height in different worldwide populations. Theoretically, a valuable approach to better understand the mechanisms of complex traits as adult height is to study a population exhibiting extreme stature phenotypes, such as African Baka Pygmies. After phenotypic characterization, we sequenced the whole exomes of a cohort of Baka Pygmies and their non-Pygmies Bantu neighbors to highlight genetic variants associated with the reduced stature. Whole exome data analysis revealed 29 single nucleotide polymorphisms (SNPs) significantly associated with the reduced height in the Baka group. Among these variants, we focused on SNP rs7629425, located in the 5\u2032-UTR of the Hyaluronidase-2 (<jats:italic>HYAL2<\/jats:italic>) gene. The frequency of the alternative allele was significantly increased compared to African and non-African populations. In vitro luciferase assay showed significant differences in transcription modulation by rs7629425 C\/T alleles. In conclusion, our results suggested that the <jats:italic>HYAL2<\/jats:italic> gene variants may play a role in the etiology of short stature in Baka Pygmies population.\n<\/jats:p>","DOI":"10.1007\/s00439-020-02191-x","type":"journal-article","created":{"date-parts":[[2020,6,24]],"date-time":"2020-06-24T08:02:31Z","timestamp":1592985751000},"page":"1471-1483","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Identification of novel genetic variants associated with short stature in a Baka Pygmies population"],"prefix":"10.1007","volume":"139","author":[{"given":"Matteo","family":"Zoccolillo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Moia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio","family":"Comincini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Cittaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dejan","family":"Lazarevic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen A.","family":"Pisani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan M.","family":"Wit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauro","family":"Bozzola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,6,24]]},"reference":[{"key":"2191_CR1","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1159\/000455850","volume":"88","author":"AC Andrade","year":"2017","unstructured":"Andrade AC, Jee YH, Nilsson O (2017) New genetic diagnoses of short stature provide insights into local regulation of childhood growth. 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Nat Genet 46:1173\u20131186. https:\/\/doi.org\/10.1038\/ng.3097","journal-title":"Nat Genet"},{"key":"2191_CR35","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1111\/j.1469-1809.1949.tb02451.x","volume":"15","author":"S Wright","year":"1951","unstructured":"Wright S (1951) The genetical structure of populations. Ann Eugen 15:323\u2013354. https:\/\/doi.org\/10.1111\/j.1469-1809.1949.tb02451.x","journal-title":"Ann Eugen"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-020-02191-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00439-020-02191-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-020-02191-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,24]],"date-time":"2021-06-24T01:07:43Z","timestamp":1624496863000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00439-020-02191-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,24]]},"references-count":35,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["2191"],"URL":"https:\/\/doi.org\/10.1007\/s00439-020-02191-x","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6,24]]},"assertion":[{"value":"1 April 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 May 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 June 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"All authors declare absence of interest conflicts.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Since there was no ethical committee in the Reserves of Dja and Lobo to request authorization for research studies on local populations, signed informed consent to participation in the study was requested directly to enrolled adult subjects both Baka Pygmies and Bantu. The authorization to carry out these population studies followed all recommendations of the Helsinki Convention, and then was approved by the Research Ethics Committee of the University of Pavia (Protocol no. 5\/2007 on November 20 2007).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}