{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T01:21:41Z","timestamp":1788916901831,"version":"build-2803163510"},"reference-count":44,"publisher":"Public Library of Science (PLoS)","issue":"9","license":[{"start":{"date-parts":[[2022,9,20]],"date-time":"2022-09-20T00:00:00Z","timestamp":1663632000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Wellcome Trust SEED trust award","award":["WT 109862\/Z\/15\/Z"],"award-info":[{"award-number":["WT 109862\/Z\/15\/Z"]}]},{"name":"UCL Global Health Challenges award"},{"name":"UCL Global Health Challenges award"},{"name":"Eden Travelling Fellowship"},{"name":"UK National Institute for Health Research\u2019s Comprehensive Biomedical Research Centre"},{"name":"UK National Institute for Health Research\u2019s Comprehensive Biomedical Research Centre"},{"name":"Government of Ireland Postdoctoral Fellowship from the Irish Research Council","award":["GOIPD\/2018\/408"],"award-info":[{"award-number":["GOIPD\/2018\/408"]}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:p>\n                    Pathological low birth weight due to fetal growth restriction (FGR) is an important predictor of adverse obstetric and neonatal outcomes. It is more common amongst native lowlanders when gestating in the hypoxic environment of high altitude, whilst populations who have resided at high altitude for many generations are relatively protected. Genetic study of pregnant populations at high altitude permits exploration of the role of hypoxia in FGR pathogenesis, and perhaps of FGR pathogenesis more broadly. We studied the umbilical cord blood DNA of 316 neonates born to pregnant women managed at the Sonam Norboo Memorial Hospital, Ladakh (altitude 3540m) between February 2017 and January 2019. Principal component, admixture and genome wide association studies (GWAS) were applied to dense single nucleotide polymorphism (SNP) genetic data, to explore ancestry and genetic predictors of low birth weight. Our findings support Tibetan ancestry in the Ladakhi population, with subsequent admixture with neighboring Indo-Aryan populations. Fetal growth protection was evident in Ladakhi neonates. Although no variants achieved genome wide significance, we observed nominal association of seven variants across genes (\n                    <jats:italic>ZBTB38<\/jats:italic>\n                    ,\n                    <jats:italic>ZFP36L2<\/jats:italic>\n                    ,\n                    <jats:italic>HMGA2<\/jats:italic>\n                    ,\n                    <jats:italic>CDKAL1<\/jats:italic>\n                    ,\n                    <jats:italic>PLCG1)<\/jats:italic>\n                    previously associated with birthweight.\n                  <\/jats:p>","DOI":"10.1371\/journal.pone.0269671","type":"journal-article","created":{"date-parts":[[2022,9,20]],"date-time":"2022-09-20T13:35:45Z","timestamp":1663680945000},"page":"e0269671","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":9,"title":["Population history and genome wide association studies of birth weight in a native high altitude Ladakhi population"],"prefix":"10.1371","volume":"17","author":[{"given":"Sushil","family":"Bhandari","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Padma","family":"Dolma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitali","family":"Mukerji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhavana","family":"Prasher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugh","family":"Montgomery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8489-7158","authenticated-orcid":true,"given":"Dalvir","family":"Kular","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vandana","family":"Jain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vatsla","family":"Dadhwal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aniket","family":"Bhattacharyaa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edmund","family":"Gilbert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianpiero L.","family":"Cavalleri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2971-6865","authenticated-orcid":true,"given":"Sara L.","family":"Hillman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2022,9,20]]},"reference":[{"key":"pone.0269671.ref001","doi-asserted-by":"crossref","first-page":"e1002717","DOI":"10.1371\/journal.pmed.1002717","article-title":"Small for gestational age and risk of childhood 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