Hillman Sara L, Dolma Padma
Institute for Women's Health, University College London Faculty of Population Health Sciences, London, UK.
Department of Obstetrics, Sonam Norboo Memorial Hospital, Leh, Jammu and Kashmir, India.
Philos Trans R Soc Lond B Biol Sci. 2025 Aug 21;380(1933):20240396. doi: 10.1098/rstb.2024.0396.
Leh, Ladakh, is situated at an altitude of more than 3500 metres above sea level (masl) and serves as a natural hypoxic environment for studying the effects of a low-oxygen environment on pregnancy. Over a 10 year collaboration, pregnant women in Leh were recruited and studied, alongside their partners and offspring at birth. The aim was to better elucidate underlying mechanisms that might both protect from, as well as predispose to, poor fetal growth. Phenotypic data were analysed alongside genomic data generated by the Infinium™ Global Screening Array-24 BeadChip. Patient records from low-altitude sites (Bylakuppe 850 m a.s.l) and Delhi (200 m) were compared with data from Leh. A cohort of 318 pregnant women in Ladakh were studied, with an average birthweight for those born at term of 3.15 kg. Compared with women who delivered an appropriate for gestational age (AGA) baby in Leh, those who delivered a small for gestational age (SGA) (<10th birth weight centile) were statistically older and lighter and had smaller maternal uterine artery diameters at 18-22 weeks of gestation. This difference was not maintained between AGA and SGA babies at low altitude in the Delhi cohort. Genetic analysis of Ladakh babies suggested a genetic history most closely related to neighbouring Tibeto-Burman-speaking populations and birth weight analysis replicated previous identified SNPs related to metabolic, skeletal and height genes, offering novel avenues of investigation.This article is part of the discussion meeting issue 'Pregnancy at high altitude: the challenge of hypoxia'.
拉达克的列城海拔超过3500米，是研究低氧环境对妊娠影响的天然低氧环境。在长达10年的合作中，招募了列城的孕妇及其伴侣和出生时的后代进行研究。目的是更好地阐明可能保护胎儿免受生长不良影响以及导致胎儿生长不良的潜在机制。对表型数据和由Infinium™全球筛选阵列-24芯片生成的基因组数据进行了分析。将来自低海拔地区（拜拉库佩海拔850米）和德里（海拔200米）的患者记录与列城的数据进行了比较。对拉达克的318名孕妇进行了研究，足月出生婴儿的平均出生体重为3.15千克。与在列城分娩适于胎龄（AGA）婴儿的女性相比，分娩小于胎龄（SGA）（出生体重低于第10百分位数）婴儿的女性在统计学上年龄更大、体重更轻，且在妊娠18至22周时母体子宫动脉直径更小。在德里队列的低海拔地区，AGA和SGA婴儿之间不存在这种差异。对拉达克婴儿的基因分析表明，其遗传史与相邻说藏缅语的人群最为密切相关，出生体重分析重现了先前确定的与代谢、骨骼和身高基因相关的单核苷酸多态性（SNP），提供了新的研究途径。本文是“高海拔妊娠：缺氧挑战”讨论会议题的一部分。
