The Contribution of Genetic Variants of the Peroxisome Proliferator-Activated Receptor-Alpha Gene to High-Altitude Hypoxia Adaptation in Sherpa Highlanders.

IF 1.6 4区 医学 Q4 BIOPHYSICS High altitude medicine & biology Pub Date : 2023-09-01 Epub Date: 2018-11-22 DOI:10.1089/ham.2018.0052
Fumiya Kinota, Yunden Droma, Nobumitsu Kobayashi, Toshimichi Horiuchi, Yoshiaki Kitaguchi, Masanori Yasuo, Masao Ota, Masayuki Hanaoka
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引用次数: 7

Abstract

Kinota, Fumiya, Yunden Droma, Nobumitsu Kobayashi, Toshimichi Horiuchi, Yoshiaki Kitaguchi, Masanori Yasuo, Masao Ota, and Masayuki Hanaoka. The contribution of genetic variants of the gene encoding peroxisome proliferator-activated receptor-alpha gene (PPARA) to high-altitude hypoxia adaptation in Sherpa highlanders. High Alt Med Biol. 24:186-192, 2023.-Sherpa highlanders, who play invaluable roles in the exploration of Mount Everest, have exceptional tolerance to hypobaric hypoxia. Sherpa people are well known to possess the traits determined by genetic background for high-altitude adaptation. The metabolic adaptation mechanism is one of the biological ways for Sherpa highlanders in protecting them from hypoxia stress at high altitude. Studies have suggested that the gene encoding PPARA is associated with metabolic adaptation in the Himalayan population of Tibetans. This study attempts to investigate the genetic variants of the PPARA in Sherpa highlanders and the association with high-altitude hypoxia adaptation. Seven single-nucleotide polymorphisms (SNPs; rs135547, rs5769178, rs881740, rs4253712, rs5766741, and rs5767700 in introns and rs1800234 in exon 6) in the PPARA were genotyped in 105 Sherpa highlanders who lived in the Khumbu region (3440 m above sea level) and 111 non-Sherpa lowlanders who resided in Kathmandu (1300 m) in Nepal. By means of analyses of genetic distances, genotype distributions, allele frequencies, linkage disequilibrium, and haplotype constructions of the seven SNPs in the Sherpa highlanders versus the non-Sherpa lowlanders, it was revealed that the frequencies of minor alleles of rs4253712, rs5766741, rs5767700, and rs1800234 SNPs, as well as the frequency of haplotype constructed by the minor alleles of rs5766741-rs5767700-rs1800234, were significantly overrepresented in the Sherpa highlanders in comparison with the non-Sherpa lowlanders. The results strongly suggest that the genetic variants of the PPARA are likely to contribute to the high-altitude adaptation in Sherpa highlanders.

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过氧化物酶体增殖因子激活受体α基因的遗传变异对夏尔巴高原人高原低氧适应的贡献。
Kinota、Fumiya、Yunden Droma、Nobumitsu Kobayashi、Toshimichi Horiuchi、Yoshiaki Kitaguchi、Masanori Yaso、Masao Ota和Masayuki Hanaoka。编码过氧化物酶体增殖物激活受体α基因(PPARA)的基因变异对夏尔巴高原人高空缺氧适应的贡献。High Alt-Med Biol.24:186-1922023。夏尔巴高原人在珠峰探险中发挥着宝贵的作用,他们对低压缺氧有着非凡的耐受能力。众所周知,夏尔巴人具有由遗传背景决定的高海拔适应特征。代谢适应机制是夏尔巴高原人保护其免受高海拔缺氧应激的生物学途径之一。研究表明,编码PPARA的基因与喜马拉雅藏族人群的代谢适应有关。本研究试图探讨夏尔巴高原人PPARA的遗传变异及其与高原低氧适应的关系。PPARA中的7个单核苷酸多态性(SNPs;内含子中的rs135547、rs5769178、rs881740、rs4253712、rs5766741和rs5767700,外显子6中的rs1800234)在居住在昆布地区的105名夏尔巴高地人(3440 海拔米)和居住在加德满都的111名非夏尔巴低地人(1300 m) 在尼泊尔。通过对夏尔巴高地人和非夏尔巴低地人7个SNPs的遗传距离、基因型分布、等位基因频率、连锁不平衡和单倍型结构的分析,发现rs4253712、rs5766741、rs5767700和rs1800234 SNPs的次要等位基因的频率,以及由rs5766741-rs5767700-rs1800234的次要等位基因构建的单倍型的频率在夏尔巴高地人中与非夏尔巴低地人相比显著过高。研究结果强烈表明,PPARA的基因变异可能有助于夏尔巴高地人的高海拔适应。
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来源期刊
High altitude medicine & biology
High altitude medicine & biology 医学-公共卫生、环境卫生与职业卫生
CiteScore
3.80
自引率
9.50%
发文量
44
审稿时长
>12 weeks
期刊介绍: High Altitude Medicine & Biology is the only peer-reviewed journal covering the medical and biological issues that impact human life at high altitudes. The Journal delivers critical findings on the impact of high altitude on lung and heart disease, appetite and weight loss, pulmonary and cerebral edema, hypertension, dehydration, infertility, and other diseases. It covers the full spectrum of high altitude life sciences from pathology to human and animal ecology.
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