Sains Malaysiana 53(10)(2024): 3327-3340

http://doi.org/10.17576/jsm-2024-5310-08

Analisis Tinjauan SistematikKesan Iklim dan Altitud Tinggi terhadap Variasi DNA Nuklear dan MitokondriaManusia

(Systematic Review Analysis of the Effect of Climate and High Altitude on Human Nuclear and Mitochondrial DNA Variations)

SHAHRUL HISHAM BIN ZAINAL ARIFFIN^1,*, LIM KOON SEANG¹, INTAN ZARINA ZAINOL ABIDIN², ROHAYA MEGAT ABDUL WAHAB³ & RAMZAH DAMBUL⁴

¹School of Bioscience and Biotechnology, Faculty of Science and Technology, Universiti Kebangsaan Malaysia, 43600 UKM Bangi, Selangor, Malaysia

²Department of Pharmaceutical Sciences, Faculty of Pharmacy, University of Cyberjaya, 63000 Cyberjaya, Selangor, Malaysia

³Department of Orthodontics, Faculty Dentistry, Universiti Kebangsaan Malaysia, 50300 Kuala Lumpur, Malaysia

⁴Faculty of Humanities, Arts and Heritage, Universiti Malaysia Sabah, 88400 Kota Kinabalu, Sabah, Malaysia

Diserahkan: 4 Jun 2024/Diterima: 12 Ogos 2024

Abstrak

Mutasi membolehkan manusia beradaptasi dengan perubahan persekitaran melalui proses pemilihan semula jadi, seterusnya menghasilkan variasi genetik. Perubahan iklim merupakan salah satu penyumbang penting dalam adaptasi dan evolusi manusia. Penyelidikan ini bertujuan untuk menilai secaratinjauan sistematik penemuan terkini mengenai kesan pelbagai faktor iklim ke atas variasi genetik manusia. Analisis tinjauan sistematik dijalankan mengikut garis panduan PRISMA dengan pencarian melibatkan kesemua artikel yang diterbitkan antara tahun 2014 hingga 2024 dari lima pangkalan data elektronik utama iaitu PubMed, Web of Science, Medline, Scopus dan ScienceDirect. Hasil tinjuan mendapati 15 artikel telah memenuhi kesemua kriteria dan dimasukkan dalam kajian ini. Hasil tinjauan juga menunjukkan faktor persekitaran seperti iklim sejuk (suhu -71.2 °C hingga 8.5 °C), iklim tropika, iklim sederhana dan altitud yang tinggi (>2500 m dari aras laut) telah membentuk variasi genetik dalam populasi manusia. Termoregulasi merupakan mekanisme penyesuaian utama dalam kajian melibatkan kesan iklim dan altitud tinggi terhadap genetik manusia. Terdapat10 gen nuklear iaitu UCP1, UCP2, UCP3, DIO2, FTO, PPARG, PPARGCIA, CIDEA, LEPR dan PRDM16 dikaitkan dengan termoregulasi, manakala5 gen mitokondria seperti MT-ND1, MT-ND2, MT-CYB, MT-ATP6, dan MT-ND5 terlibat dalam kajian penyesuaian iklim sejuk dan altitud tinggi. Gen UCP1 sering dilaporkan beradaptasi dengan iklim sejuk melalui termoregulasi, sementara5 gen mitokondria (MT-ND1, MT-ND2, MT-CYB, MT-ATP6 dan MT-ND5) pula beradaptasi dengan kedua-dua iklim sejuk dan altitud tinggi. Gen ini berpotensi untuk diaplikasikan dalam memahami mekanisme penyesuaian genetik manusia terhadap iklim.

Kata kunci: Adaptasi; DNA; genetik manusia; iklim

Abstract

Mutations enable humans to adapt to environmental changes through natural selection, resulting in genetic variation. Climate change is a significant driver of human adaptation and evolution. This study aims to systematically review recent findings on the impact of various climatic factors on human genetic variation. A systematic review analysis followed PRISMA guidelines, searching for all articles published between 2014 and 2024 in five major electronic databases: PubMed, Web of Science, Medline, Scopus, and ScienceDirect. The search yielded fifteen articles meeting all criteria and were included in this study. The findings indicate that environmental factors such as cold climates (temperatures ranging from -71.2 °C to 8.5 °C), tropical climates, temperate climates, and high altitudes (>2500 m above sea level) have shaped genetic variation in human populations. Thermoregulation emerged as a key adaptation mechanism in studies examining the effects of climate and high altitude on human genetics. 10 nuclear genes- UCP1, UCP2, UCP3, DIO2, FTO, PPARG, PPARGCIA, CIDEA, LEPR, and PRDM16 were associated with thermoregulation, while 5 mitochondrial genes- MT-ND1, MT-ND2, MT-CYB, MT-ATP6 and MT-ND5 were involved in adaptation to cold climates and high altitudes. UCP1 gene is frequently reported to adapt to cold climates through thermoregulation. In contrast, 5 mitochondrial genes (MT-ND1, MT-ND2, MT-CYB, MT-ATP6, and MT-ND5) adapt to both cold climates and high altitudes. These genes have potential applications in understanding the mechanisms of human genetic adaptation to climate.

Keywords: Adaptation; climate; DNA; human genetics

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*Pengarang untuk surat-menyurat; email: hisham@ukm.edu.my