Article
Genetic regulation across germline and somatic variation on the Y chromosome contributes to type 2 diabetes.
Nature medicine - 1 Mar 2026
Sato Go, Yamamoto Yuji, Sonehara Kyuto, Saiki Ryunosuke, Ojima Takafumi, Kanai Masahiro, Liu Aoxing, Edahiro Ryuya, Shirai Yuya, Namba Shinichi, Namkoong Ho, Hasaegawa Takanori, Koyanagi Yuriko N, Kasugai Yumiko, Yamaji Taiki, Nakano Shiori, Genovese Giulio, Sipilä Timo P, Ghazal Awaisa, Tanaka Hiromu, Azekawa Shuhei, Uwamino Yoshifumi, Yamamoto Kenichi, Suzuki Ken, Hata Tsuyoshi, Uemura Mamoru, Takeda Yoshito, Kanai Akinori, Higashiue Shinichi, Kobayashi Shuzo, Afuso Hisaaki, Matsuura Kosho, Mitsumoto Yojiro, Fujita Yasuhiko, Oda Yoshiya, Suzuki Yutaka, Morisaki Takayuki, Ishii Makoto, Kitagawa Yuko, Koike Ryuji, Kimura Akinori, Imoto Seiya, Miyano Satoru, Kanai Takanori, Takayama Jun, Iwasaki Motoki, Sawada Norie, Fukunaga Koichi, Matsuo Keitaro, Kumanogoh Atsushi, Doki Yuichiro, Eguchi Hidetoshi, Nakagome Shigeki, Tamiya Gen, Ganna Andrea, Palotie Aarno, Daly Mark J, Wilson James F, Yamamoto Masayuki, Matsuda Koichi, Ogawa Seishi, Yamauchi Toshimasa, Kadowaki Takashi, Okada Yukinori
Abstract excerpt
Our understanding of the biological role of the Y chromosome remains limited. Here, we systematically profile germline Y haplogroups and somatic loss of the Y chromosome (LOY) in 122,683 East Asian males from BioBank Japan and 181,472 European males from the UK Biobank. A phenome-wide scan uncovers male-specific genetic regulation of complex traits, including pleiotropic effects of the Japanese-specific...
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