Common dysfunctional variants in ABCG2 are a major cause of early-onset gout

Hirotaka Matsuo; Kimiyoshi Ichida; Tappei Takada; Akiyoshi Nakayama; Hiroshi Nakashima; Takahiro Nakamura; Yusuke Kawamura; Yuzo Takada; Ken Yamamoto; Hiroki Inoue; Yuji Oikawa; Mariko Naito; Asahi Hishida; Kenji Wakai; Chisa Okada; Seiko Shimizu; Masayuki Sakiyama; Toshinori Chiba; Hiraku Ogata; Kazuki Niwa; Makoto Hosoyamada; Atsuyoshi Mori; Nobuyuki Hamajima; Hiroshi Suzuki; Yoshikatsu Kanai; Yutaka Sakurai; Tatsuo Hosoya; Toru Shimizu; Nariyoshi Shinomiya

doi:10.1038/srep02014

Common dysfunctional variants in ABCG2 are a major cause of early-onset gout

Hirotaka Matsuo, Kimiyoshi Ichida, Tappei Takada, Akiyoshi Nakayama, Hiroshi Nakashima, Takahiro Nakamura, Yusuke Kawamura, Yuzo Takada, Ken Yamamoto, Hiroki Inoue, Yuji Oikawa, Mariko Naito, Asahi Hishida, Kenji Wakai, Chisa Okada, Seiko Shimizu, Masayuki Sakiyama, Toshinori Chiba, Hiraku Ogata, Kazuki NiwaMakoto Hosoyamada, Atsuyoshi Mori, Nobuyuki Hamajima, Hiroshi Suzuki, Yoshikatsu Kanai, Yutaka Sakurai, Tatsuo Hosoya, Toru Shimizu, Nariyoshi Shinomiya

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121 Citations (Scopus)

Abstract

Gout is a common disease which mostly occurs after middle age, but more people nowadays develop it before the age of thirty. We investigated whether common dysfunction of ABCG2, a high-capacity urate transporter which regulates serum uric acid levels, causes early-onset gout. 705 Japanese male gout cases with onset age data and 1,887 male controls were genotyped, and the ABCG2 functions which are estimated by its genotype combination were determined. The onset age was 6.5â.years earlier with severe ABCG2 dysfunction than with normal ABCG2 function (P = 6.14 × 10-3). Patients with mild to severe ABCG2 dysfunction accounted for 88.2% of early-onset cases (twenties or younger). Severe ABCG2 dysfunction particularly increased the risk of early-onset gout (odds ratio 22.2, P = 4.66 × 10-6). Our finding that common dysfunction of ABCG2 is a major cause of early-onset gout will serve to improve earlier prevention and therapy for high-risk individuals.

Original language	English
Article number	2014
Journal	Scientific reports
Volume	3
DOIs	https://doi.org/10.1038/srep02014
Publication status	Published - 2013
Externally published	Yes

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Matsuo, H., Ichida, K., Takada, T., Nakayama, A., Nakashima, H., Nakamura, T., Kawamura, Y., Takada, Y., Yamamoto, K., Inoue, H., Oikawa, Y., Naito, M., Hishida, A., Wakai, K., Okada, C., Shimizu, S., Sakiyama, M., Chiba, T., Ogata, H., ... Shinomiya, N. (2013). Common dysfunctional variants in ABCG2 are a major cause of early-onset gout. Scientific reports, 3, Article 2014. https://doi.org/10.1038/srep02014

@article{eeaef8213f454872b4efa4eb43b3c37b,

title = "Common dysfunctional variants in ABCG2 are a major cause of early-onset gout",

abstract = "Gout is a common disease which mostly occurs after middle age, but more people nowadays develop it before the age of thirty. We investigated whether common dysfunction of ABCG2, a high-capacity urate transporter which regulates serum uric acid levels, causes early-onset gout. 705 Japanese male gout cases with onset age data and 1,887 male controls were genotyped, and the ABCG2 functions which are estimated by its genotype combination were determined. The onset age was 6.5{\^a}.years earlier with severe ABCG2 dysfunction than with normal ABCG2 function (P = 6.14 × 10-3). Patients with mild to severe ABCG2 dysfunction accounted for 88.2\% of early-onset cases (twenties or younger). Severe ABCG2 dysfunction particularly increased the risk of early-onset gout (odds ratio 22.2, P = 4.66 × 10-6). Our finding that common dysfunction of ABCG2 is a major cause of early-onset gout will serve to improve earlier prevention and therapy for high-risk individuals.",

author = "Hirotaka Matsuo and Kimiyoshi Ichida and Tappei Takada and Akiyoshi Nakayama and Hiroshi Nakashima and Takahiro Nakamura and Yusuke Kawamura and Yuzo Takada and Ken Yamamoto and Hiroki Inoue and Yuji Oikawa and Mariko Naito and Asahi Hishida and Kenji Wakai and Chisa Okada and Seiko Shimizu and Masayuki Sakiyama and Toshinori Chiba and Hiraku Ogata and Kazuki Niwa and Makoto Hosoyamada and Atsuyoshi Mori and Nobuyuki Hamajima and Hiroshi Suzuki and Yoshikatsu Kanai and Yutaka Sakurai and Tatsuo Hosoya and Toru Shimizu and Nariyoshi Shinomiya",

year = "2013",

doi = "10.1038/srep02014",

language = "English",

volume = "3",

journal = "Scientific reports",

issn = "2045-2322",

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Matsuo, H, Ichida, K, Takada, T, Nakayama, A, Nakashima, H, Nakamura, T, Kawamura, Y, Takada, Y, Yamamoto, K, Inoue, H, Oikawa, Y, Naito, M, Hishida, A, Wakai, K, Okada, C, Shimizu, S, Sakiyama, M, Chiba, T, Ogata, H, Niwa, K, Hosoyamada, M, Mori, A, Hamajima, N, Suzuki, H, Kanai, Y, Sakurai, Y, Hosoya, T, Shimizu, T & Shinomiya, N 2013, 'Common dysfunctional variants in ABCG2 are a major cause of early-onset gout', Scientific reports, vol. 3, 2014. https://doi.org/10.1038/srep02014

TY - JOUR

T1 - Common dysfunctional variants in ABCG2 are a major cause of early-onset gout

AU - Matsuo, Hirotaka

AU - Ichida, Kimiyoshi

AU - Takada, Tappei

AU - Nakayama, Akiyoshi

AU - Nakashima, Hiroshi

AU - Nakamura, Takahiro

AU - Kawamura, Yusuke

AU - Takada, Yuzo

AU - Yamamoto, Ken

AU - Inoue, Hiroki

AU - Oikawa, Yuji

AU - Naito, Mariko

AU - Hishida, Asahi

AU - Wakai, Kenji

AU - Okada, Chisa

AU - Shimizu, Seiko

AU - Sakiyama, Masayuki

AU - Chiba, Toshinori

AU - Ogata, Hiraku

AU - Niwa, Kazuki

AU - Hosoyamada, Makoto

AU - Mori, Atsuyoshi

AU - Hamajima, Nobuyuki

AU - Suzuki, Hiroshi

AU - Kanai, Yoshikatsu

AU - Sakurai, Yutaka

AU - Hosoya, Tatsuo

AU - Shimizu, Toru

AU - Shinomiya, Nariyoshi

PY - 2013

Y1 - 2013

N2 - Gout is a common disease which mostly occurs after middle age, but more people nowadays develop it before the age of thirty. We investigated whether common dysfunction of ABCG2, a high-capacity urate transporter which regulates serum uric acid levels, causes early-onset gout. 705 Japanese male gout cases with onset age data and 1,887 male controls were genotyped, and the ABCG2 functions which are estimated by its genotype combination were determined. The onset age was 6.5â.years earlier with severe ABCG2 dysfunction than with normal ABCG2 function (P = 6.14 × 10-3). Patients with mild to severe ABCG2 dysfunction accounted for 88.2% of early-onset cases (twenties or younger). Severe ABCG2 dysfunction particularly increased the risk of early-onset gout (odds ratio 22.2, P = 4.66 × 10-6). Our finding that common dysfunction of ABCG2 is a major cause of early-onset gout will serve to improve earlier prevention and therapy for high-risk individuals.

AB - Gout is a common disease which mostly occurs after middle age, but more people nowadays develop it before the age of thirty. We investigated whether common dysfunction of ABCG2, a high-capacity urate transporter which regulates serum uric acid levels, causes early-onset gout. 705 Japanese male gout cases with onset age data and 1,887 male controls were genotyped, and the ABCG2 functions which are estimated by its genotype combination were determined. The onset age was 6.5â.years earlier with severe ABCG2 dysfunction than with normal ABCG2 function (P = 6.14 × 10-3). Patients with mild to severe ABCG2 dysfunction accounted for 88.2% of early-onset cases (twenties or younger). Severe ABCG2 dysfunction particularly increased the risk of early-onset gout (odds ratio 22.2, P = 4.66 × 10-6). Our finding that common dysfunction of ABCG2 is a major cause of early-onset gout will serve to improve earlier prevention and therapy for high-risk individuals.

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U2 - 10.1038/srep02014

DO - 10.1038/srep02014

M3 - Article

C2 - 23774753

AN - SCOPUS:84879659544

SN - 2045-2322

VL - 3

JO - Scientific reports

JF - Scientific reports

M1 - 2014

ER -

Common dysfunctional variants in ABCG2 are a major cause of early-onset gout

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