Meta-analysis identifies a MECOM gene as a novel predisposing factor of osteoporotic fracture

Joo Yeon Hwang, Seung Hun Lee, Min Jin Go, Beom Jun Kim, Ikuyo Kou, Shiro Ikegawa, Yan Guo, Hong Wen Deng, Soumya Raychaudhuri, Young Jin Kim, Ji Hee Oh, Youngdoe Kim, Sanghoon Moon, Dong Joon Kim, Heejo Koo, My Jung Cha, Min Hye Lee, Ji Young Yun, Hye Sook Yoo, Young Ah KangEun Hee Cho, Sang Wook Kim, Ki Won Oh, Moo Il Kang, Ho Young Son, Shin Yoon Kim, Ghi Su Kim, Bok Ghee Han, Yoon Shin Cho, Myeong Chan Cho, Jong Young Lee, Jung Min Koh

    Research output: Contribution to journalArticlepeer-review


    Background: Osteoporotic fracture (OF) as a clinical endpoint is a major complication of osteoporosis. To screen for OF susceptibility genes, we performed a genome-wide association study and carried out de novo replication analysis of an East Asian population. Methods: Association was tested using a logistic regression analysis. A meta-analysis was performed on the combined results using effect size and standard errors estimated for each study. Results: In a combined meta-analysis of a discovery cohort (288 cases and 1139 controls), three hospital based sets in replication stage I (462 cases and 1745 controls), and an independent ethnic group in replication stage II (369 cases and 560 for controls), we identified a new locus associated with OF (rs784288 in the MECOM gene) that showed genome-wide significance (p=3.59×10-8; OR 1.39). RNA interference revealed that a MECOM knockdown suppresses osteoclastogenesis. Conclusions: Our findings provide new insights into the genetic architecture underlying OF in East Asians.
    Original languageEnglish
    Pages (from-to)212-219
    Number of pages7
    JournalJournal of Medical Genetics
    Issue number4
    Publication statusPublished - 2013


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