Genetic analysis of hyperemesis gravidarum reveals association with intracellular calcium release channel (RYR2)

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• 作者：Marlena Schoenberg Fejzo^a ; ^b ; ^{mfejzo@mednet.ucla.edu} ; Ronny Myhre^c ; Lucí ; a Colodro-Conde^d ; Kimber W. MacGibbon^e ; Janet S. Sinsheimer^f ; M.V. Prasad Linga Reddy^g ; Pä ; ivi Pajukanta^g ; Dale R. Nyholt^h ; Margaret J. Wrightⁱ ; Nicholas G. Martin^j ; Stephanie M. Engel^k ; Sarah E. Medland^d ; Per Magnus^c ; Patrick M. Mullin^b
• 关键词：Hyperemesis gravidarum ; Nausea ; Vomiting ; Pregnancy ; RYR2
• 刊名：Molecular and Cellular Endocrinology
• 出版年：2017
• 出版时间：5 January 2017
• 年：2017
• 卷：439
• 期：Complete
• 页码：308-316
• 全文大小：1082 K
• 卷排序：439

文摘

Whole-exome sequencing in Hyperemesis Gravidarum (HG) identifies link to RYR2. Novel variant L3277R segregates with disease in large HG family. US genotyping, and Norwegian and Australian GWAS support link to G1886S in RYR2. RYR2 deletion identified in severe case treated with total parenteral nutrition. Common variants rs790899 and rs1891246 significantly associated with weight loss.