Next-generation sequencing of the whole MEFV gene in Japanese patients with familial Mediterranean fever: a case-control association study

Next-generation sequencing of the whole MEFV gene in Japanese patients with familial Mediterranean fever: a case-control association study

We aimed to identify the whole nucleotide sequence of the Mediterranean fever (MEFV) gene in familial Mediterranean fever (FMF) and reveal novel single nucleotide variants (SNVs) associated with the susceptibility of FMF. SeqCap capturing technique followed by Illumina next-generation sequencing hav...

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Veröffentlicht in:Clinical and experimental rheumatology 2020-09, Vol.38 Suppl 127 (5), p.35-41
Hauptverfasser: Koga, Tomohiro, Sato, Shuntaro, Mishima, Hiroyuki, Migita, Kiyoshi, Endo, Yushiro, Umeda, Masataka, Sumiyoshi, Remi, Nonaka, Fumiaki, Fukui, Shoichi, Kawashiri, Shin-Ya, Iwamoto, Naoki, Ichinose, Kunihiro, Tamai, Mami, Nakamura, Hideki, Origuchi, Tomoki, Ueki, Yukitaka, Masumoto, Junya, Agematsu, Kazunaga, Yachie, Akihiro, Yoshiura, Koh-Ichiro, Eguchi, Katsumi, Kawakami, Atsushi
Format: Artikel
Sprache:eng
Schlagworte:
Familial Mediterranean Fever - diagnosis
Familial Mediterranean Fever - genetics
High-Throughput Nucleotide Sequencing
Humans
Japan
Mutation
Pyrin - genetics
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Zusammenfassung:We aimed to identify the whole nucleotide sequence of the Mediterranean fever (MEFV) gene in familial Mediterranean fever (FMF) and reveal novel single nucleotide variants (SNVs) associated with the susceptibility of FMF. SeqCap capturing technique followed by Illumina next-generation sequencing have been used to assess two hundred SNVs in the whole region of MEFV in 266 Japanese patients with FMF and 288 ethnically matched controls. We performed an association analysis using these SNVs to identify genetic variants that predispose to FMF. We identified the two most significant SNVs [rs28940578; M694I in exon 10, odds ratio (OR) = 153, p=2.47×10-21 and rs3743930; E148Q in exon 2, OR = 1.65, p
ISSN:0392-856X