Evidence for genetic association of CARD9 and SNAPC4 with ankylosing spondylitis in a Chinese Han population

The Journal of Rheumatology
Xiaochun MaQiji Liu

Abstract

A genome-wide association study and 2 replication studies identified 2 single-nucleotide polymorphisms (SNP) of caspase recruitment domain-containing protein 9 (CARD9) and small nuclear RNA-activating complex polypeptide 4 (SNAPC4) at Chr 9q34.3 associated with ankylosing spondylitis (AS) in whites. We explored a possible association of SNP in CARD9 and SNAPC4 and AS in a Chinese Han population from Shandong. The study included 1150 patients with AS and 1120 healthy controls who underwent genotyping for 4 SNP of CARD9 and 2 of SNAPC4; we replicated the results in another 490 patients and 380 healthy controls of Ningxia Han Chinese during the same time. We used quantitative real-time PCR (qRT-PCR) to measure CARD9 and SNAPC4 mRNA expression in peripheral leukocytes from 44 patients and 36 controls and allele-specific mRNA expression of CARD9 and SNAPC4 in leukocytes from 130 controls. We validated that an SNP in SNAPC4, rs11145835, was significantly associated with AS in our Chinese Han population (p = 0.001) and replicated the association in samples from the Chinese Ningxia Han population (p = 0.002). Carrying the G allele of rs11145835 was associated with increased risk of AS (OR 1.34, 95% CI 1.12-1.59) and with decreased expr...Continue Reading

References

Jan 20, 1998·Arthritis and Rheumatism·J BraunJ Sieper
Jan 19, 1999·Rheumatic Diseases Clinics of North America·S van der Linden, D van der Heijde
Jan 7, 2003·The Journal of Biological Chemistry·Naohiro InoharaGabriel Nuñez
Apr 24, 2007·Nature Immunology·Salomé LeibundGut-LandmannCaetano Reis e Sousa
Oct 24, 2007·Nature Genetics·UNKNOWN Wellcome Trust Case Control ConsortiumMathew Brown
Feb 2, 2008·Arthritis Research & Therapy·Qing Yu ZengNai Zheng Zhang
Dec 17, 2008·Annals of the New York Academy of Sciences·Jürgen Ruland
Mar 3, 2010·Immunological Reviews·Gethin P Thomas, Matthew A Brown
May 14, 2010·Genes and Immunity·J J PointonB P Wordsworth
Jul 12, 2011·Nature Genetics·David M EvansUNKNOWN Wellcome Trust Case Control Consortium 2 (WTCCC2)
Feb 14, 2012·Arthritis and Rheumatism·Merja RuutuRanjeny Thomas

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Citations

Aug 6, 2016·Journal of Translational Medicine·Andrea Picchianti DiamantiRaffaele D'Amelio
Nov 2, 2019·Ocular Immunology and Inflammation·Fuzhen LiPeizeng Yang
May 7, 2016·Current Opinion in Rheumatology·Mark Asquith, James T Rosenbaum
Feb 5, 2016·Gut·Harry SokolLaurent Beaugerie
Jun 6, 2019·Arthritis Research & Therapy·Daniel E Furst, James S Louie
Oct 15, 2020·Rheumatology·Kassem SharifDennis McGonagle

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