Variations in ORAI1 Gene Associated with Kawasaki Disease.
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ABSTRACT:
SUBMITTER: Onouchi Y
PROVIDER: S-EPMC4720480 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Publications
Variations in ORAI1 Gene Associated with Kawasaki Disease.
Onouchi Yoshihiro Y Fukazawa Ryuji R Yamamura Kenichiro K Suzuki Hiroyuki H Kakimoto Nobuyuki N Suenaga Tomohiro T Takeuchi Takashi T Hamada Hiromichi H Honda Takafumi T Yasukawa Kumi K Terai Masaru M Ebata Ryota R Higashi Kouji K Saji Tsutomu T Kemmotsu Yasushi Y Takatsuki Shinichi S Ouchi Kazunobu K Kishi Fumio F Yoshikawa Tetsushi T Nagai Toshiro T Hamamoto Kunihiro K Sato Yoshitake Y Honda Akihito A Kobayashi Hironobu H Sato Junichi J Shibuta Shoichi S Miyawaki Masakazu M Oishi Ko K Yamaga Hironobu H Aoyagi Noriyuki N Yoshiyama Megumi M Miyashita Ritsuko R Murata Yuji Y Fujino Akihiro A Ozaki Kouichi K Kawasaki Tomisaku T Abe Jun J Seki Mitsuru M Kobayashi Tohru T Arakawa Hirokazu H Ogawa Shunichi S Hara Toshiro T Hata Akira A Tanaka Toshihiro T
PloS one 20160120 1
Kawasaki disease (KD; MIM#61175) is a systemic vasculitis syndrome with unknown etiology which predominantly affects infants and children. Recent findings of susceptibility genes for KD suggest possible involvement of the Ca(2+)/NFAT pathway in the pathogenesis of KD. ORAI1 is a Ca(2+) release activated Ca(2+) (CRAC) channel mediating store-operated Ca(2+) entry (SOCE) on the plasma membrane. The gene for ORAI1 is located in chromosome 12q24 where a positive linkage signal was observed in our pr ...[more]
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2007-12-13 | GSE9864 | GEO
Project description:BackgroundAdiponectin is reported to be related to the development of chronic obstructive pulmonary disease (COPD). Genetic variants in the gene encoding adiponectin (ADIPOQ) have been reported to be associated with adiponectin level in several genome-wide linkage and association studies. However, relatively little is known about the effects of ADIPOQ gene variants on COPD susceptibility. We determined the frequencies of single-nucleotide polymorphisms (SNPs) in ADIPOQ in a Chinese Han population and their possible association with COPD susceptibility.MethodsWe conducted a case-control study of 279 COPD patients and 367 age- and gender-distribution-matched control subjects. Seven tagging SNPs in ADIPOQ, including rs710445, rs16861205, rs822396, rs7627128, rs1501299, rs3821799 and rs1063537 were genotyped by SNaPshot. Association analysis of genotypes/alleles and haplotypes constructed from these loci with COPD was conducted under different genetic models.ResultsThe alleles or genotypes of rs1501299 distributed significantly differently in COPD patients and controls (allele: P = 0.002, OR = 1.43 and 95%CI = 1.14-1.79; genotype: P = 0.008). The allele A at rs1501299 was potentially associated with an increased risk of COPD in all dominant model analysis (P = 0.009; OR: 1.54; 95%CI: 1.11-2.13), recessive model analyses (P = 0.015; OR: 1.75; 95% CI: 1.11-2.75) and additive model analyses (P = 0.003; OR: 2.11; 95% CI: 1.29-3.47). In haplotype analysis, we observed haplotypes AAAAACT and GGACCTC had protective effects, while haplotypes AGAACTC, AGGCCTC, GGAACTC, GGACACT and GGGCCTC were significantly associated with the increased risk of COPD.ConclusionsWe conducted the first investigation of the association between the SNPs in ADIPOQ and COPD risk. Our current findings suggest that ADIPOQ may be a potential risk gene for COPD. Further studies in larger groups are warranted to confirm our results.
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