Genetic variations in ADIPOQ gene are associated with chronic obstructive pulmonary disease.
Genetic variations in ADIPOQ gene are associated with chronic obstructive pulmonary disease.
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ADIPOQ 基因的遗传变异与慢性阻塞性肺疾病相关
DOI：
10.1371/journal.pone.0050848
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发表时间：
2012
期刊：
影响因子：
3.7
通讯作者：
Su Z
中科院分区：
文献类型：
--
作者：
Yuan Y;Jiang H;Kuang J;Hou X;Feng Y;Su Z
脂联素与慢性阻塞性肺疾病（COPD）的发生发展有关。在一些全基因组连锁和关联研究中，脂联素编码基因（ADIPOQ）的遗传变异与脂联素水平相关。然而，关于ADIPOQ基因变异对COPD易感性的影响，人们知之甚少。我们确定了中国汉族人群ADIPOQ单核苷酸多态性（SNPs）的频率及其与COPD易感性的可能关联。我们对279名COPD患者和367名年龄和性别分布匹配的对照组进行了病例对照研究。应用SNaPshot技术对ADIPOQ中7个标签SNPs（rs710445、rs 16861205、rs 822396、rs7627128、rs 1501299、rs3821799和rs 1063537）进行基因分型。在不同的遗传模型下对这些基因座构建的基因型/等位基因和单倍型与COPD进行关联分析。rs 1501299等位基因或基因型在COPD组和对照组中的分布差异有统计学意义（等位基因：P = 0.002，OR = 1.43，95%CI = 1.14-1.79;基因型：P = 0.008）。 在所有显性模型分析（P = 0.009; OR：1.54; 95%CI：1.11-2.13）、隐性模型分析（P = 0.015; OR：1.75; 95%CI：1.11-2.75）和加性模型分析（P = 0.003; OR：2.11; 95%CI：1.29-3.47）中，rs 1501299处的等位基因A可能与COPD风险增加相关。 在单倍型分析中，我们观察到单倍型AAAAACT和GGACCTC具有保护作用，而单倍型AGAACTC、AGGCCTC、GGAACTC、GGACACT和GGGCCTC与COPD风险增加显著相关。我们进行了ADIPOQ中SNPs与COPD风险之间关联的首次调查。我们目前的研究结果表明ADIPOQ可能是COPD的一个潜在危险基因。需要在更大的群体中进行进一步的研究来证实我们的结果。
Adiponectin 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. We 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. The 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. We 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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影响因子：
5.3
作者：
Heid, Iris M.;Henneman, Peter;Hicks, Andrew;Coassin, Stefan;Winkler, Thomas;Aulchenko, Yurii S.;Fuchsberger, Christian;Song, Kijoung;Hivert, Marie-France;Waterworth, Dawn M.;Timpson, Nicholas J.;Richards, J. Brent;Perry, John R. B.;Tanaka, Toshiko;Amin, Najaf;Kollerits, Barbara;Pichler, Irene;Oostra, Ben A.;Thorand, Barbara;Frants, Rune R.;Illig, Thomas;Dupuis, Josee;Glaser, Beate;Spector, Tim;Guralnik, Jack;Egan, Josephine M.;Florez, Jose C.;Evans, David M.;Soranzo, Nicole;Bandinelli, Stefania;Carlson, Olga D.;Frayling, Timothy M.;Burling, Keith;Smith, George Davey;Mooser, Vincent;Ferrucci, Luigi;Meigs, James B.;Vollenweider, Peter;van Dijk, Ko Willems;Pramstaller, Peter;Kronenberg, Florian;van Duijn, Cornelia M.
通讯作者：
van Duijn, Cornelia M.
影响因子：
3.7
作者：
Cole JW;Stine OC;Liu X;Pratap A;Cheng Y;Tallon LJ;Sadzewicz LK;Dueker N;Wozniak MA;Stern BJ;Meschia JF;Mitchell BD;Kittner SJ;O'Connell JR
通讯作者：
O'Connell JR
影响因子：
9.8
作者：
Jee, Sun Ha;Sull, Jae Woong;Beaty, Terri H.
通讯作者：
Beaty, Terri H.
DOI：
10.1164/ajrccm/140.3_pt_2.s82
发表时间：
1989-09-01
期刊：
AMERICAN REVIEW OF RESPIRATORY DISEASE
影响因子：
--
作者：
DAVIS, RM;NOVOTNY, TE
通讯作者：
NOVOTNY, TE
DOI：
10.1080/00365510802474400
发表时间：
2009-01-01
影响因子：
2.1
作者：
Kirdar, Sevin;Serter, Mukadder;Karadag, Fisun
通讯作者：
Karadag, Fisun