表
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Table 1—
睡眠呼吸呼吸(SDB)的受试者的通气控制研究,家庭和控制
Reference 主题n HVR HCVR HCVRand loading SDB F Controls 54 10 12 9 SDBand family lower than controls 群体之间没有区别 家庭的呼吸阻抗更大,c.f.控件 55 8 8 减少v'ein SDB 56 13# 32 No difference between relatives No difference between relatives 56 16 26 No difference between relatives No difference between relatives 57 35 17 No difference between groups SDB的响应较低 58 16 12 Greater increasev'ein SDB No difference between groups 59 20¶ 19 No difference between groups No difference between groups 60 37 14 No difference between groups No difference between groups 61 151 总受试者485:计算通气变异性指数。多线性回归显示与通气变异性增加的AHI相关。 Patients with SDB are normocapnic unless otherwise indicated. F: family members; HVR: hypoxic ventilatory response; HCVR: hypercapnic ventilatory response;v'e: minute ventilation; AHI: apnoea/hypopnoea index.#: hypercapnic patients;¶:平均±儿童SD年龄8±3岁。
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Table 2—
Candidate gene studies for the causes and consequences of the obstructive sleep apnoea/hypopnoea syndrome (current as of October 2008)
Reference Gene 等位基因 假设 Population Phenotype 协会 80 高手 I/D 高手SNPs associated with development of OSA 174 Han Chinese with differing degrees of sleep apnoea and hypertension AHI 与D等位基因以及OSAH和高血压相关的中央肥胖症 81 高手 I/D 高手SNPs associated with development of hypertension in OSA 威斯康星州睡眠队列的1100名受试者 AHI D allele associated with hypertension at mild/moderate levels of OSAHS only 82 高手 I/D 高手SNPs associated with development of hypertension in OSA 972受试者(克利夫兰家庭研究) AHI D等位基因受试者的高血压风险降低;在严重呼吸暂停中预防高血压的一两个D等位基因 83 高手 I/D 高手SNPs associated with development of OSA 157 patients with hypertension; 181 population controls ahi> 10个事件·H-1 OSAH和ACE I/D多态性之间的显着相互作用 84 高手 I/D 高手SNPs associated with development of hypertension in OSA 30 Han Chinese with OSAHS and hypertension; 30 OSAHS normotensive; 30 controls AHI和血压 I/I基因型和我在OSAH高血压患者中更为常见 85 ADRB2 cys47-arg ADRB2 SNPs influence cardiovascular morbidity in OSAHS 429例中度至重度OSAH的德国患者 AHI 具有有害SNP的CVS轮廓异常的风险更高;带有有害SNP的MI死亡率的较高风险 Gly16Arg Gln27Glu 86 ADRB3 Trp64Arg OSAHS associated with obesity and insulin resistance and hypertension 387 patients with OSA; 137 controls AHI No association of ADRB3 SNP with OSAHS; BMI higher in subjects with -64Arg 87 ADRB2 cys47-arg 中央肥胖在osahs中更常见 165雄性中国人与奥萨斯(Osahs);153男性汉族中国对照 AHI -64Arg SNP of ADBR3 more common in OSAHS and possible association with obesity; no association of ADBR2 SNPs with OSAHS ADRB3 Gly16Arg Gln27Glu Trp64Arg 65 TNF-α -308A/G TNF-A与OSAH相关 103 Scottish patients with OSAHS; 190 controls AHI; ESS; history of sleepiness; age and sex-related cut-offs for AHI developed -308A SNP associated with OSAHS 88 HP 1-1 参与氧化过程的触觉球蛋白 465名OSAHS的以色列患者;757控件 AHI Haptoglobin phenotype 2–2 in OSAHS patients aged <55 yrs associated with increased susceptibility to hypertension 2–1 2–2 89 5HTR2A -1438G/a Upper airway control dependent on the serotonergic system 55名土耳其OSAHS患者;102个控件 AHI T102C SNP与OSAH无关;-1438a SNP在OSAHS中更常见 T102C 90 5HTR2A T102C Upper airway control dependent on the serotonergic system 177 male Japanese OSAHS patients; 100 male controls AHI >5 events·h-1and daytime somnolence 频率太低的htr2c SNP;没有5HT2A受体SNP与OSAH的关联 5HTR2C 796G/C 91 Sert l和s vntr;HTT LEPR 12/12和12/10 Serotonin levels may be variable in OSAHS 27名土耳其OSAH患者;62个控件 Not known 没有重要的关联 92 GABBR1 Ala20Val No hypothesis 75 Turkish subjects with OSAHS; 99 controls AHI No association of any of the SNPs with OSAHS Gly489ser Phe658Phe (C/G) 93 EDN1 Lys198Asn (G/T) 内皮素会影响心血管状态 364例德国OSAHS患者;57个控件 AHI >5 events·h-1 Lys198ASN基因型与升高AHI相关;肥胖OSAHS患者中与LYS198ASN基因型相关的AHI 94 LEPR Gln223Arg (A/G) Leptin levels raised in OSAHS 102 OSAHS patients; 77 controls AHI >5 events·h-1 -223 arg cripar架在肥胖,尤其是女性中更频繁。ARG/ARG基因型的受试者的甘油三酸酯和胆固醇水平较高 95 LEP Tetranucleotide repeat in 3'-flank. Region leptin gene; Lys109Arg (A/G); Gln223Arg (A/G); Lys656Asn (G/C) 瘦素调节在OSAHS中发生了变化 130 Japanese OSAHS patients; 50 controls AHI >5 events·h-1 No association of any SNPs with OSAHS LEPR 96 pai-i IID (4G/5G) in promoter region I/D SNP在CVS疾病中的作用 78 male OSAHS Mallorcansversus70 healthy male controls AHI >5 events·h-1 没有I/D SNP与OSAH的关联 97 apoe apoe4 apoe4 precursor of atherosclerosis 291名芬兰患者;728随机控制 诊断OSAH APOE的等位基因变体没有差异 98 apoe apoe4 apoe4 precursor of atherosclerosis 718名日裔男性(79-97岁) AHI >5 events·h-1 No association of ApoE E4 with AHI 99 apoe apoe4 apoe4 precursor of atherosclerosis 222 APOE E4阳性versus569 APOE E4负 OSA组的分层AHI> 5事件·H-1根据APOE基因型 E4阳性组中的较高AHI 100 apoe apoe4 apoe4 precursor of atherosclerosis 1775年社区新兵(睡眠心脏健康研究) AHI >5 events·h-1 E4/E4的正态分布 ACE:血管紧张素转化酶;I:插入;D:删除;SNP:单核苷酸多态性;OSA:阻塞性睡眠呼吸暂停;AHI:呼吸暂停/呼吸呼吸症;OSAH:阻塞性睡眠呼吸暂停/呼吸症综合征;ADRB2:β-2肾上腺受体;CVS:心血管;MI:真菌梗死; ADRB3, beta-3 adrenoreceptor; BMI: body mass index; TNF: tumour necrosis factor; ESS: Epworth sleepiness scale; HP: haptoglobin; 5HTR2A: 5-hydroxytryptamine receptor 2A; 5HTR2C: 5-hydroxytryptamine receptor 2C; SERT: serotonin transporter; VNTR: variable number tandem repeat; HTT: HTT serotonin transporter; LEPR: leptin receptor; GABBR1: gamma-aminobutyric acid B receptor 1; EDN1: endothelin-1; LEP: leptin; PAI-I: plasminogen activator inhibitor-1; APOE: apolipoprotein E gene; ApoE: apolipoprotein E.