Correlation Between the Warrior/Worrier Gene on Post Burn Pruritus and Scarring: A Prospective Cohort Study.
Correlation Between the Warrior/Worrier Gene on Post Burn Pruritus and Scarring: A Prospective Cohort Study.
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DOI：
10.1097/sla.0000000000004235
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发表时间：
2022-05-01
影响因子：
9
通讯作者：
Gibran NS
中科院分区：
文献类型：
--
作者：
Oh J;Fernando A;Muffley L;Honari S;Gibran NS
遗传变异和临床条件之间的关联表明，单核苷酸多态性（SNPs）可能与烧伤后的结果。COMT调节儿茶酚胺代谢，rs 4680等位基因内的多态性导致可变的酶活性。众所周知，儿茶酚胺可以调节炎症过程，并可能影响疤痕形成。本研究的目的是确定COMT基因的rs 4680 SNP变异是否与烧伤后瘙痒和瘢痕形成相关。2007年至2017年期间入院的深度部分厚度烧伤或延迟愈合的成人烧伤患者在受伤后1年内提供了用于基因分型和自我报告的瘙痒评分的血液样本。使用温哥华瘢痕量表（VSS）测量瘢痕形成。瘙痒评分≥4和VSS评分>7被认为是重度。使用实时聚合酶链反应（PCR）对基因组脱氧核糖核酸进行rs 4680 SNP基因分型。中位瘙痒和VSS评分GG纯合子最高，AA纯合子最低。VSS评分差异有统计学意义（P < 0.0001），瘙痒差异接近统计学意义（P = 0.052）。在考虑了混杂变量（包括人种/种族、年龄、性别和烧伤面积）后，GG纯合子与AG杂合子相比表现出更差的瘢痕形成（比值比1.88，P = 0.005），而AA纯合子倾向于对瘢痕形成具有保护作用（比值比0.71，P = 0.10）。瘙痒在rs 4680基因型之间没有表现出统计学显著差异。我们的分析确定了COMT基因型与瘢痕形成之间的趋势，rs 4680遗传变异构成VSS评分的独立危险因素。
Associations between genetic variation and clinical conditions suggest that single nucleotide polymorphisms (SNPs) might correlate with postburn outcomes. COMT modulates catecholamine metabolism, and polymorphisms within the rs4680 allele result in variable enzyme activity. Catecholamines are known to modulate the inflammatory process and may affect scar formation. The aim of this study was to determine whether variants in the rs4680 SNP of the COMT gene are associated with post-burn pruritus and scarring. Adult burn patients, admitted between 2007 and 2017, with deep partial-thickness burns or delayed healing provided blood samples for genotyping and self-reported itch scores within 1 year of injury. Scarring was measured using the Vancouver Scar Scale (VSS). Itch scores ≥4 and VSS scores >7 were considered severe. Genomic deoxyribonucleic acid was genotyped for the rs4680 SNP using realtime polymerase chain reaction (PCR). Median itch and VSS scores were highest for GG homozygotes and lowest for AA homozygotes. This difference was statistically significant for VSS score (P < 0.0001) and approached significance for itch (P = 0.052). After accounting for confounding variables, including race/ethnicity, age, sex, and burn size, the GG homozygotes demonstrated worse scarring (odds ratio 1.88, P = 0.005) compared to AG heterozygotes whereas the AA homozygotes trended towards a protective effect against scarring (odds ratio 0.71, P = 0.10). Itch did not demonstrate a statistically significant difference between rs4680 genotype. Our analysis identifies a trend between COMT genotype with scarring, with rs4680 genetic variation constituting an independent risk factor for VSS score.
DOI：
10.1101/lm.032094.113
发表时间：
2014-03-17
期刊：
Learning & memory (Cold Spring Harbor, N.Y.)
影响因子：
--
作者：
Simpson EH;Morud J;Winiger V;Biezonski D;Zhu JP;Bach ME;Malleret G;Polan HJ;Ng-Evans S;Phillips PE;Kellendonk C;Kandel ER
通讯作者：
Kandel ER