Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA.
Frances Payne Bolton School of Nursing, Case Western Reserve University, Cleveland, OH, USA.
Biol Res Nurs. 2020 Jul;22(3):319-325. doi: 10.1177/1099800420924125. Epub 2020 May 11.
Cystic fibrosis (CF) is an autosomal recessive disease that affects many organ systems, most notably the pulmonary and gastrointestinal systems. Through genome-wide association studies, multiple genetic regions modifying CF-related pulmonary and gastrointestinal symptoms have been identified, but translation of these findings to clinical benefit remains elusive. Symptom variation in CF patients has been associated with changes in health-related quality of life (HRQOL), but the relationship between CF symptom-modifying genetic loci and HRQOL has not been explored. The purpose of this study was to determine whether two previously identified genetic modifiers of CF-related pathology also modify the subscales of HRQOL.
HRQOL and genotype data were obtained and analyzed. Linear regressions were used to examine the amount of variance in HRQOL subscales that could be explained by genotype for each modifier locus.
A significant regression equation was found between genotype for rs5952223, a variant near chrXq22-q23, and emotional functioning in a sample of 129 CF patients.
These data suggest that genotype for this single-nucleotide polymorphism is associated with emotional functioning in CF patients and highlight this genetic region as a potential therapeutic target, irrespective of CF transmembrane conductance regulator genotype.
囊性纤维化（CF）是一种常染色体隐性疾病，影响许多器官系统，最明显的是肺部和胃肠道系统。通过全基因组关联研究，已经确定了多个修饰 CF 相关肺部和胃肠道症状的遗传区域，但这些发现转化为临床益处仍然难以捉摸。CF 患者的症状变化与健康相关生活质量（HRQOL）的变化有关，但 CF 症状修饰遗传位点与 HRQOL 之间的关系尚未得到探索。本研究的目的是确定两个先前确定的 CF 相关病理学的遗传修饰因子是否也修饰了 HRQOL 的亚量表。
获得并分析了 HRQOL 和基因型数据。线性回归用于检查每个修饰基因座的基因型对 HRQOL 亚量表的方差量。
在 129 例 CF 患者的样本中，rs5952223 附近 chrXq22-q23 上的一个变体的基因型与情感功能之间存在显著的回归方程。
这些数据表明，该单核苷酸多态性的基因型与 CF 患者的情感功能有关，并强调了该遗传区域作为潜在的治疗靶点，而与 CF 跨膜电导调节剂基因型无关。
