遺傳關聯性研究單套型與環境效應的半母數推論

Semiparametric Inference on Haplotype and Environmental Effects in Genetic Association Studies

鄭榕鈺(Jung-Yu Cheng) ； 曾信嘉(Shinn-Jia Tzeng)

《作物、環境與生物資訊》 6卷2期 (2009/06) Pp. 73-86

https://doi.org/10.30061/CEB.200906.0001

摘要

單套型是在某區塊內特定幾個單核苷酸多型性(single nucleotide polymorphism, SNP)基因所訂定的序列。遺傳關聯性研究時常探索單套型與數量表現型間之關係。然而，因為兩個同源單套型的組成無法區分（混淆基因型），導致單套型經常是不明確的情況。本文考慮個體彼此無關的世代研究，蒐集到可能會遭遇設限的事件時間與混淆基因型的資料，以半母數加速失敗時間模式(semiparametricaccelerated failure time model)描述單套型與環境變數對失敗時間之表現型的影響。有關秩的推論被開發出來估計迴歸參數與基礎的存活函數，並由一些模擬研究來評估所建議方法的表現。

關鍵字

世代研究 ； 加速失敗時間模式 ； 秩估計量 ； 單核苷酸多型性 ； 混淆基因型

並列摘要

A haplotype is a specific sequence of particular single nucleotide polymorphism (SNP) alleles in a block. Genetic association studies often explore the relation between haplotypes and quantitative phenotypes. However, haplotypes are usually ambiguous because the combination of the two homologous haplotypes cannot be derived (unphased genotype). This paper considers cohort studies of unrelated individuals which collect potentially censored time-to-event data along with unphased genotypes, and uses the semiparametric accelerated failure time model for the effects of haplotypes and environmental variables on the failure-time phenotype. Rank-based inferences are developed to estimate regression parameters and the baseline survival function. Some simulation studies are presented to evaluate the performance of the proposed methods.

並列關鍵字

Cohort study ； Accelerated failure time model ； Rank estimator ； Single nucleotide polymorphism ； Unphased genotype