Expressive

rs10030044 - FTH1P21 - LINC02272

Magnitude 2.0 · 2 studies on file

Reported associations

  • Genetics of physiological dysregulation: findings from the long life family study using joint models - Aging (2021) · Arbeev KG, Bagley O, Ukraintseva SV, Wu D, Duan H, Kulminski AM, Stallard E, Christensen K, Lee JH, Thyagarajan B, Zmuda JM, Yashin AI · PubMed 32235003

    ABSTRACT: Recently, Mahalanobis distance (DM) was suggested as a statistical measure of physiological dysregulation in aging individuals. We constructed DM variants using sets of biomarkers collected at the two visits of the Long Life Family Study (LLFS) and performed joint analyses of longitudinal observations of DM and follow-up mortality in LLFS using joint models. We found that DM is significantly associated with mortality (hazard ratio per standard deviation: 1.31 [1.16, 1.48] to 2.22 [1.84, 2.67]) after controlling for age and other covariates. GWAS of random intercepts and slopes of DM estimated from joint models found a genome-wide significant SNP (rs12652543, p=7.2×10-9) in the TRIO gene associated with the slope of DM constructed from biomarkers declining in late life. Review of

  • Selective Estrogen Receptor Modulators and Pharmacogenomic Variation in ZNF423 Regulation of BRCA1 Expression: Individualized Breast Cancer Prevention - Cancer discovery (2014) · Ingle JN, Liu M, Wickerham DL, Schaid DJ, Wang L, Mushiroda T, Kubo M, Costantino JP, Vogel VG, Paik S, Goetz MP, Ames MM, Jenkins GD, Batzler A, Carlson EE, Flockhart DA, Wolmark N, Nakamura Y, Weinshilboum RM · PubMed 23764426

    ABSTRACT: The selective estrogen receptor modulators (SERMs) tamoxifen and raloxifene can reduce the occurrence of breast cancer in high risk women by 50%, but this FDA-approved prevention therapy is not often used. We attempted to identify genetic factors that contribute to variation in SERM breast cancer prevention using DNA from the NSABP P-1 and P-2 breast cancer prevention trials. An initial discovery genome-wide association study identified common single nucleotide polymorphisms (SNPs) in or near the ZNF423 and CTSO genes that were associated with breast cancer risk during SERM therapy. We then showed that both ZNF423 and CTSO participated in the estrogen-dependent induction of BRCA1 expression, in both cases with SNP-dependent variation in induction. ZNF423 appeared to be an estroge

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