### Abstract

Individual disease risk estimated based on the data from single or multiple genetic loci is generally calculated using the genotypes of a subject, frequencies of alleles of interest, odds ratios and the average population risk. However, it is often difficult to estimate accurately the average population risk, and therefore it is often expressed as an interval. To better estimate the risk of a subject with given genotypes, we built R scripts using the R environment and constructed graphs to examine the change in the estimated risk as well as the relative risk according to the change of the average population risk. In most cases, the graph of the relative risk did not cross the line of y=1, thereby indicating that the order of the relative risk for given genotypes and the population average risk does not change when the average risk increases or decreases. In rare cases, however, the graph of the relative risk crossed the line of y=1, thereby indicating that the order of the relative risk for given genotypes and the population average risk does change owing to the change in the population risk. We propose that the relative risk should be estimated for not only the point average population risk but also for an interval of the average population risk. Moreover, when the graph crosses the line of y=1 within the interval, this information should be reported to the consumer.

Original language | English |
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Pages (from-to) | 191-198 |

Number of pages | 8 |

Journal | Journal of Human Genetics |

Volume | 62 |

Issue number | 2 |

DOIs | |

Publication status | Published - 2017 Feb 1 |

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### ASJC Scopus subject areas

- Genetics
- Genetics(clinical)

### Cite this

*Journal of Human Genetics*,

*62*(2), 191-198. https://doi.org/10.1038/jhg.2016.106

**Estimation of the risk of a qualitative phenotype : Dependence on population risk.** / Kamatani, Naoyuki; Kamitsuji, Shigeo; Akazawa, Yasuaki; Kido, Takashi; Akita, Masanori.

Research output: Contribution to journal › Article

*Journal of Human Genetics*, vol. 62, no. 2, pp. 191-198. https://doi.org/10.1038/jhg.2016.106

}

TY - JOUR

T1 - Estimation of the risk of a qualitative phenotype

T2 - Dependence on population risk

AU - Kamatani, Naoyuki

AU - Kamitsuji, Shigeo

AU - Akazawa, Yasuaki

AU - Kido, Takashi

AU - Akita, Masanori

PY - 2017/2/1

Y1 - 2017/2/1

N2 - Individual disease risk estimated based on the data from single or multiple genetic loci is generally calculated using the genotypes of a subject, frequencies of alleles of interest, odds ratios and the average population risk. However, it is often difficult to estimate accurately the average population risk, and therefore it is often expressed as an interval. To better estimate the risk of a subject with given genotypes, we built R scripts using the R environment and constructed graphs to examine the change in the estimated risk as well as the relative risk according to the change of the average population risk. In most cases, the graph of the relative risk did not cross the line of y=1, thereby indicating that the order of the relative risk for given genotypes and the population average risk does not change when the average risk increases or decreases. In rare cases, however, the graph of the relative risk crossed the line of y=1, thereby indicating that the order of the relative risk for given genotypes and the population average risk does change owing to the change in the population risk. We propose that the relative risk should be estimated for not only the point average population risk but also for an interval of the average population risk. Moreover, when the graph crosses the line of y=1 within the interval, this information should be reported to the consumer.

AB - Individual disease risk estimated based on the data from single or multiple genetic loci is generally calculated using the genotypes of a subject, frequencies of alleles of interest, odds ratios and the average population risk. However, it is often difficult to estimate accurately the average population risk, and therefore it is often expressed as an interval. To better estimate the risk of a subject with given genotypes, we built R scripts using the R environment and constructed graphs to examine the change in the estimated risk as well as the relative risk according to the change of the average population risk. In most cases, the graph of the relative risk did not cross the line of y=1, thereby indicating that the order of the relative risk for given genotypes and the population average risk does not change when the average risk increases or decreases. In rare cases, however, the graph of the relative risk crossed the line of y=1, thereby indicating that the order of the relative risk for given genotypes and the population average risk does change owing to the change in the population risk. We propose that the relative risk should be estimated for not only the point average population risk but also for an interval of the average population risk. Moreover, when the graph crosses the line of y=1 within the interval, this information should be reported to the consumer.

UR - http://www.scopus.com/inward/record.url?scp=85010910561&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85010910561&partnerID=8YFLogxK

U2 - 10.1038/jhg.2016.106

DO - 10.1038/jhg.2016.106

M3 - Article

C2 - 27557667

AN - SCOPUS:85010910561

VL - 62

SP - 191

EP - 198

JO - Journal of Human Genetics

JF - Journal of Human Genetics

SN - 1434-5161

IS - 2

ER -