Genetic epidemiology. Supplement最新文献

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A log-linear model for binary pedigree data. 二元谱系数据的对数线性模型。

Genetic epidemiology. Supplement

Pub Date : 1986-01-01 DOI: 10.1002/gepi.1370030712

J L Hopper, P L Derrick

A pedigree model for binary data, motivated by log-linear modelling, has been developed to examine evidence for familial aggregation in disease status. From an epidemiological point of view a convenient way to express disease concordance between a pair of relatives is in terms of the odds ratio. For a rare disease this is almost equivalent to the relative risk of one family member being affected given that the other is affected, and in extending this to pedigrees it is assumed that these relative risks are multiplicative. In applying the model to the breast cancer data, pedigrees on a rare disease ascertained through an affected proband, it has been shown that estimation of concordance is dependent critically on knowing the probability that a sampled individual is affected. Therefore known population estimates of prevalence or cumulative risk, and an appropriate ascertainment correction, need to be invoked for the model to give proper estimates of disease concordance. The model is flexible in that measured ancillary risk factors, including genetic marker information, can be incorporated into the analysis. Therefore in future studies this information should be collected on all individuals, not just those affected. Suggested statistics for examining a fitted model are presented.

由对数线性模型驱动的二值数据系谱模型，已开发用于检查疾病状态中家族聚集的证据。从流行病学的观点来看，用比值比来表示一对亲属之间的疾病一致性是一种方便的方法。对于一种罕见疾病，这几乎相当于一个家庭成员受到影响的相对风险，而另一个家庭成员受到影响，并且在将其扩展到谱系时，假设这些相对风险是倍增的。在将该模型应用于乳腺癌数据，即通过受影响先证者确定的罕见疾病的谱系时，已经表明一致性的估计严重依赖于知道采样个体受影响的概率。因此，需要调用已知的患病率或累积风险的人口估计值，以及适当的确定校正，以便模型给出疾病一致性的适当估计值。该模型是灵活的，在测量辅助风险因素，包括遗传标记信息，可以纳入分析。因此，在未来的研究中，应该收集所有个体的信息，而不仅仅是那些受影响的个体。提出了检验拟合模型的建议统计量。

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引用次数: 19

Linkage analysis of Dutch families at high risk for breast cancer. 荷兰乳腺癌高危家庭的连锁分析。

Genetic epidemiology. Supplement

Pub Date : 1986-01-01 DOI: 10.1002/gepi.1370030714

A F Wilson, J E Bailey-Wilson, F J Cleton, R C Elston, M C King

This study focused on the 16 Dutch families with three o r more cases of breast cancer (Cleton et al, 1983; Bailey-Wilson et al, 1986). These families were ascertained through a single known affected index case and two other affected first degree relatives, but the identities of the two other affected first degree relatives were not specified. The families were grouped prior to any analysis because their small size precluded estimation of the age of onset parameters separately for each family. The families were classified into 3 major groups based on epidemiologic criteria and into 2 major groups based on a genetic criterion. The epidemiologic criteria were age at breast cancer diagnosis and presence or absence among biological relatives of other cancers at high incidence in the Netherlands (stomach, bladder, and liver). The genetic criterion was based on segregation models I and I1 proposed by Go et a1 (1983), which were models of dominant Mendelian inheritance with lognormally distributed age of onset. (The median age of onset for susceptibility allele carriers was 48.2 years in Model I and 64.3 years in Model 11, and sporadic cases were allowed under both models). according to the model that yielded the larger likelihood conditional on the phenotype of the index case, provided that likelihood was larger than the likelihood for a model of no transmission from one generation to the next. on the epidemiologic and genetic criteria were similar (Table 1).

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引用次数: 4

Multilocus linkage analysis of markers located on short arm of chromosome 11. 11号染色体短臂标记的多位点连锁分析。

Genetic epidemiology. Supplement

Pub Date : 1986-01-01 DOI: 10.1002/gepi.1370030720

C Bonaïti-Pellié, M Martinez, F Clerget-Darpoux

The computer program package LINKAGE (Lathrop e t a l , 1984; 1985) w a s used f o r t h e ana lyses . I n a f i r s t s t e p we performed two p o i n t a n a l y s i s u s ing t h e programs M L I N K , which c a l c u l a t e s l i ke l ihoods f o r va r ious va lues of recombination f r a c t i o n , and I L I N K which provides maximum l i k e l i h o o d e s t ima tes of recombina t i o n f r a c t i o n s , a l lowing f o r s e x d i f f e rence . A prov i s iona l o r d e r was thus obta ined . Then t h r e e p o i n t a n a l y s i s w a s per for med us ing I L I N K . We used t h e s t a t e g y suggested by Lathrop e t a1 (1984, 1985) : assuming no c o n s t r a i n t between the t h r e e recomb i n a t i o n f r a c t i o n s e l , B2, O 3 which is equ iva len t t o a l low f o r i n t e r f e r e n c e wi th u n r e s t r i c t e d c o e f f i c i e n t of coincidence -, t he e s t ima tes of e l , e2, e y i e l d d i r e c t l y the most l i k e l y o r d e r of l o c i , whatever t h e i n i t i a l o r d e r given i n the a n a l y s i s . 3

引用次数: 2

A genetic map of human chromosome 11p. 人类11p染色体的遗传图谱。

Genetic epidemiology. Supplement

Pub Date : 1986-01-01 DOI: 10.1002/gepi.1370030721

K H Buetow, A Chakravarti, S A Cole

Multipoint methods, such as those of Lathrop et al. (1984) , are more efficient than two-point linkage analysis. However, several questions relating to data communication and comparison remain unresolved. Multipoint methods require extensive computations and large computer resources. In the following we present an alternative method for constructing multipoint linkage maps using the llp data (Antonarakis et al., 1983; Fearon et al., 1984; White et al., 1985). This technique, seriation, utilizes the results of pairwise lod score analysis to obtain locus order. This allows for communication, combination and comparison of results with little effort. Following determination of locus order, inter-locus map distances and interference can be estimated using the least squares method.

引用次数: 6

Genetic analysis of human breast cancer: a synthesis of contributions to GAW IV. 人类乳腺癌的遗传分析:对GAW IV的综合贡献。

Genetic epidemiology. Supplement

Pub Date : 1986-01-01 DOI: 10.1002/gepi.1370030705

J E Bailey-Wilson, L A Cannon, M C King

A variety of reports on the genetic epidemiology of breast cancer appeared prior to GAW IV, including segregation and linkage results which are not always in agreement. Additionally, various viewpoints regarding sampling, ascertainment and modelling have been raised during the history of the study of the genetic epidemiology of breast cancer. Since these analyses have been performed on different data sets by different investigators there had previously been no method of coming to general conclusions concerning the epidemiology of this disease.

引用次数: 16

Genetic analysis of human breast cancer: literature review and description of family data in workshop. 人类乳腺癌的遗传分析:文献回顾和车间家庭数据的描述。

Genetic epidemiology. Supplement

Pub Date : 1986-01-01

M C King, L A Cannon, J E Bailey-Wilson, F J Cleton, N DeJong-Bakker, E J Gardner, O Jacobsen, M C King, H T Lynch, M H Skolnick

引用次数: 0

Linkage relationships among four 11p markers in the Utah dataset. 犹他州数据集中四个11p标记之间的连锁关系。

Genetic epidemiology. Supplement

Pub Date : 1986-01-01 DOI: 10.1002/gepi.1370030718

S J Bale, E L Harris, A E Bale

引用次数: 1

A strategy for multipoint ordering: example of the 11p markers. 多点排序策略:以11p标记为例。

Genetic epidemiology. Supplement

Pub Date : 1986-01-01 DOI: 10.1002/gepi.1370030719

D T Bishop, S L Sherman

The complete likelihood analysis is required to obtain the evidence for the gene order. Since the number of candidate orders increases rapidly with the number of loci and the complete analysis requires considerable computer time, a method for rapidly screening order is required. To this end, we used the program MAP83 for the initial investigation of order. This method provided a subset of orders to be further investigated by the complete likelihood method. We used PAP for these subsequent analyses. The advantage of algorithms such as MAP83 is that the basic unit of analysis is the set of pairwise LOD scores which are routinely calculated at the beginning of a linkage analysis. However, the magnitude of the log likelihood differences between orders can only be suggestive for two reasons. First, the usual assumptions for MAP83 regarding independence of the recombination fraction estimate are not met by these data and, therefore, no attempt can be made to interpret the log likelihood differences statistically. Secondly, pairwise information precludes identifying the specific inheritance pattern of each gamete, thus the information content of obligatory multiple recombinants is lost. For example, the order HBBC-ADJ-HRAS1-INS requires five double recombinants for the Utah data while the order HBBC-ADJ-INS- HRAS1 does not require any (White et al, 1985). The support for the former order over the latter is a log likelihood difference of 3.73 for the complete likelihood analysis when the HBBC locus is ignored.(ABSTRACT TRUNCATED AT 250 WORDS)

为了获得基因顺序的证据，需要进行完整的似然分析。由于候选序列的数量随着基因座数量的增加而迅速增加，并且完整的分析需要大量的计算机时间，因此需要一种快速筛选序列的方法。为此，我们使用MAP83程序对订单进行初步调查。该方法提供了一个用完全似然法进一步研究的数列子集。我们使用PAP进行后续分析。MAP83等算法的优点是，分析的基本单位是在链接分析开始时通常计算的成对LOD分数集。然而，订单之间的对数似然差异的大小只能提示两个原因。首先，这些数据不满足MAP83关于重组分数估计独立性的通常假设，因此，无法尝试在统计上解释对数似然差异。其次，配对信息无法识别每个配子的特定遗传模式，从而丢失了强制性多个重组的信息内容。例如，序列hbc - adj -HRAS1- ins在犹他州的数据中需要5个双重组，而序列hbc - adj - ins -HRAS1则不需要任何双重组(White et al, 1985)。在忽略HBBC基因座的完全似然分析中，前者对后者的支持度为3.73的对数似然差。(摘要删节250字)

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引用次数: 1

Multipoint analysis of chromosome 11p markers. 11p染色体标记的多点分析。

Genetic epidemiology. Supplement

Pub Date : 1986-01-01 DOI: 10.1002/gepi.1370030722

D E Goldgar, P R Fain

The nature of the problems posed for the l l p segment of the fourth Genetic Analysis Workshop w e r e discussed in some detail i n the summary paper, as w e r e the characteristics of the two data sets available for analysis. W e assume that the reader is familiar w i t h the summary and therefore make no attenpt t o duplicate this information here. Our efforts in the analysis of the workshop data focvsed primarily on three different approaches t o the multipoint napping problem. Specifically, we wanted t o know i f gene order could be determined and a reasonable genetic map be constructed through the use of simple gametic counting procedures. Our second approach w a s t o analyze the data using a model incorporathy a prior distribution of chiasroata t o f i t relative genetic distances t o the obtained gametic frequency counts. This approach is similar t o the method which we described in GAW I11 (Fain and Goldgar, 1985). Use of these methak required that 4 locus phase could be determined either directly f m grandparental genotypes or indirectly from examination of very large sibshi~. Consequently, we concentrated our efforts on the large three generation families contained i n the WAFI data set, and our report w i l l be limited t o the analysis of t h i s data set.

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引用次数: 2

Linkage analysis and multi-point mapping of 11p markers. 11p标记的连锁分析及多点定位。

Genetic epidemiology. Supplement

Pub Date : 1986-01-01 DOI: 10.1002/gepi.1370030725

M L Marazita, M A Spence

Loci assigned to the short arm of chromosome 11 include insulin, oncogene c-Ha-ras-1, ADJ, beta-globin, parathyroid hormone, calcitonin, and catalase. However, the order of these loci is not clear because two major datasets (UTAH, White et al, 1985, and HOPKINS, Fearon et al, 1984) give conflicting results when analyzed separately. Also, the loci in this region exhibit an unusual sex difference in recombination in that more recombination is seen in males than females. For our analyses, we used both datasets for pair-wise and multi-point mapping of the llp markers.

引用次数: 1

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