Age-related macular degeneration (AMD) is a common eye disease among the elderly that can lead to partial or total loss of vision. It is well known that smoking and excessive weight tend to be associated with higher incidence rates of AMD. More recently, however, several genes have been found t be associated with AMD as well. One gene that has been considered is the Y402H gene (RS 1061170). There are three genotypes for the Y402H gene-TT, TC, and CC. Suppose the relationship between AMD and the Y402H genotype is as follows. Association between Y402H genotype and prevalence of AMD in a high-risk population Y402H TT (wild type) TC CC Total LAUSE SALT AMD= yes AMD no 39 118 120 277 378 528 276 1,182
Age-related macular degeneration (AMD) is a common eye disease among the elderly that can lead to partial or total loss of vision. It is well known that smoking and excessive weight tend to be associated with higher incidence rates of AMD. More recently, however, several genes have been found t be associated with AMD as well. One gene that has been considered is the Y402H gene (RS 1061170). There are three genotypes for the Y402H gene-TT, TC, and CC. Suppose the relationship between AMD and the Y402H genotype is as follows. Association between Y402H genotype and prevalence of AMD in a high-risk population Y402H TT (wild type) TC CC Total LAUSE SALT AMD= yes AMD no 39 118 120 277 378 528 276 1,182
MATLAB: An Introduction with Applications
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Transcribed Image Text:Ophthalmology, Genetics
Age-related macular degeneration (AMD) is a common eye disease among the elderly that can lead to partial or total loss of vision. It is well known that smoking and excessive weight tend to be associated with higher incidence rates of AMD. More recently, however, several genes have been found to
be associated with AMD as well. One gene that has been considered is the Y402H gene (RS 1061170). There are three genotypes for the Y402H gene-TT, TC, and CC. Suppose the relationship between AMD and the Y402H genotype is as follows.
Association between Y402H genotype and
prevalence of AMD in a high-risk
population
Y402H
TT (wild type)
TC
CC
Total
USE SALT
AMD = yes
39
118
120
277
AMD = no
378
528
276
1,182
(a) What is the relative risk for AMD for the CC genotype compared with the TT genotype? (Round your answer to two decimal places.)
(b) One issue is whether the Y402H gene is in Hardy-Weinberg equilibrium (HWE). For a gene to be in HWE, its two alleles must assort independently. Under HWE, what is the expected frequency (in percent) of the TC genotype among the 1,182 subjects in the AMD = no group? (Use a normal
approximation if appropriate. Round your answer to two decimal places.)
%
(c) Are the data consistent with HWE? Specifically, is the number of heterozygotes (TC) significantly lower than expected under HWE? (Use a normal approximation if appropriate. Round your answer to four decimal places.)
If we assume HWE holds
✔ for the Y402H gene, the probability of observing as many or fewer TC individuals without AMD as we do in our sample is
under HWE.
. This probability indicates the number of heterozygotes in our sample is
✔ much lower than expected
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