Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN: 9780134580999
Author: Elaine N. Marieb, Katja N. Hoehn
Publisher: PEARSON
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A study published in the journal PLoS One (https://doi.org/10.1371/journal.pone.0217796 ) in 2019 presented results of a GWAS searching for loci impacting the risk of prolonged QRS in Hispanic/Latino people living in the U.S. QRS prolongation has been associated heart failure and cardiovascular mortality. The Manhattan plot below summarizes the results. The significance threshold for this study is shown as a horizontal line at -log₁0(p-value) ~7.5. The names of candidate genes at each associated locus are shown at the top of the corresponding SNP tower. How many loci containing at least one gene affecting prolonged QRS risk were identified? -log10(p) C 10- 2 0 SCN5A-SCN10A 2 3 CDKN1A HAND1 6 7 8 VTI1A 201 9 10 11 SYT1 MYOCD : ... 12 13 14 15 16 17 18 19 20 2122 XY
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Transcribed Image Text:A study published in the journal PLoS One (https://doi.org/10.1371/journal.pone.0217796 ) in 2019 presented results of a GWAS searching for loci impacting the risk of prolonged QRS in Hispanic/Latino people living in the U.S. QRS prolongation has been associated heart failure and cardiovascular mortality. The Manhattan plot below summarizes the results. The significance threshold for this study is shown as a horizontal line at -log₁0(p-value) ~7.5. The names of candidate genes at each associated locus are shown at the top of the corresponding SNP tower. How many loci containing at least one gene affecting prolonged QRS risk were identified? -log10(p) C 10- 2 0 SCN5A-SCN10A 2 3 CDKN1A HAND1 6 7 8 VTI1A 201 9 10 11 SYT1 MYOCD : ... 12 13 14 15 16 17 18 19 20 2122 XY
-log10 (P-value) 30 25 20 15 10 5 0 B DLEC1- +ACAA1 OXSR1- MYD88- XYLB→ SLC22A13→ -LOC100128640 H SLC22A14→→→ H ACVR2B- T EXOG *SCN5A rs6801957 <SCN10A H +SCN11A WDR48→ +GORASP1 TTC21A- +CSRNP1 As shown in the Manhattan plot in previous question, the authors have identified a single best candidate gene for most loci identified in their study, but identified two candidate genes for the locus on chromosome 3: SCN5A and SCN10A. These are related genes that both encode cardiac sodium channels. The regional association plot for this locus is shown above, with gene models in this region shown below the plot. Based on the information shown here, why did the authors nominate SCN5A and SCN10A as candidate genes, but not SCN11A, another cardiac sodium channel gene adjacent to SCN10A? Limit your answer to 1-2 sentences.
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Transcribed Image Text:-log10 (P-value) 30 25 20 15 10 5 0 B DLEC1- +ACAA1 OXSR1- MYD88- XYLB→ SLC22A13→ -LOC100128640 H SLC22A14→→→ H ACVR2B- T EXOG *SCN5A rs6801957 <SCN10A H +SCN11A WDR48→ +GORASP1 TTC21A- +CSRNP1 As shown in the Manhattan plot in previous question, the authors have identified a single best candidate gene for most loci identified in their study, but identified two candidate genes for the locus on chromosome 3: SCN5A and SCN10A. These are related genes that both encode cardiac sodium channels. The regional association plot for this locus is shown above, with gene models in this region shown below the plot. Based on the information shown here, why did the authors nominate SCN5A and SCN10A as candidate genes, but not SCN11A, another cardiac sodium channel gene adjacent to SCN10A? Limit your answer to 1-2 sentences.
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Step 1: Introduce GWAS
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Step 2: Explanation of the loci
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Step 3: SCN5A and SCN10A as candidate gene
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Step 4: Conclusion
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