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Imaging, Genetic Testing Reveal that Tyrolean Iceman had Genetic Predisposition for Atherosclerosis

By MedImaging International staff writers
Posted on 13 Aug 2014
Image: Reconstruction of the Iceman “Ötzi“ as presented in the South Tyrolean Archaeology Museum showing the Iceman with brown eyes based on the genetic analysis (Photo courtesy of the South Tyrol Museum of Archaeology, Photo Ochsenreiter).
Image: Reconstruction of the Iceman “Ötzi“ as presented in the South Tyrolean Archaeology Museum showing the Iceman with brown eyes based on the genetic analysis (Photo courtesy of the South Tyrol Museum of Archaeology, Photo Ochsenreiter).
Although prevalence and types of risk factors for atherosclerosis have varied over time from ancient times to modern society (such as levels of obesity, physical activity), genetic predisposition/risk for the disorder now appears to be very similar to that in ancient times, according to new imaging and genetic findings gleaned from a 300-year-old glacier mummy.

The study’s findings were published in the July 2014 issue of Global Heart, the journal of the World Heart Federation, authored by Prof. Albert Zink, Institute for Mummies and the Iceman, European Academy of Bolzano/Bozen (EURAC; Bolzano/Bozen, Italy), and colleagues.

Although advanced imaging techniques have been employed to identify atherosclerosis in the mummified remains of multiple cultures, evidence of genetic predisposition has been more difficult to gather because of the degradation of the genetic material over time. However, in an earlier whole-genome study of the Tyrolean Iceman, a 5,300-year-old glacier mummy from the Alps, an increased risk for coronary heart disease was detected. The Iceman’s genome revealed several single nucleotide polymorphisms (SNPs) that have been linked with modern day cardiovascular disease in the many genome-wide association studies that have been published across the past 10 years.

The remains of the Iceman have undergone extensive analysis, however for the purposes of this paper the most intriguing finding was that the Iceman showed a strong genetic predisposition for increased risk for coronary heart disease (CHD). This is of particular interest as the computed tomography (CT) imaging scans of the Iceman already had revealed major calcification in several major blood vessels, including the carotid arteries, distal aorta, and right iliac artery, which are strong signs of generalized atherosclerotic disease. The scientists reported that other standard cardiac risk factors, such as being overweight, tobacco smoking, lack of physical activity, and a high fat diet, can generally be ruled out in a person from this time period.

In particular, the genetic sequencing data demonstrates that the Iceman had a very specific genetic mutation, namely, that he was homozygous for the minor allele (GG) of rs10757274, located in chromosomal region 9p21. This SNP is currently regarded as being among the strongest genetic predictors of heart attacks and has been confirmed in several studies as a major risk locus for CHD.

Regarding the suggestion that human ancestors lived much cleaner and active lives, free from all risks of heart disease compared with modern day sedentary lifestyles, the authors commented: “Wrong. Our ancestors going back thousands of years show signs of atherosclerosis, as suggested by modern research using CT to detect evidence of calcium deposits associated with atherosclerotic plaques in the arteries of mummies as old as 5,000 years. Even though our human ancestors lived far different lives than we do, their environments and lifestyles were not protecting them against the development of atherosclerosis. What is similar between now and then is the human genetic material, our genome, including ancient polymorphisms that were uncovered to predispose the carrier to the development of atherosclerotic cardiovascular disease...however, our ancient ancestors were certainly susceptible to many other conditions, such as infectious diseases, nutritional deprivation, and trauma, which often resulted in death at an early age, before atherosclerotic heart disease had a clinical impact.”

The authors reported in their article, “Until now, the Iceman is the only ancient human remain in which a genetic predisposition for cardiovascular disease has been detected...future genetic studies of ancient humans from various geographic origins and time periods have the potential to provide more insights into the presence and possible changes of genetic risk factors in our ancestors. The study of ancient humans and a better understanding of the interaction between environmental and genetic influences on the development of heart diseases may lead to a more effective prevention and treatment of the most common cause of death in the modern world.”

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83 (27.894973754883): SELECT show_live FROM jos_com_show_setting LIMIT 1
84 (29.087066650391): SELECT show_live FROM jos_com_show_setting LIMIT 1
85 (28.133392333984): SELECT show_live FROM jos_com_show_setting LIMIT 1
86 (35.04753112793): SELECT show_live FROM jos_com_show_setting LIMIT 1
87 (523.80561828613): SELECT fid FROM jos_deeppockets WHERE cat=10 AND id=294753946 AND (type='deeppockets_item' OR type='deeppockets_item_link') AND published='1' LIMIT 1
88 (137.0906829834): SELECT fid FROM jos_deeppockets_archive WHERE cat=10 AND id=294753946 AND (type='deeppockets_item' OR type='deeppockets_item_link') AND published='1' LIMIT 1
89 (77.962875366211): SELECT id,name,title FROM jos_deeppockets WHERE cat=10 AND TYPE='file_folder' AND published=1 AND id != 294743300 AND id != 294743301 AND id != 294743302 AND id != 294743303 AND id != 294743304 AND id != 294743305 AND id != 294743306 AND id != 294743307 AND id != 294743308 AND id != 294743309 AND id != 294743310 AND metakey != 'aacc' ORDER BY `ordering`
90 (!!!!! 3666.877746582): SELECT show_live FROM jos_com_show_setting LIMIT 1
91 (!!!!! 3238.9163970947): SELECT show_live FROM jos_com_show_setting LIMIT 1
92 (73.19450378418): SELECT show_live FROM jos_com_show_setting LIMIT 1
93 (41.961669921875): SELECT show_live FROM jos_com_show_setting LIMIT 1
94 (268.93615722656): SELECT show_live FROM jos_com_show_setting LIMIT 1
95 (123.02398681641): SELECT show_live FROM jos_com_show_setting LIMIT 1
96 (325.91819763184): SELECT show_live FROM jos_com_show_setting LIMIT 1
97 (110.14938354492): SELECT show_live FROM jos_com_show_setting LIMIT 1
98 (952.95906066895): SELECT show_live FROM jos_com_show_setting LIMIT 1
99 (141.85905456543): SELECT show_live FROM jos_com_show_setting LIMIT 1
100 (74.148178100586): SELECT show_live FROM jos_com_show_setting LIMIT 1
101 (102.04315185547): SELECT show_live FROM jos_com_show_setting LIMIT 1
102 (71.048736572266): SELECT show_live FROM jos_com_show_setting LIMIT 1
103 (97.990036010742): SELECT show_live FROM jos_com_show_setting LIMIT 1
104 (!!!!! 1375.9136199951): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294753946 AND published='1' LIMIT 1
105 (82.969665527344): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294753946 AND published='1' LIMIT 1
106 (163.07830810547): SELECT dp.*, ch.title as channel, exp.name as author_name, exp.specialization as author_specialization, exp.images as author_photo FROM jos_deeppockets as dp LEFT JOIN jos_experts as exp ON exp.id = dp.author LEFT JOIN jos_deeppockets as ch ON dp.fid = ch.id WHERE 1=1 AND dp.cat=10 AND dp.id=294753946 AND (dp.type='deeppockets_item' OR dp.type='deeppockets_item_link') AND dp.published='1' LIMIT 1
107 (!!!!! 1060.0090026855): SELECT dp.*, ch.title as channel, exp.name as author_name, exp.specialization as author_specialization, exp.images as author_photo FROM jos_deeppockets_archive as dp LEFT JOIN jos_experts as exp ON exp.id = dp.author LEFT JOIN jos_deeppockets as ch ON dp.fid = ch.id WHERE 1=1 AND dp.cat=10 AND dp.id=294753946 AND (dp.type='deeppockets_item' OR dp.type='deeppockets_item_link') AND dp.published='1' LIMIT 1
108 (!!!!! 4675.8651733398): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294753946 AND published='1' LIMIT 1
109 (74.863433837891): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294753946 AND published='1' LIMIT 1
110 (994.92073059082): SELECT dp.*, ch.title as channel, exp.name as author_name, exp.specialization as author_specialization, exp.images as author_photo FROM jos_deeppockets as dp LEFT JOIN jos_experts as exp ON exp.id = dp.author LEFT JOIN jos_deeppockets as ch ON dp.fid = ch.id WHERE 1=1 AND dp.id=294753946 AND (dp.type='deeppockets_item' OR dp.type='deeppockets_item_link') AND dp.published='1' LIMIT 1
111 (!!!!! 4161.8347167969): SELECT dp.*, ch.title as channel, exp.name as author_name, exp.specialization as author_specialization, exp.images as author_photo FROM jos_deeppockets_archive as dp LEFT JOIN jos_experts as exp ON exp.id = dp.author LEFT JOIN jos_deeppockets as ch ON dp.fid = ch.id WHERE 1=1 AND dp.id=294753946 AND (dp.type='deeppockets_item' OR dp.type='deeppockets_item_link') AND dp.published='1' LIMIT 1
112 (!!!!! 1672.9831695557): SELECT dp.name, dp.id, dp2.name as channel, ex.name as author_name, ex.specialization, ex.images FROM jos_deeppockets as dp LEFT JOIN jos_experts as ex ON ex.id = dp.author LEFT JOIN jos_deeppockets as dp2 ON dp2.id = dp.fid WHERE dp.author != 0 AND dp.cat = 10 AND dp.published = 1 AND ( (dp.fid = 294743300) OR (dp.fid = 294743301) OR (dp.fid = 294743302) OR (dp.fid = 294743303) OR (dp.fid = 294743304) OR (dp.fid = 294743305) OR (dp.fid = 294743306) OR (dp.fid = 294743307) OR (dp.fid = 294743308) OR (dp.fid = 294743309) OR (dp.fid = 294743310) ) ORDER BY RAND() LIMIT 1
113 (771.99935913086): SELECT dp.name, dp.id, dp2.name as channel, ex.name as author_name, ex.specialization, ex.images FROM jos_deeppockets as dp LEFT JOIN jos_experts as ex ON ex.id = dp.author LEFT JOIN jos_deeppockets as dp2 ON dp2.id = dp.fid WHERE dp.author != 0 AND dp.cat = 10 AND dp.published = 1 AND ( (dp.fid = 294743300) OR (dp.fid = 294743301) OR (dp.fid = 294743302) OR (dp.fid = 294743303) OR (dp.fid = 294743304) OR (dp.fid = 294743305) OR (dp.fid = 294743306) OR (dp.fid = 294743307) OR (dp.fid = 294743308) OR (dp.fid = 294743309) OR (dp.fid = 294743310) ) ORDER BY RAND() LIMIT 1
114 (817.06047058105): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294753946 AND published='1' LIMIT 1
115 (460.86311340332): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294753946 AND published='1' LIMIT 1
116 (!!!!! 1312.9711151123): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294753946 AND published='1' LIMIT 1
117 (408.88786315918): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294753946 AND published='1' LIMIT 1
118 (965.11840820312): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294753946 AND published='1' LIMIT 1
119 (195.02639770508): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294753946 AND published='1' LIMIT 1
120 (!!!!! 4729.0325164795): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294753946 AND published='1' LIMIT 1
121 (339.03121948242): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294753946 AND published='1' LIMIT 1
122 (861.16790771484): SELECT * FROM trending_articles WHERE `journal_id` = 10 AND `timestamp` <= NOW() + INTERVAL 7 DAY ORDER BY `order`
123 (!!!!! 55649.995803833): SELECT * FROM jos_deeppockets WHERE jos_deeppockets.cat = 10 AND jos_deeppockets.type = 'deeppockets_item' AND jos_deeppockets.published = 1 AND jos_deeppockets.created + INTERVAL 14 DAY >= NOW() ORDER BY jos_deeppockets.hits DESC LIMIT 7
124 (!!!!! 1467.9431915283): SELECT fid FROM jos_deeppockets WHERE cat=10 AND id=294753946 AND type='deeppockets_item' AND published='1' union SELECT fid FROM jos_deeppockets_archive WHERE cat=10 AND id=294753946 AND type='deeppockets_item' AND published='1' LIMIT 1
125 (704.05006408691): ( SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.video != '' AND dp.video_source != '' AND dp.cat = 10 AND dp.published = 1 AND dp.type != 'deeppockets_item_link' ORDER BY created DESC LIMIT 3 ) UNION ( SELECT dpa.id, dpa.name, dpa.title, dpa.video, dpa.video_source, dpa.created FROM jos_deeppockets_archive AS dpa WHERE dpa.video != '' AND dpa.video_source != '' AND dpa.cat = 10 AND dpa.published = 1 AND dpa.type != 'deeppockets_item_link' ORDER BY created DESC LIMIT 3 ) ORDER BY created DESC LIMIT 3
126 (!!!!! 1671.0758209229): ( SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.video != '' AND dp.video_source != '' AND dp.cat = 10 AND dp.published = 1 AND dp.type != 'deeppockets_item_link' ORDER BY created DESC LIMIT 3 ) UNION ( SELECT dpa.id, dpa.name, dpa.title, dpa.video, dpa.video_source, dpa.created FROM jos_deeppockets_archive AS dpa WHERE dpa.video != '' AND dpa.video_source != '' AND dpa.cat = 10 AND dpa.published = 1 AND dpa.type != 'deeppockets_item_link' ORDER BY created DESC LIMIT 3 ) ORDER BY created DESC LIMIT 3
127 (38.862228393555): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.id = 294803337 LIMIT 1
128 (33.140182495117): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.id = 294803337 LIMIT 1
129 (257.96890258789): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.id = 294803276 LIMIT 1
130 (36.954879760742): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.id = 294803276 LIMIT 1
131 (37.908554077148): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets_archive AS dp WHERE dp.id = 294803276 LIMIT 1
132 (41.961669921875): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets_archive AS dp WHERE dp.id = 294803276 LIMIT 1
133 (356.91261291504): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.id = 294802958 LIMIT 1
134 (37.908554077148): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.id = 294802958 LIMIT 1
135 (452.04162597656): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND (type='deeppockets_item' OR type='deeppockets_item_link') AND published='1' LIMIT 1
136 (!!!!! 1412.8684997559): SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294753946 AND (type='deeppockets_item' OR type='deeppockets_item_link') AND published='1' LIMIT 1
137 (!!!!! 2995.0141906738): SELECT name FROM jos_deeppockets WHERE id=211
138 (479.93659973145): SELECT name FROM jos_deeppockets WHERE id=211
139 (858.06846618652): SELECT *, DATE_FORMAT(publish_up,'%d %b %Y') AS date_publish_up, DATE_FORMAT(publish_down,'%d %b %Y') AS date_publish_down FROM jos_events WHERE state=1 AND publish_up > NOW() and extra_info REGEXP '((;)|(^))211((;)|($))' AND catid IN (0,110) ORDER BY publish_up ASC LIMIT 3
140 (!!!!! 5643.8446044922): SELECT *, DATE_FORMAT(publish_up,'%d %b %Y') AS date_publish_up, DATE_FORMAT(publish_down,'%d %b %Y') AS date_publish_down FROM jos_events WHERE state=1 AND publish_up > NOW() and extra_info REGEXP '((;)|(^))211((;)|($))' AND catid IN (0,110) ORDER BY publish_up ASC LIMIT 3
141 (!!!!! 1955.0323486328): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294753946 AND published='1' LIMIT 1
142 (!!!!! 2762.0792388916): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294753946 AND published='1' LIMIT 1
143 (!!!!! 18053.05480957): TRUNCATE TABLE jos_trademed_module
144 (252.00843811035): SELECT dp.*, ch.title as channel, exp.name as author_name, exp.specialization as author_specialization, exp.images as author_photo FROM jos_deeppockets as dp LEFT JOIN jos_experts as exp ON exp.id = dp.author LEFT JOIN jos_deeppockets as ch ON dp.fid = ch.id WHERE 1=1 AND dp.cat=10 AND dp.id=294753946 AND (dp.type='deeppockets_item' OR dp.type='deeppockets_item_link') AND dp.published='1' LIMIT 1
145 (242.94853210449): SELECT dp.*, ch.title as channel, exp.name as author_name, exp.specialization as author_specialization, exp.images as author_photo FROM jos_deeppockets_archive as dp LEFT JOIN jos_experts as exp ON exp.id = dp.author LEFT JOIN jos_deeppockets as ch ON dp.fid = ch.id WHERE 1=1 AND dp.cat=10 AND dp.id=294753946 AND (dp.type='deeppockets_item' OR dp.type='deeppockets_item_link') AND dp.published='1' LIMIT 1
146 (769.85359191895): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND (type='deeppockets_item' OR type='deeppockets_item_link') AND published='1' LIMIT 1
147 (!!!!! 3805.1605224609): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND (type='deeppockets_item' OR type='deeppockets_item_link') AND published='1' LIMIT 1
148 (459.90943908691): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294753946 AND published='1' LIMIT 1
149 (58.174133300781): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294753946 AND published='1' LIMIT 1
150 (!!!!! 1148.9391326904): SELECT jos_item.* FROM jos_item INNER JOIN jos_number ON jos_item.numberID=jos_number.id WHERE 1=1 AND (jos_item.imgMini<>'') AND jos_item.type='L' AND jos_item.numberID= ( SELECT jos_number.id FROM jos_number WHERE jos_number.journalID IN (10) and jos_number.id in (select distinct jos_number.id from jos_number join jos_item on jos_item.numberid=jos_number.id where jos_item.type='P') ORDER BY (CONVERT(SUBSTRING(issue,1,2),SIGNED) + (CONVERT(SUBSTRING(issue,3,2),SIGNED)*100)) DESC LIMIT 0,1 ) ORDER BY RAND() DESC LIMIT 6
151 (91.791152954102): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294753946 AND published='1' LIMIT 1
152 (56.982040405273): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294753946 AND published='1' LIMIT 1
153 (108.00361633301): SELECT fid FROM jos_deeppockets WHERE cat=10 AND id=294753946 AND type='deeppockets_item' AND published='1' union SELECT fid FROM jos_deeppockets_archive WHERE cat=10 AND id=294753946 AND type='deeppockets_item' AND published='1' LIMIT 1
154 (!!!!! 2080.9173583984): select distinct links.* from jos_textlinks links join jos_textlinks_placement placement on links.id=placement.link_id where journal_id=(10) and (channel_id=211 or channel_id is null)
155 (807.04689025879): select distinct links.* from jos_textlinks links join jos_textlinks_placement placement on links.id=placement.link_id where journal_id=(10) and (channel_id=211 or channel_id is null)
156 (!!!!! 2092.1230316162): SELECT livesite FROM jos_dp_categories WHERE id=10 AND published='1' LIMIT 1
157 (884.05609130859): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294753946 AND published='1' LIMIT 1
158 (!!!!! 4448.8906860352): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294753946 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294753946 AND published='1' LIMIT 1
159 (59.843063354492): select jos_twitters.link from jos_twitters where cat=10
160 (33.140182495117): select jos_facebook.link from jos_facebook where cat=10
161 (33.855438232422): select jos_google_plus.link from jos_google_plus where cat=10
162 (34.093856811523): select jos_linkedin.link from jos_linkedin where cat=10