{"id":99,"date":"2009-02-02T12:01:00","date_gmt":"2009-02-02T12:01:00","guid":{"rendered":"http:\/\/jha.in\/heart-diseases-and-genetics\/"},"modified":"2009-02-02T12:01:00","modified_gmt":"2009-02-02T12:01:00","slug":"heart-diseases-and-genetics-2","status":"publish","type":"post","link":"https:\/\/jha.in\/?p=99","title":{"rendered":"Heart Diseases and Genetics."},"content":{"rendered":"<div xmlns='http:\/\/www.w3.org\/1999\/xhtml'><img decoding=\"async\" src=\"http:\/\/farm1.static.flickr.com\/110\/293277608_0fa427d99e.jpg?v=0\" style=\"max-width: 800px;\" \/><\/p>\n<p>As advances in genetics are made the influence of genes on individual&#8217;s health is all the more apparent. It is quite well known that people of South Asian origin are inordinately susceptible to heart diseases besides diabetes and associated metabolic syndromes. <\/p>\n<blockquote><p>Today&#8217;s Genetics Nature carries a paper delineating the high incidence of genetic mutation among Indians which is associated with Cardiomyopathy and heart failure.Heart failure is a leading cause of mortality in South Asians. However, its genetic etiology remains largely unknown<sup><a href=\"http:\/\/www.nature.com\/ng\/journal\/vaop\/ncurrent\/full\/ng.309.html#B1\">1<\/a><\/sup>. Cardiomyopathies due to sarcomeric mutations are a major monogenic cause for heart failure (MIM600958). Here, we describe a deletion of 25 bp in the gene encoding cardiac myosin binding protein C (<i>MYBPC3)<\/i> that is associated with heritable cardiomyopathies and an increased risk of heart failure in Indian populations (initial study OR = 5.3 (95% CI = 2.3\u201313), <i>P<\/i> = 2 <img decoding=\"async\" alt=\"times\" style=\"border: 0pt none ; vertical-align: middle;\" src=\"http:\/\/www.nature.com\/__chars\/math\/special\/times\/black\/med\/base\/glyph.gif\" \/> 10<sup>-6<\/sup>; replication study OR = 8.59 (3.19\u201325.05), <i>P<\/i> = 3 <img decoding=\"async\" alt=\"times\" style=\"border: 0pt none ; vertical-align: middle;\" src=\"http:\/\/www.nature.com\/__chars\/math\/special\/times\/black\/med\/base\/glyph.gif\" \/> 10<sup>-8<\/sup>; combined OR = 6.99 (3.68\u201313.57), <i>P<\/i> = 4 <img decoding=\"async\" alt=\"times\" style=\"border: 0pt none ; vertical-align: middle;\" src=\"http:\/\/www.nature.com\/__chars\/math\/special\/times\/black\/med\/base\/glyph.gif\" \/><sup>-11<\/sup>) and that disrupts cardiomyocyte structure <i>in vitro<\/i>. Its prevalence was found to be high (<img decoding=\"async\" alt=\"approx\" style=\"border: 0pt none ; vertical-align: baseline;\" src=\"http:\/\/www.nature.com\/__chars\/math\/special\/sim\/black\/med\/base\/glyph.gif\" \/>4%) in populations of Indian subcontinental ancestry. The finding of a common risk factor implicated in South Asian subjects with cardiomyopathy will help in identifying and counseling individuals predisposed to cardiac diseases in this region.<\/p><\/blockquote>\n<p>This article was further reported in Medical News Today<\/p>\n<p><a href=\"http:\/\/www.medicalnewstoday.com\/articles\/135894.php\">The Worst Luck In The World? The Heart Disease Mutation Carried By 60 Million<\/a><\/p>\n<blockquote><p>Heart disease is the number one killer in the world and India carries more than its share of this burden. Moreover, the problem is set to rise: it is predicted that by 2010 India&#8217;s population will suffer approximately 60% of the world&#8217;s heart disease. Today, an international team of 25 scientists from four countries provides a clue to why this is so: 1% of the world&#8217;s population carries a mutation almost guaranteed to lead to heart problems and most of these come from the Indian subcontinent, where the mutation reaches a frequency of 4%.<\/p><\/blockquote>\n<p>Considering that the mutation is so dangerous; how come it is so common? Well-<\/p>\n<blockquote><p>The combination of such a large risk with such a high frequency is, fortunately, unique. &#8220;How can such a harmful mutation be so common?&#8221; asks Chris Tyler-Smith from The Wellcome Trust Sanger Institute, Hinxton, UK. &#8220;We might expect such a deleterious change to have &#8216;died out&#8217;.<\/p>\n<p>&#8220;We think that the mutation arose around 30,000 years ago in India, and has been able to spread because its effects usually develop only after people have had their children. A case of chance genetic drift: simply terribly bad luck for the carriers.&#8221;<\/p><\/blockquote>\n<p>The original advanced online paper <a target=\"_blank\" href=\"http:\/\/www.nature.com\/ng\/journal\/vaop\/ncurrent\/pdf\/ng.309.pdf\" rel=\"noopener noreferrer\">is here( in pdf)<\/a><\/p>\n<p>Image: <a href=\"http:\/\/www.flickr.com\/photos\/topher76\/\">topher76<\/a><\/div>\n","protected":false},"excerpt":{"rendered":"<p>As advances in genetics are made the influence of genes on individual&#8217;s health is all the more apparent. It is quite well known that people of South Asian origin are inordinately susceptible to heart diseases besides diabetes and associated metabolic syndromes. Today&#8217;s Genetics Nature carries a paper delineating the high incidence of genetic mutation among [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-99","post","type-post","status-publish","format-standard","hentry","category-uncategorized","entry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Heart Diseases and Genetics.<\/title>\n<meta name=\"description\" content=\"Heart Diseases and Genetics.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"http:\/\/jha.in\/?p=99\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" 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