{"id":1500,"date":"2020-07-25T14:44:18","date_gmt":"2020-07-25T14:44:18","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1500"},"modified":"2026-02-23T23:53:52","modified_gmt":"2026-02-23T23:53:52","slug":"otitis-media-susceptibility-and-shifts-in-the-head-and-neck-microbiome-due-to-spink5-variants","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/07\/25\/otitis-media-susceptibility-and-shifts-in-the-head-and-neck-microbiome-due-to-spink5-variants\/","title":{"rendered":"Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants (Contributed by Dr. Regie Lyn Santos-Cortez)"},"content":{"rendered":"<p>A novel genetic variant within\u00a0<em>SPINK5<\/em>\u00a0was identified<em>\u00a0<\/em>in an indigenous population that has a high prevalence of otitis media (middle ear infections). Although\u00a0<em>SPINK5\u00a0<\/em>was previously associated with a syndromic disease with predominant skin and hair abnormalities, the individuals who carry the novel\u00a0<em>SPINK5\u00a0<\/em>variant had non-syndromic\u00a0otitis media. Our findings are further supported by tissue expression and bacterial studies, and additional\u00a0<em>SPINK5\u00a0<\/em>variants from individuals of different ethnic background who also have otitis media. These findings add to the growing knowledge base for genetic diagnosis and for repurposing of known treatments for diseases due to rare variants. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/07\/24\/jmedgenet-2020-106844\">https:\/\/jmg.bmj.com\/content\/early\/2020\/07\/24\/jmedgenet-2020-106844<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/07\/25\/otitis-media-susceptibility-and-shifts-in-the-head-and-neck-microbiome-due-to-spink5-variants\/jmedgenet-2020-106844-f1-large\/\" rel=\"attachment wp-att-1501\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1501\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/07\/jmedgenet-2020-106844-F1.large_-300x224.jpg\" alt=\"\" width=\"300\" height=\"224\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/07\/jmedgenet-2020-106844-F1.large_-300x224.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/07\/jmedgenet-2020-106844-F1.large_-1024x764.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/07\/jmedgenet-2020-106844-F1.large_-768x573.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/07\/jmedgenet-2020-106844-F1.large_-640x478.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/07\/jmedgenet-2020-106844-F1.large_.jpg 1280w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>A novel genetic variant within\u00a0SPINK5\u00a0was identified\u00a0in an indigenous population that has a high prevalence of otitis media (middle ear infections). Although\u00a0SPINK5\u00a0was previously associated with a syndromic disease with predominant skin and hair abnormalities, the individuals who carry the novel\u00a0SPINK5\u00a0variant had non-syndromic\u00a0otitis media. Our findings are further supported by tissue expression and bacterial studies, and additional\u00a0SPINK5\u00a0variants [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/07\/25\/otitis-media-susceptibility-and-shifts-in-the-head-and-neck-microbiome-due-to-spink5-variants\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1500","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants (Contributed by Dr. Regie Lyn Santos-Cortez) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/07\/25\/otitis-media-susceptibility-and-shifts-in-the-head-and-neck-microbiome-due-to-spink5-variants\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants (Contributed by Dr. Regie Lyn Santos-Cortez) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"A novel genetic variant within\u00a0SPINK5\u00a0was identified\u00a0in an indigenous population that has a high prevalence of otitis media (middle ear infections). Although\u00a0SPINK5\u00a0was previously associated with a syndromic disease with predominant skin and hair abnormalities, the individuals who carry the novel\u00a0SPINK5\u00a0variant had non-syndromic\u00a0otitis media. Our findings are further supported by tissue expression and bacterial studies, and additional\u00a0SPINK5\u00a0variants [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/07\/25\/otitis-media-susceptibility-and-shifts-in-the-head-and-neck-microbiome-due-to-spink5-variants\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-07-25T14:44:18+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T23:53:52+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/07\/jmedgenet-2020-106844-F1.large_.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1280\" \/>\n\t<meta property=\"og:image:height\" content=\"955\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/07\\\/25\\\/otitis-media-susceptibility-and-shifts-in-the-head-and-neck-microbiome-due-to-spink5-variants\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/07\\\/25\\\/otitis-media-susceptibility-and-shifts-in-the-head-and-neck-microbiome-due-to-spink5-variants\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants (Contributed by Dr. Regie Lyn Santos-Cortez)\",\"datePublished\":\"2020-07-25T14:44:18+00:00\",\"dateModified\":\"2026-02-23T23:53:52+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/07\\\/25\\\/otitis-media-susceptibility-and-shifts-in-the-head-and-neck-microbiome-due-to-spink5-variants\\\/\"},\"wordCount\":128,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/07\\\/25\\\/otitis-media-susceptibility-and-shifts-in-the-head-and-neck-microbiome-due-to-spink5-variants\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/07\\\/jmedgenet-2020-106844-F1.large_-300x224.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/07\\\/25\\\/otitis-media-susceptibility-and-shifts-in-the-head-and-neck-microbiome-due-to-spink5-variants\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/07\\\/25\\\/otitis-media-susceptibility-and-shifts-in-the-head-and-neck-microbiome-due-to-spink5-variants\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/07\\\/25\\\/otitis-media-susceptibility-and-shifts-in-the-head-and-neck-microbiome-due-to-spink5-variants\\\/\",\"name\":\"Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants (Contributed by Dr. Regie Lyn Santos-Cortez) - 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