Significant Association of rs2147555 Genetic Polymorphism in the <i>EDNRB</i> Gene with Hirschsprung Disease in Southern Chinese Children

<div>(a) Overview of linkage disequilibrium (LD) of the 10 kb region around intron 2 of <i>EDNRB</i>. The LD structure around SNP rs2147555 was derived from the genotyping data of SNPs from the 1000 Genomes Project Southern Han Chinese (CHS) (<a href="http://uswest.ensembl.org/Homo_sapiens/Location/LD?db=core;r=13%3A77900000-77910000">http://uswest.ensembl.org/Homo_sapiens/Location/LD?db=core;r=13%3A77900000-77910000</a>). The pairwise correlation between SNPs was measured as <span class="nowrap"><svg height="11.7978pt" id="M46" style="vertical-align:-0.2063999pt" version="1.1" viewbox="-0.0498162 -11.5914 10.5526 11.7978" width="10.5526pt" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink"><g transform="matrix(.013,0,0,-0.013,0,0)"><path d="M393 379C402 394 400 411 393 422C384 437 365 448 348 448C301 448 237 372 186 285H182L193 335C210 408 205 448 178 448C150 448 80 402 29 344L45 321C80 355 114 373 122 373C128 373 130 365 124 330C106 228 76 98 50 -5L57 -12C82 -5 112 3 132 6L172 203C196 256 234 304 254 329C275 355 293 367 306 367C318 367 330 360 342 348C347 343 355 343 365 350S386 367 393 379Z"></path></g><g transform="matrix(.0091,0,0,-0.0091,5.488,-5.741)"><path d="M414 144C384 79 371 75 317 75H135L276 221C367 316 408 376 408 465C408 570 327 635 237 635C179 635 131 609 100 575L42 494L67 471C94 510 138 565 205 565C277 565 321 517 321 435C321 348 258 270 195 195C146 137 88 81 33 26V0H411C423 44 433 88 446 135L414 144Z"></path></g></svg>,</span> and red refers to <span class="nowrap"><svg height="11.7978pt" id="M47" style="vertical-align:-0.2063999pt" version="1.1" viewbox="-0.0498162 -11.5914 31.7393 11.7978" width="31.7393pt" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink"><g transform="matrix(.013,0,0,-0.013,0,0)"><path d="M393 379C402 394 400 411 393 422C384 437 365 448 348 448C301 448 237 372 186 285H182L193 335C210 408 205 448 178 448C150 448 80 402 29 344L45 321C80 355 114 373 122 373C128 373 130 365 124 330C106 228 76 98 50 -5L57 -12C82 -5 112 3 132 6L172 203C196 256 234 304 254 329C275 355 293 367 306 367C318 367 330 360 342 348C347 343 355 343 365 350S386 367 393 379Z"></path></g><g transform="matrix(.0091,0,0,-0.0091,5.488,-5.741)"><path d="M414 144C384 79 371 75 317 75H135L276 221C367 316 408 376 408 465C408 570 327 635 237 635C179 635 131 609 100 575L42 494L67 471C94 510 138 565 205 565C277 565 321 517 321 435C321 348 258 270 195 195C146 137 88 81 33 26V0H411C423 44 433 88 446 135L414 144Z"></path></g><g transform="matrix(.013,0,0,-0.013,14.066,0)"><path d="M535 323V373H52V323H535ZM535 138V188H52V138H535Z"></path></g><g transform="matrix(.013,0,0,-0.013,25.329,0)"><path d="M384 0V27C293 34 287 42 287 114V635C232 613 172 594 109 583V559L157 557C201 555 205 550 205 499V114C205 42 199 34 109 27V0H384Z"></path></g></svg>.</span> Exons are marked with yellow boxes. The direction of <i>EDNRB</i> transcription is to the left as marked by the arrows. (b) The LD structure between SNP rs2147555 and exons is predicted based on the 1000 Genomes Project for the Han Chinese in Beijing (CHB) population.</div>

BioMed Research International

fig1

Figure 1

Figure 1: Significant Association of rs2147555 Genetic Polymorphism in the <i>EDNRB</i> Gene with Hirschsprung Disease in Southern Chinese Children 

BioMed Research International

Significant Association of rs2147555 Genetic Polymorphism in the EDNRB Gene with Hirschsprung Disease in Southern Chinese Children

Figure 1