[An investigation of polymorphism in IL-1R1 gene in Chinese population and the functional prediction of a variation in the transmembrane region of IL-1R1].
OBJECTIVE
To identify the single nucleotide polymorphisms (SNPs) in the regulatory and coding regions of human interleukin-1 receptor type I (IL-1R1) gene and to assess their potential effect on the function of IL-1R1.


METHODS
The 5' flank region, exons, parts of the introns, as well as 3' flank region of IL-1R1 gene were sequenced to identify and characterize the SNPs in Chinese population. Effects of the SNP on the structure and function of IL-1R1 were analyzed by computational methods.


RESULTS
Sixteen SNPs were identified through a 9643 bp sequencing of IL-1R1 gene. Among them, four were in 5' flank region, four in intron region, one in coding region, and seven in 3' untranslated region. A novel SNP in Chinese population was involved in a structural change in IL-1R1, which may influence the signal transduction of IL-1R1.


CONCLUSIONS
The SNP in the IL-1R1 gene might influence its function as an important receptor of IL-1 family.
National Key Lab of Traumatic Medicine, Research Institute for Traffic Medicine, Research Institute of Surgery, Daping Hospital, the Third Military Medical University, Chongqing, 400042 PR China.
Kai
K
Feng
Gang-qiao
GQ
Zhou
Yun
Y
Zhai
Pei-fang
PF
Zhu
Zheng-guo
ZG
Wang
Fu-chu
FC
He
Jian-xin
JX
Jiang
D000595:Amino Acid Sequence; D044466:Asian People; D002462:Cell Membrane / Q000378:metabolism*; D019295:Computational Biology; D005091:Exons / Q000235:genetics; D006801:Humans; D057927:Hydrophobic and Hydrophilic Interactions; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D017433:Protein Structure, Secondary; D017434:Protein Structure, Tertiary; D053573:Receptors, Interleukin-1 Type I / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D017386:Sequence Homology, Amino Acid
D053573:Receptors, Interleukin-1 Type I