Malezya'daki Malaylar Arasında İrritabl Bağırsak Sendromu (IBS) ile ilişkili Tek Nükleotid Polimorfizmlerinin Genotip ve Alel Frekansları

Aim: Irritable bowel syndrome (IBS) defined by chronic or recurrent abdominal pain discomfort and changes in habits, is the most common functional gastrointestinal disorder. Studies proved that polymorphisms genes were one of key roles underlying IBS. This study aimed to investigate genotypes allele frequencies IBS-associated single nucleotide polymorphism (SNP) from GNB3 (rs54443) SCN5A (rs8015124) unrelated, healthy Malays Malaysia.
 Material Methods: The genomic DNA 404 subjects was set nested, multiplex, allele-specific PCR determine aforementioned SNPs. results validated through Sanger sequencing analysis.
 Results: possessed a slightly higher frequency wild (C) than mutant (T) alleles rs5443 with 56.3 vs 43.7%. However, equivalent subset Malay females (C-50%, T-50%). For rs1805124, only 18.6% carried G less 10 being homozygous GG carriers. Concurrently, Hardy-Weinberg equilibrium SNPs not deviated.
 Conclusion: IBS problem has significantly reduced life quality oneself become an economic burden societies. Though rather low, polymorphisms, rs1805124 noted be commonly present Malays. Further research on local patients recommended affirm association syndrome.