The Journal of surgical research · 2018
Combined Genetic Effects of RET and NRG1 Susceptibility Variants on Multifactorial Hirschsprung Disease in Indonesia.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Gunadi, Iskandar Kristy, Makhmudi Akhmad, Kapoor Ashish
Аннотация
BACKGROUND: Specific genetic variants at RET (rs2435357) and NRG1 (rs7835688, rs16879552) are associated with Hirschsprung disease (HSCR) in Indonesia. This study aimed to investigate the additional effect of RET rs2506030 on these variants to determine its potential interactions in HSCR patients of Indonesian ancestry.
METHODS: Sixty HSCR patients and 122 non-HSCR controls were ascertained for this study and genotyped for RET rs2506030 using the TaqMan assay.
RESULTS: RET rs2506030 was associated with HSCR both by case-control analysis (odds ratio = 1.68; P = 0.043) and the transmission disequilibrium test (P = 0.034). Furthermore, individuals with five or six risk alleles at RET rs2506030, rs2435357 and NRG1 rs7835688 showed ∼45-fold higher HSCR risk than those with 0 or 1 or 2 risk alleles.
CONCLUSIONS: Disease risk of HSCR is increased by the combination of specific RET and NRG1 susceptibility variants.
METHODS: Sixty HSCR patients and 122 non-HSCR controls were ascertained for this study and genotyped for RET rs2506030 using the TaqMan assay.
RESULTS: RET rs2506030 was associated with HSCR both by case-control analysis (odds ratio = 1.68; P = 0.043) and the transmission disequilibrium test (P = 0.034). Furthermore, individuals with five or six risk alleles at RET rs2506030, rs2435357 and NRG1 rs7835688 showed ∼45-fold higher HSCR risk than those with 0 or 1 or 2 risk alleles.
CONCLUSIONS: Disease risk of HSCR is increased by the combination of specific RET and NRG1 susceptibility variants.