Bilirubin uridine diphosphate-glucuronosyltransferase variation is a genetic basis of breast milk jaundice.
Bilirubin uridine diphosphate-glucuronosyltransferase variation is a genetic basis of breast milk jaundice.
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DOI：
10.1016/j.jpeds.2014.01.060
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发表时间：
2014-07
影响因子：
5.1
通讯作者：
Takeuchi, Yoshihiro
中科院分区：
文献类型：
--
作者：
Maruo, Yoshihiro;Morioka, Yoriko;Fujito, Hiroshi;Nakahara, Sayuri;Yanagi, Takahide;Matsui, Katsuyuki;Mori, Asami;Sato, Hiroshi;Tukey, Robert H.;Takeuchi, Yoshihiro
目的：探讨胆红素UDP-葡萄糖醛酸基转移酶家族1多肽A1(UGT1A1)基因变异与母乳喂养相关的长时间高胆红素血症(BMJ)的关系。采用聚合酶链式反应-直接测序法对170例日本BMJ患儿的UGT1A1基因进行等位基因变异分析，并与血清胆红素水平进行比较。在170名婴儿中，有62名在出生4个月后对血清胆红素水平进行了跟踪观察。对55例无BMJ的婴儿进行了基因分型。在170例BMJ患儿中，88例(51.8%)为UGT1A1*6纯合子。血清胆红素水平(21.8±3.65 mg/dL)显著高于其他基因型(P<；0.0001)。除1例UGT1A1*6复合杂合子外，其余BMJ患儿均未检出Gilbert UGT1A1*28等位基因。4个月龄时，除2例UGT1A1*7纯合子外，血清胆红素浓度均升高至1 mg/dL。对照组未检出纯合子UGT1A1*6。BMJ婴儿中有一半是UGT1A1*6纯合子，其血清胆红素浓度明显高于其他基因型。这一发现表明，UGT1A1*6是东亚地区婴儿BMJ的主要原因。以前的发现表明，母乳中存在的5-β-孕烷-3-α，20-β-二醇抑制P.G71R-UGT1A1胆红素葡萄糖醛酸化活性。因此，接受母乳喂养的UGT1A1*6婴儿可能会出现长期的高未结合胆红素血症。
To evaluate the role of bilirubin UDP-glucuronosyltransferase family 1, polypeptide A1 (UGT1A1) gene variations on prolonged unconjugated hyperbilirubinemia associated with breast milk feeding (breast milk jaundice [BMJ]). UGT1A1 gene allelic variation was analyzed in 170 Japanese infants with BMJ with polymerase chain reaction-direct sequencing, and their genotypes compared with serum bilirubin concentrations. In 62 of 170 infants, serum bilirubin concentration was followed after 4 months of life. Genotypes were examined in 55 infants without BMJ. Of 170 infants with BMJ, 88 (51.8%) were homozygous UGT1A1*6. Serum bilirubin concentrations (21.8 ± 3.65 mg/dL) were significantly greater than in infants with other genotypes (P < .0001). The Gilbert UGT1A1*28 allele was not detected in infants with BMJ, except in an infant who was compound heterozygous with UGT1A1*6. At 4 months of age, serum bilirubin concentration improved to >1 mg/dL, except in 2 infants who were homozygous UGT1A1*7. Homozygous UGT1A1*6 was not detected in the control group. One-half of the infants with BMJ were homozygous UGT1A1*6 and exhibited a serum bilirubin concentration significantly greater than other genotypes. This finding indicates that UGT1A1*6 is a major cause of BMJ in infants in East Asia. Previous finding have demonstrated that 5β-pregnane-3α,20β-diol present in breast milk inhibits p.G71R-UGT1A1 bilirubin glucuronidation activity. Thus, prolonged unconjugated hyperbilirubinemia may develop in infants with UGT1A1*6 who are fed breast milk.
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影响因子：
3.6
作者：
Huang, MJ;Kua, KE;Huang, CS
通讯作者：
Huang, CS
DOI：
10.1073/pnas.0913290107
发表时间：
2010-03-16
影响因子：
11.1
作者：
Fujiwara, Ryoichi;Nguyen, Nghia;Tukey, Robert H.
通讯作者：
Tukey, Robert H.
影响因子：
3.6
作者：
CONSTANTOPOULOS, A;MESSARITAKIS, J;MATSANIOTIS, N
通讯作者：
MATSANIOTIS, N
影响因子：
3.6
作者：
Maruo, Y;Wada, S;Shimada, M
通讯作者：
Shimada, M
影响因子：
5.3
作者：
Maruo, Y;D' Addario, C;Takeuchi, Y
通讯作者：
Takeuchi, Y