乳糖吸收不良高发地区肠易激综合征中的乳糖酶持续/非持续遗传变异。
Lactase persistence/non-persistence genetic variants in irritable bowel syndrome in an endemic area for lactose malabsorption.
机构信息
Department of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Science, Lucknow, Uttar Pradesh, India.
出版信息
J Gastroenterol Hepatol. 2012 Dec;27(12):1825-30. doi: 10.1111/j.1440-1746.2012.07259.x.
BACKGROUND AND AIM
Lactase non-persistence is common in India. We evaluated: (i) frequency of lactase gene (C/T-13910 and G/A-22018) polymorphisms in irritable bowel syndrome (IBS) and healthy controls (HC), (ii) association between these polymorphisms and IBS-subtypes and symptoms.
METHODS
A total of 150 IBS patients (Rome-III criteria) and 252 age and gender-matched HC were evaluated for C/T-13910 and G/A-22018 genotypes using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
RESULTS
Totals of 79 (52%), 52 (35%) and 19 (13%) patients had diarrhea-predominant IBS (D-IBS), constipation predominant IBS (C-IBS) and alternating diarrhea and constipation IBS (A-IBS), respectively (Rome-III). Frequency of C/T-13910 [genotypes: CC 102 (68%), CT 43 (29%), TT 5 (3%) vs CC 155 (61%), CT 83 (33%), TT 14 (6%), P > 0.05] and G/A-22018 [GG 97 (65%), GA 41 (27%), AA 12 (8%) vs GG 154 (61%), GA 78 (31%), AA 20 (8%), P > 0.05] were similar among IBS and HC. Patients with D-IBS more often had C/T-13910 and G/A-22018 genotypes than C-IBS (CC 71 [90%], CT 6 [8%], TT 2 [2%]) versus (24 [46%], 25 [48%], 3 [6%]), A-IBS (7 [39%], 12 [63%], 0, [0%]) and HC (155 [61%], 83 [33%], 14 [6%]), P < 0.0001 and (GG 69 [87%], GA 6 [8%], AA 4 [5%]) vs (22 [42%], 24 [46%], 6 [12%]) vs (6 [32%], 11 [58%], 2 [10%]), P < 0.0001. IBS with CC and GG genotypes more often had abdominal pain (P = 0.005), distension (P = 0.031) and higher stool frequency (P = 0.003) and reported symptoms following dairy products than non-CC (P < 0.0001).
CONCLUSION
Though C/T-13910 and G/A-22018 polymorphisms were comparable among IBS and HC, these were more common among D-IBS and reported some symptoms like abdominal pain, bloating and exacerbation by dairy products.
背景与目的
乳糖不耐受在印度很常见。我们评估了：（i）肠易激综合征（IBS）和健康对照（HC）中乳糖酶基因（C/T-13910 和 G/A-22018）多态性的频率，（ii）这些多态性与 IBS 亚型和症状的关系。
方法
共评估了 150 例 IBS 患者（Rome-III 标准）和 252 例年龄和性别匹配的 HC，采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测 C/T-13910 和 G/A-22018 基因型。
结果
分别有 79 例（52%）、52 例（35%）和 19 例（13%）患者为腹泻型 IBS（D-IBS）、便秘型 IBS（C-IBS）和交替腹泻和便秘 IBS（A-IBS）（Rome-III）。C/T-13910 [基因型：CC 102（68%），CT 43（29%），TT 5（3%）vs CC 155（61%），CT 83（29%），TT 14（6%），P>0.05]和 G/A-22018 [基因型：GG 97（65%），GA 41（27%），AA 12（8%）vs GG 154（61%），GA 78（31%），AA 20（8%），P>0.05]在 IBS 和 HC 中相似。D-IBS 患者的 C/T-13910 和 G/A-22018 基因型比 C-IBS 更常见（CC 71 [90%]，CT 6 [8%]，TT 2 [2%]）与（24 [46%]，25 [48%]，3 [6%]），A-IBS（7 [39%]，12 [63%]，0 [0%]）和 HC（155 [61%]，83 [33%]，14 [6%]），P<0.0001 和（GG 69 [87%]，GA 6 [8%]，AA 4 [5%]）比（22 [42%]，24 [46%]，6 [12%]）比（6 [32%]，11 [58%]，2 [10%]），P<0.0001。CC 和 GG 基因型的 IBS 患者更常出现腹痛（P=0.005）、腹胀（P=0.031）和更高的排便频率（P=0.003），并报告食用乳制品后出现症状，而非 CC 患者则较少出现（P<0.0001）。
结论
尽管 C/T-13910 和 G/A-22018 多态性在 IBS 和 HC 中相似，但在 D-IBS 中更为常见，并报告了一些症状，如腹痛、腹胀和食用乳制品后加重。
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