Displaying publications 1 - 20 of 25 in total

Abstract:
Sort:
  1. Tang MM, Thevarajah S
    Med J Malaysia, 2010 Jun;65(2):138-42.
    PMID: 23756799 MyJurnal
    Adult-onset dermatomyositis has been found to be associated with underlying malignancies in up to 40% of patients. The aims of this study were to determine the demographic profile, the underlying cancer and outcome in patients with dermatomyositis. This was a retrospective review of 38 patients with dermatomyositis seen over a 12-year period in the Department of Dermatology, Kuala Lumpur Hospital. Of these, 18 (47.4%) had an associated underlying malignancy. The male to female ratio was 2:1. Ten patients (55.6%) were Chinese. The youngest patient encountered was 32 years old. Nasopharyngeal carcinoma (61.1%) was the most common malignancy in our study population. Tumour markers were not useful as the initial screening for malignancies. Thorough screening for malignancy is imperative in adult dermatomyositis especially those above 40 years old.
  2. Kim HS, Tang MM
    Med J Malaysia, 2018 12;73(6):397-399.
    PMID: 30647211
    Cutaneous adverse drug reactions (cADR) are common. However, only very few audits reported the clinical characteristics of cADR captured at district hospitals. We performed a 4-year audit on cADR reported to the Department of Pharmacy in Hospital Pakar Sultanah Fatimah between May 2012 and March 2016. It showed that the main adverse drug reaction (ADR) reporters were pharmacists (84.9%) where the majority of the reactions were clinical descriptions without dermatological diagnosis. Antibiotics (46.4%) were the commonest culprit drug followed by NSAIDs (22%). The most common reactions were immediate reactions, i.e. urticaria and angioedema contributing 55.7% of the cases; followed by maculopapular eruptions (41.8%). There were only six cases (1%) of severe cADR reported in this cohort. Reporting bias and the incomplete dermatological diagnosis were the main limitation of the reports.
  3. Ramalingam R, Kunalan S, Tang MM
    Med J Malaysia, 2017 06;72(3):190-192.
    PMID: 28733568 MyJurnal
    Onychomycosis is a common nail disease with numerous etiological pathogens. In order to determine and trend the local mycological pattern of culture-positive diseased nail samples sent from the Department of Dermatology, Hospital Kuala Lumpur, a five-year retrospective audit was carried out, which revealed that non-dermatophyte molds were the predominant fungi isolated, followed by yeasts and dermatophytes. This is similar to two previous studies in Malaysia, but varies greatly from other studies around the world which showed a dermatophyte-predominant prevalence. This could be due to the nature of the environment our patients encountered.
  4. Tang MY, Tang IP, Wang CY
    Med J Malaysia, 2014 Aug;69(4):151-5.
    PMID: 25500841 MyJurnal
    AIM: This was a randomized single blinded study to determine optimal size for Ambu®LMA (ALMA) among Malaysian adult population.

    METHODS: One hundred and twenty six non-paralyzed anaesthetized adult patients were block randomized into size 3, 4 and 5 Ambu®LMA. Optimal size is defined primarily by oropharyngeal pressure (OLP). Pharyngeal injury and ease of insertion are also taken into consideration.

    RESULTS: Mean OLP was significantly higher for Size 4 and 5 compared to size 3 (p<0.001) but similar between size 4 and 5. Number of insertion attempts and insertion time were similar between sizes. Size 5 required more manipulations during insertion (p<0.005) and had higher pharyngeal injury (p=0.001) compared to size 3 and 4.

    DISCUSSION: We recommend size 4 ALMA as the optimal size for Malaysian adults in view of the higher OLP compared to size 3, yet less pharyngeal injury than size 5 in spontaneously breathing patients.
  5. Tang ML, Ching LS, Brito-Mutunayagam S, Revadi G
    Med J Malaysia, 2013 Dec;68(6):469-70.
    PMID: 24632915 MyJurnal
    A 19 year-old man was presented to us in a state of respiratory distress with history of alleged accidentally swallowed the live fish. Flexible nasopharyngolaryngoscope showed a big live fish impacted in the laryngopharynx. Attempts to remove the fish orally were futile as the fish was impacted. We resorted to tracheostomy under local anaesthesia, followed by direct laryngoscopy and removal of the fish under general anaesthesia. The literature review of such rare incidence and approach to such case are discussed.
  6. Tang MY, Cheong YM, Zainuldin T
    Med J Malaysia, 1994 Sep;49(3):217-22.
    PMID: 7845269
    From April 1992 to September 1992, 280 samples of 10 different fresh vegetables, bought from four different market outlets in Kuala Lumpur were examined for the presence of Listeria spp. Most of the market produce were locally grown with the exception of carrots. The isolation procedure was based on the Food & Drug Administration method (modified) used for the detection of Listeria spp. Isolation media used were Listeria Selective medium and LiCl- phenylethanol-Moxalactam agars. The identification of isolates was by means of conventional biochemical tests and API Listeria identification system. Five out of the 280 samples showed Listeria contamination, Listeria monocytogenes was isolated in lettuce, sengkuang (Pachyrrhizus erosus) and selom Oenanthe javanica) and Listeria innocua was isolated from sengkuang (Pachyrrhizus erosus) and pegaga (Hydrocotyle asiatica).
  7. How KN, Tang MM, Kaur R, Johar A
    Med J Malaysia, 2017 04;72(2):113-118.
    PMID: 28473674 MyJurnal
    BACKGROUND: The pattern of contact sensitisation should be monitored in order to detect the changing trend of sensitising allergens. We aim to evaluate contact sensitisation in adults suspected to have allergic contact dermatitis.

    METHODS: This is a five-year retrospective review on contact sensitisation in adults patch-tested with the European Standard and extended series between 2011 and 2015 in the Department of Dermatology, Hospital Kuala Lumpur.

    RESULTS: There were 689 adults (M:F= 1:2.04; mean age 40.5 years) who were patch-tested. The majority (175, 25.4%) were white collar workers and 118 (17.1%) were healthcare workers. The provisional diagnoses of patients included contact dermatitis (80.8%); endogenous eczema (7.9%); hand eczema (3.2%); hand and foot eczema (3.5%); foot eczema (1.4%) and photodermatitis (1.2%). The allergens selected for testing were based on past and present history of exposure. Almost all (688, 99.8%) were patch-tested with the European standard allergens and 466 (67.6%) were tested with the extended series. About three quarter (528, 76.6%) developed at least one positive reaction. The top five most frequent reactions were to nickel sulphate (35.3%); potassium dichromate (16.5%); methylchloroisothiazolinone (12.9%), fragrance mix I (12.6%), and cobalt chloride (10.2%). The commonest sensitisations identified in the extended series were palladium chloride (23/105, 21.9%), stannous chloride (18/85, 21.2%), miconazole (7/44, 15.9%), gold(I)sodium thiosulfate (16/105, 15.2%) and thimerosal (29/202, 14.4%).

    CONCLUSION: Contact sensitisation was detected in 76.6% of adults patch-tested. Nickel sulphate was found to be the most frequently sensitising allergen. The rising prevalence of methylchloroisothiazolinone/methylisothiazolinone sensitization poses significant concern.

  8. Lim YT, Robinson S, Tang MM, Malaysian Psoriasis Registry Working Group
    Clin Exp Dermatol, 2023 Jan 12.
    PMID: 36632801 DOI: 10.1093/ced/llad013
    BACKGROUND: Therapeutic options for psoriasis may be limited for patients with concomitant liver disease.

    OBJECTIVE: We aim to report the frequency of liver disease among psoriasis patients, describe the clinical features, treatment modalities and quality of life.

    METHODS: This was a multi-center cross-sectional study of psoriasis patients notified to the Malaysian Psoriasis Registry (MPR) from January 2007 to December 2018.

    RESULTS: Of 21,735 psoriasis patients, 174 (0.8%) had liver disease. The three most common liver diseases were viral hepatitis (62.1%), fatty liver (14.4%) and liver cirrhosis (10.9%). The male-to-female ratio was 3.8:1. Mean age of onset of psoriasis was higher in those with liver disease compared to those without (37.25 ± 13.47 years vs 33.26 ± 16.96 years, p  10% and/or DLQI > 10) (59.3%vs49.9%, p = 0.027), psoriatic arthropathy (21.1%vs13.0%, p = 0.002), and nail involvement (78.2%vs56.1%, p 

  9. Tai V, Sharifah Rosniza SNC, Tang MM
    Med J Malaysia, 2023 Sep;78(5):583-588.
    PMID: 37775483
    INTRODUCTION: Fragrance allergy remains an important cause of contact dermatitis. We aim to describe the characteristics of patients with contact sensitisation to fragrances who underwent patch testing in the Department of Dermatology Hospital Kuala Lumpur.

    MATERIALS AND METHODS: This is a 5-year retrospective study of patients who developed positive reactions to fragrance allergens at the Department of Dermatology, Hospital Kuala Lumpur, Malaysia between January 2017 and December 2021. Patch tests were performed with European Baseline Series and relevant extended series. Patch test readings were recorded according to the International Contact Dermatitis Research Group recommendation.

    RESULTS: A total of 854 patients underwent patch test during the study period with 133 (15.6%) patients developing at least one positive reaction to fragrance allergens. The median age of patients at presentation was 40 years (range 16-79) old with 78.2% females. The most common initial presentation was hand eczema (55.6%). Other commonly involved sites include face (38.3%), leg (35.3%) and trunk (22.6%). The most frequent sensitising fragrance allergens were Fragrance Mix I (10.5%), Balsam of Peru (7.1%) and Fragrance Mix II (4.9%). Sixty patients (45%) developed positive reaction to more than one fragrance allergens. Twelve patients (9%) developed positive patch test reactions to their own products such as skincare, hair dye and hand wash. Current relevance was recorded in 96 patients (72.2 %).

    CONCLUSION: Contact sensitisation to fragrance allergens was detected in about 15% of our patients who underwent patch test. The most common sensitising allergens were Fragrance Mix I and II and Balsam of Peru.

  10. Lai JY, Tang MM, Priya G, Rajasuriar JS, Suganthi T
    Med J Malaysia, 2014 Apr;69(2):95-7.
    PMID: 25241821
    Langerhans Cell Histiocytosis (LCH) is an uncommon neoplastic disorder characterized by accumulation of histiocytes in various tissues. The clinical manifestation is highly variable, ranging from an isolated skin rash or a single bony lesion, to fatal multi-organ failure. Due to its rarity and systemic involvement, the epidemiology of LCH is still not fully understood and most studies focus on the paediatric population. The extent of clinical involvement has important prognostic implications. Treatment options may be local or systemic depending on disease extent. Here we describe a rare case of adult onset LCH who presented with recurrent pneumothoraces, diabetes insipidus and papules and plaques over the scalp and forehead.
  11. Tang ML, Lee SC, Phoon MP
    Med J Malaysia, 2011 Dec;66(5):501-3.
    PMID: 22390112
    A 10 year-old Iban girl presented with severe odynophagia for 4 days and subcutaneous emphysema. Clinically, her neck was tender with crepitus. Lateral neck radiograph showed multiple linear radiolucent shadows at retropharyngeal space. Flexible nasopharyngolaryngoscope revealed a tunnel behind upper oesophagus with slough and there was pooling of saliva at pyriform sinus. Feeding via nasogastric tube was started and empirical treatment for fungal and bacterial infection was commenced. Subsequent computed tomography of neck and thorax showed a 15-long blind tract at subglottic region posterior to oesophagus (prevertebral region), extending to superior mediastinum just before carina at T3/T4 level, represent abscess. Hourly suctioning of the remaining abscess in the blind tract with 10ml-syringe was done.
  12. Leecyous B, Bakhtiar F, Tang MM, Yadzir ZHM, Abdullah N
    Allergol Immunopathol (Madr), 2020 06 09;48(6):626-632.
    PMID: 32532468 DOI: 10.1016/j.aller.2020.01.006
    INTRODUCTION: Basophil activation test (BAT) and immunoassays are the most widely used in vitro tests to diagnose IgE-mediated allergic reactions to penicillin. However, studies to determine if one test is interdependent from another are limited.

    OBJECTIVE: The present study aimed to measure the agreement between BAT and immunoassay in diagnosis of penicillin allergy.

    METHOD: BAT was performed using penicillin G (Pen G), penicillin V (Pen V), penicilloyl-polylysine (PPL), minor determinant mix (MDM), amoxicillin (Amx) and ampicillin (Amp) in 25 patients. Immunoassay of total IgE (tIgE) and specific IgE (sIgE) antibodies to Pen G, Pen V, Amx and Amp were quantified. Skin prick test (SPT) using PPL-MDM, Amx, Amp and Clavulanic acid were also performed.

    RESULTS: Minimal agreement was observed between BAT and immunoassay (k=0.25). Of two BAT-positive patients, one patient is positive to Amx (59.27%, SI=59) and Amp (82.32%, SI=82) but sIgE-negative to all drug tested. This patient is also SPT-positive to both drugs. Another patient is BAT-positive to Pen G (10.18%, SI=40), Pen V (25.07%, SI=100) and Amp (19.52%, SI=79). In sIgE immunoassay, four patients were sIgE-positive to at least one of the drugs tested. The sIgE level of three patients was between low and moderate and they were BAT-negative. One BAT-positive patient had a high level of sIgE antibodies (3.50-17.5kU/L) along with relatively high specific to total IgE ratio ≥0.002 (0.004-0.007).

    CONCLUSIONS: The agreement between BAT and immunoassay is minimal. Performing both tests provides little increase in the sensitivity of allergy diagnosis work-up for immediate reactions to penicillin.

  13. Vaani VV, Tang MM, Tan LL, Asmah J
    Med J Malaysia, 2018 06;73(3):125-130.
    PMID: 29962494 MyJurnal
    INTRODUCTION: Ultraviolet phototherapies are important treatment modalities for a wide range of dermatological conditions. We aim to describe the utilization of phototherapy in the Department of Dermatology Hospital Kuala Lumpur.

    METHODS: This is a 5-year retrospective audit on patients who underwent phototherapy between 2011 and 2015.

    RESULTS: There were 892 patients, M:F=1.08:1, aged from 4- 88 years, with a median age of 38.8 years who underwent phototherapy. Majority (58.9%) had skin phototype IV, followed by type III (37.7%) and type II (0.7%). There were 697(78.1%) who underwent NBUVB, 136 (15.2%) had topical PUVA, 22(2.5%) had oral PUVA, 12(1.4%) had UVA1 and 23(2.6%) had NBUVB with topical or oral PUVA/UVA1 at different time periods. The indications were psoriasis (46.6%), vitiligo (26.7%), atopic eczema (9.8%), pityriasis lichenoides chronica (5.3%), mycosis fungoides (3.9%), lichen planus (2.5%), nodular prurigo (2.2%), scleroderma (1.2%), alopecia areata (0.7%) and others. The median number of session received were 27 (range 1-252) for NBUVB, 30 (range 1-330) for topical PUVA, 30 (range 3-190) for oral PUVA and 24.5 (range 2-161) for UVA1. The acute adverse effects experienced by patients were erythema (18%), pruritus (16.3%), warmth (3.3%), blister formation (3.1%), cutaneous pain (2.4%), and xerosis (0.8%), skin swelling (0.7%) and phototoxicity (0.2%).

    CONCLUSION: Narrow-band UVB was the most frequently prescribed phototherapy modality in our center. The most common indication for phototherapy in our setting was psoriasis. Acute adverse events occurred in a third of patients, although these side effects were mild.

  14. Zhong W, Tang M, Xie Y, Huang X, Liu Y
    Foodborne Pathog Dis, 2023 Jul;20(7):294-302.
    PMID: 37347934 DOI: 10.1089/fpd.2022.0085
    Staphylococcus aureus can cause bacterial food intoxication and seriously affect human health. Tea polyphenols (TP) are a kind of natural, safe, and broad-spectrum bacteriostatic substances, with a wide range of bacteriostatic effects. In the study, we explored the possible bacteriostatic mode of TP. The minimum inhibitory concentration of TP against S. aureus was 64 μg/mL. Protein, DNA, and K+ leak experiments, fluorescence microscopy, and transmission electron microscopy suggested that TP disrupt cell membranes, leading to intracellular component loss. By studying the effect of TP on the toxicity of S. aureus, it was found that the expression levels of two toxin genes, coa and spa, were downregulated by 2.37 and 32.6, respectively. Furthermore, after treatment with TP, a large number of reactive oxygen species (ROS) were propagated and released, leading to oxidative stress in cells. We speculated that the bacteriostatic mechanism of TP may be through the destruction of the cell membrane and ROS-mediated oxidative stress. Meanwhile, the hemolysis activity proved the safety of TP. Our results suggested that TP may be a potential antimicrobial agent for food.
  15. Tang IP, Freeman SR, Kontorinis G, Tang MY, Rutherford SA, King AT, et al.
    J Laryngol Otol, 2014 May;128(5):394-9.
    PMID: 24819337 DOI: 10.1017/S0022215114000802
    To systematically summarise the peer-reviewed literature relating to the aetiology, clinical presentation, investigation and treatment of geniculate neuralgia.
  16. Ng LC, Lee CS, Lim BB, Mohd Tap R, Tan XT, Tang MM
    Med J Malaysia, 2023 May;78(3):364-371.
    PMID: 37271847
    INTRODUCTION: Dermatomycoses are common superficial cutaneous fungal infections which affect the skin, nails and human hairs. It affects 20 to 25% of the world population. The causative fungus varies geographically across the globe. Study on dermatomycoses is crucial to identify the aetiological fungus involved locally. The study aimed to determine the causative fungus of superficial fungal infections of the skin, nail and hair in patients presented to Hospital Melaka.

    METHODS: This was a prospective study conducted from 15th January 2022 till 15th October 2022 at Dermatology Clinic, Hospital Melaka. Subjects with clinical dermatomycoses were included in this study. The samples were collected from skin, nails and hairs clinically affected by tinea corporis/cruris/pedis, onychomycosis and tinea capitis respectively. A potassium hydroxide (KOH) study was performed on the sample in which the fungal hyphae/yeast positive subjects were sent for fungal culture and fungal PCR test.

    RESULT: A total of 222 clinical samples from skin, nails and hairs with a clinical suspicion of dermatomycoses yielded fungal hyphae/yeast in KOH. Majority of the samples were collected from skin (138, 62.2%), followed by nails (65, 29.3%) and hairs (19, 8.6%). Male to female ratio was 1.18: 1. The age ranged from 2 to 87 with the median of 55.5-yearsold. Out of 222 samples, 150 (67.6%) were fungal culture positive. From fungal culture positive samples, 87 samples were from tinea corporis, 50 samples were from onychomycoses and 13 samples were from tinea capitis. Trichophyton rubrum (39, 44.8%) was the commonest dermatophyte isolated in tinea corporis/cruris/pedis. Nondermatophyte moulds (NDM, 35, 70%) were the main fungi isolated in onychomycosis. Microsporum canis (7/53.8%) was the principal causative fungus among patients with tinea capitis. Among 150 fungal culture positive samples, 76 were fungal PCR positive. Only 38 samples consistently isolated same fungal species in both fungal culture and PCR test.

    CONCLUSION: Majority of tinea corporis and tinea capitis fungal culture isolated dermatophytes, especially Trichophyton rubrum and Microsporum canis, respectively. Non-dermatophyte moulds were mainly isolated in onychomycosis.

  17. Ashley SE, Tan HT, Peters R, Allen KJ, Vuillermin P, Dharmage SC, et al.
    Clin Exp Allergy, 2017 Aug;47(8):1032-1037.
    PMID: 28544327 DOI: 10.1111/cea.12942
    BACKGROUND: Food allergies pose a considerable world-wide public health burden with incidence as high as one in ten in 12-month-old infants. Few food allergy genetic risk variants have yet been identified. The Th2 immune gene IL13 is a highly plausible genetic candidate as it is central to the initiation of IgE class switching in B cells.

    OBJECTIVE: Here, we sought to investigate whether genetic polymorphisms at IL13 are associated with the development of challenge-proven IgE-mediated food allergy.

    METHOD: We genotyped nine IL13 "tag" single nucleotide polymorphisms (tag SNPs) in 367 challenge-proven food allergic cases, 199 food-sensitized tolerant cases and 156 non-food allergic controls from the HealthNuts study. 12-month-old infants were phenotyped using open oral food challenges. SNPs were tested using Cochran-Mantel-Haenszel test adjusted for ancestry strata. A replication study was conducted in an independent, co-located sample of four paediatric cohorts consisting of 203 food allergic cases and 330 non-food allergic controls. Replication sample phenotypes were defined by clinical history of reactivity, 95% PPV or challenge, and IL13 genotyping was performed.

    RESULTS: IL13 rs1295686 was associated with challenge-proven food allergy in the discovery sample (P=.003; OR=1.75; CI=1.20-2.53). This association was also detected in the replication sample (P=.03, OR=1.37, CI=1.03-1.82) and further supported by a meta-analysis (P=.0006, OR=1.50). However, we cannot rule out an association with food sensitization. Carriage of the rs1295686 variant A allele was also associated with elevated total plasma IgE.

    CONCLUSIONS AND CLINICAL RELAVANCE: We show for the first time, in two independent cohorts, that IL13 polymorphism rs1295686 (in complete linkage disequilibrium with functional variant rs20541) is associated with challenge-proven food allergy.

  18. Scott KP, Grimaldi R, Cunningham M, Sarbini SR, Wijeyesekera A, Tang MLK, et al.
    J Appl Microbiol, 2020 Apr;128(4):934-949.
    PMID: 31446668 DOI: 10.1111/jam.14424
    AIMS: The concept of using specific dietary components to selectively modulate the gut microbiota to confer a health benefit, defined as prebiotics, originated in 1995. In 2018, a group of scientists met at the International Scientific Association for Probiotics and Prebiotics annual meeting in Singapore to discuss advances in the prebiotic field, focussing on issues affecting functionality, research methodology and geographical differences.

    METHODS AND RESULTS: The discussion ranged from examining scientific literature supporting the efficacy of established prebiotics, to the prospects for establishing health benefits associated with novel compounds, isolated from different sources.

    CONCLUSIONS: While many promising candidate prebiotics from across the globe have been highlighted in preliminary research, there are a limited number with both demonstrated mechanism of action and defined health benefits as required to meet the prebiotic definition. Prebiotics are part of a food industry with increasing market sales, yet there are great disparities in regulations in different countries. Identification and commercialization of new prebiotics with unique health benefits means that regulation must improve and remain up-to-date so as not to risk stifling research with potential health benefits for humans and other animals.

    SIGNIFICANCE AND IMPACT OF STUDY: This summary of the workshop discussions indicates potential avenues for expanding the range of prebiotic substrates, delivery methods to enhance health benefits for the end consumer and guidance to better elucidate their activities in human studies.

  19. Ong SY, Tang MM, Dalawi I, Tan WC, Yeoh CA, Kho WM, et al.
    Med J Malaysia, 2020 07;75(4):349-355.
    PMID: 32723993
    OBJECTIVES: High rates of syphilis have been reported worldwide among men who have sex with men (MSM). This study aims to describe the clinical pattern and treatment response of syphilis among human immunodeficiency virus (HIV)-infected MSM in Malaysia.

    METHODS: This is a retrospective study on all HIV-infected MSM with syphilis between 2011 and 2015. Data was collected from case notes in five centres namely Hospital Kuala Lumpur, Hospital Sultanah Bahiyah, Hospital Umum Sarawak, University of Malaya Medical Centre and Hospital Sungai Buloh.

    RESULTS: A total of 294 HIV seropositive MSM with the median age of 29 years (range 16-66) were confirmed to have syphilis. Nearly half (47.6%) were in the age group of 20-29 years. About a quarter (24.1%) was previously infected with syphilis. Eighty-three patients (28.2%) had other concomitant sexually transmitted infection with genital warts being the most frequently reported (17%). The number of patients with early and late syphilis in our cohort were almost equal. The median pre-treatment non-treponemal antibody titre (VDRL or RPR) for early syphilis (1:64) was significantly higher than for late syphilis (1:8) (p<0.0001). The median CD4 count and the number of patients with CD4 <200/μl in early syphilis were comparable to late syphilis. Nearly four-fifth (78.9%) received benzathine-penicillin only, 5.8% doxycycline, 1.4% Cpenicillin, 1% procaine penicillin, and 12.4% a combination of the above medications. About 44% received treatment and were lost to follow-up. Among those who completed 1 -year follow-up after treatment, 72.3% responded to treatment (serological non-reactive - 18.2%, four-fold drop in titre - 10.9%; serofast - 43.6%), 8.5% failed treatment and 17% had re-infection. Excluding those who were re-infected, lost to follow-up and died, the rates of treatment failure were 12.1% and 8.8% for early and late syphilis respectively (p=0.582).

    CONCLUSION: The most common stage of syphilis among MSM with HIV was latent syphilis. Overall, about 8.5% failed treatment at 1-year follow-up.

  20. Ashley SE, Tan HT, Vuillermin P, Dharmage SC, Tang MLK, Koplin J, et al.
    Allergy, 2017 Sep;72(9):1356-1364.
    PMID: 28213955 DOI: 10.1111/all.13143
    BACKGROUND: A defective skin barrier is hypothesized to be an important route of sensitization to dietary antigens and may lead to food allergy in some children. Missense mutations in the serine peptidase inhibitor Kazal type 5 (SPINK5) skin barrier gene have previously been associated with allergic conditions.

    OBJECTIVE: To determine whether genetic variants in and around SPINK5 are associated with IgE-mediated food allergy.

    METHOD: We genotyped 71 "tag" single nucleotide polymorphisms (tag-SNPs) within a region spanning ~263 kb including SPINK5 (~61 kb) in n=722 (n=367 food-allergic, n=199 food-sensitized-tolerant and n=156 non-food-allergic controls) 12-month-old infants (discovery sample) phenotyped for food allergy with the gold standard oral food challenge. Transepidermal water loss (TEWL) measures were collected at 12 months from a subset (n=150) of these individuals. SNPs were tested for association with food allergy using the Cochran-Mantel-Haenszel test adjusting for ancestry strata. Association analyses were replicated in an independent sample group derived from four paediatric cohorts, total n=533 (n=203 food-allergic, n=330 non-food-allergic), mean age 2.5 years, with food allergy defined by either clinical history of reactivity, 95% positive predictive value (PPV) or challenge, corrected for ancestry by principal components.

    RESULTS: SPINK5 variant rs9325071 (A⟶G) was associated with challenge-proven food allergy in the discovery sample (P=.001, OR=2.95, CI=1.49-5.83). This association was further supported by replication (P=.007, OR=1.58, CI=1.13-2.20) and by meta-analysis (P=.0004, OR=1.65). Variant rs9325071 is associated with decreased SPINK5 gene expression in the skin in publicly available genotype-tissue expression data, and we generated preliminary evidence for association of this SNP with elevated TEWL also.

    CONCLUSIONS: We report, for the first time, association between SPINK5 variant rs9325071 and challenge-proven IgE-mediated food allergy.

Related Terms
Filters
Contact Us

Please provide feedback to Administrator (afdal@afpm.org.my)

External Links