ライフサイエンスコーパス: Amish

1 1262C-->T mutation that causes GA1 among the Amish.

2 a genome-wide association scan (GWAS) in the Amish.

3 adiponectin levels to 3q27 in the Old Order Amish.

4 n nine separate sibships among the Old Order Amish.

5 als from a founder population, the Old Order Amish.

6 occurs with high frequency in the Old Order Amish.

7 nemaline myopathy common among the Old Order Amish.

8 th Lp(a)-cholesterol levels in the Old Order Amish.

9 found no carriers among the Ohio and Indiana Amish.

10 amilies from Kuwait, Italy and the Old Order Amish.

11 ound at high frequency amongst the Old Order Amish.

12 which will be of use in other studies of the Amish.

13 set of stroke in 14 individuals in Old Order Amish.

14 are involved in refractive variation in the AMISH.

15 y in both Native Americans and the Old Order Amish.

16 the SPG20 gene, which is also mutated in the Amish.

17 03125) and a Caucasian sample, the Old Order Amish (1.51, P = 0.004, for rs1103125 and 2.38, P = 0.00

18 In addition, all Amish AD-affected individuals had APOE 3/3 genotypes; no

19 to both CAC and CIMT among 478 asymptomatic Amish adults in Lancaster County, Pennsylvania.

20 and suggestive genetic linkage were found in Amish adults.

21 morphisms in MMP and TIMP genes in Old Order Amish (AMISH) and Ashkenazi Jewish (ASHK) families was i

22 Blood was collected from 30 Amish and 30 Hutterite age- and sex-matched children; ce

23 confirmed this association in an independent Amish and 4 non-Amish Caucasian samples including the Di

24 4 MMP and 4 TIMP genes were genotyped in 358 AMISH and 535 ASHK participants.

25 Individuals from 55 AMISH and 63 ASHK families participated in the study.

26 such as Puerto Ricans; settlers such as the Amish and Appalachians who experienced geographic or cul

27 e investigated T-cell phenotypes in the same Amish and Hutterite children as in our earlier study to

28 netic ancestry, and immune profiles among 60 Amish and Hutterite children, measuring levels of allerg

29 similar genetic ancestries and lifestyles of Amish and Hutterite children, the prevalence of asthma a

30 The effects of dust extracts obtained from Amish and Hutterite homes on immune and airway responses

31 tion were also observed in dust samples from Amish and Hutterite homes.

32 The Amish and Hutterites are U.S. agricultural populations w

33 A mutation in FIC1 recognized among the Amish and linkage of the disorder to FIC1 were excluded.

34 variants and phased haplotypes in people of Amish and Mennonite ancestry.

35 d studies of mental illnesses in traditional Amish and Mennonite communities--known collectively as t

36 at has been linked to type 2 diabetes in the Amish and several other populations.

37 tion (SPH) were performed separately for the AMISH and the ASHK.

38 ms in MMP and TIMP genes in Old Order Amish (AMISH) and Ashkenazi Jewish (ASHK) families was investig

39 ractive error (SD) was -1.61 (2.72) D in the AMISH, and -3.56 (3.32) D in the ASHK.

40 ncidence of approximately 1 in 500 among the Amish, and it is inherited in an autosomal recessive pat

41 we have found that about 5% of the Lancaster Amish are heterozygous carriers of a null mutation (R19X

42 cations for mental health services among the Amish, as well as development of drugs that specifically

43 lymorphisms originally typed in the previous Amish association study were extracted for analysis.

44 ransport was investigated in an 18-month-old Amish boy who presented with pruritus, poor growth, and

45 MMP1 and within MMP2 were identified in the AMISH but not among the ASHK families.

46 ntranasal instillation of dust extracts from Amish but not Hutterite homes significantly inhibited ai

47 ease in inhibitory receptors on monocytes in Amish, but not Hutterite, children.

48 from the Amish pedigree and a sporadic, non-Amish case.

49 ssociation in an independent Amish and 4 non-Amish Caucasian samples including the Diabetes Genetics

50 A single-center cohort of 11 Amish CFI Y459S homozygous patients identified 5 patient

51 While screening Old Order Amish children for glutaric aciduria type 1 (GA1) betwee

52 Strikingly, the Amish children had a higher proportion of CD28(null) CD8

53 Amish children raised on traditional farms have lower at

54 homozygous mutation of CNTNAP2 in Old Order Amish children with cortical dysplasia, focal epilepsy,

55 We then sequenced three non-Amish children with GA3 and discovered two nonsense muta

56 id composition of bile also differed: In the Amish children with PFIC-1 and in one ByS family, the pr

57 roscopy (TEM), liver tissue differed between Amish children with PFIC-1, who had coarsely granular bi

58 Amish children's blood leukocytes are not only altered i

59 8(null) CD8 T-cell numbers were increased in Amish children, with high expression of the innate genes

60 Efforts to prevent spread between Amish church districts with any feasible measures may of

61 jects with PCD from geographically dispersed Amish communities and performed exome sequencing of two

62 tion of LPVs and cases of paralytic polio in Amish communities if an importation occurred during or a

63 rus infections or paralytic poliomyelitis in Amish communities in Minnesota, neighboring states, and

64 mportations of live polioviruses (LPVs) into Amish communities in North America led to their recognit

65 no poliovirus infections were found in other Amish communities investigated.

66 , and assessing their transferability to non-Amish communities may produce significant gains to the p

67 easles was limited almost exclusively to the Amish community (accounting for 99% of case patients) an

68 with increased frequency among the Old Order Amish community in Lancaster County, Pennsylvania.

69 ologic features of a measles outbreak in the Amish community in Ohio were transmission primarily with

70 ants from 3 related nuclear families from an Amish community in the primary analysis and participants

71 (AGDB), which was created for the Old Order Amish community of Lancaster County, Pennsylvania.

72 sequencing on samples from families from the Amish community of Ohio, we have demonstrated that mutat

73 ected, and the large number of people in the Amish community who sought vaccination.

74 , especially if they belong to the Old Order Amish community.

75 mmunity, there was limited spread beyond the Amish community.

76 lowing a high-fat challenge, carriers in the Amish Complex Disease Research Program cohort exhibited

77 rom 3,556 study participants enrolled in the Amish Complex Disease Research Program.

78 e that the genetic defect causing EvC in the Amish confers protection from BPI.

79 ere used to test the deficit patterns in the Amish Connectome Project (ACP) with ReHo, structural, an

80 The frequency of the APOE-4 allele in the Amish controls was 0.037 +/- 0.02.

81 rates of hospital discharges than their non-Amish counterparts, despite the increased lifespan.We sp

82 A potent asthma-protective fraction of Amish cowshed DEs (~0.5% of the total carbon content of

83 ded size fractionation focused on protective Amish cowshed DEs.

84 ective and nonprotective farms (European and Amish cowsheds vs European sheep sheds) were analyzed by

85 Growing up on traditional European or US Amish dairy farms in close contact with cows and hay pro

86 children (ages 1.0 to 28 years) from diverse Amish demes.

87 We identified associations between an Amish-enriched missense variant (p.Asn352Ser) in a funct

88 n our previous study we established that the Amish environment affects the innate immune response to

89 studies in humans and mice indicate that the Amish environment provides protection against asthma by

90 As homozygous Amish EVC mutations causing EvC dwarfism do so by disrup

91 cans/volume; 3840 B-scans in total) from the Amish Eye Study cohort were included in this analysis.

92 ears) in 269 families were recruited for the Amish Eye Study in the Lancaster County area of Pennsylv

93 Of 1339 subjects enrolled in the Amish eye study, a total of 1294 eyes of 1294 subjects h

94 The 2 highest-ranking SNPs in Amish families (rs1939008 and rs9928731) showed pointwis

95 C and Bipolar I (BPI) cases in several large Amish families descending from the same pioneer.

96 A previous study of Old Order Amish families showed an association of ocular refractio

97 es in siblings with ByS in two unrelated non-Amish families showed that the gene(s) responsible for t

98 tern and has been observed only in Old Order Amish families whose ancestors lived in Lancaster County

99 2 and 4 with type 2 diabetes is reported in Amish families with linkage to chromosome 1q21-q24.

100 Clinical characterization of 2 non-Amish families with Troyer syndrome was followed by link

101 European ancestry and also in Pima Indians, Amish families, and families from France and England.

102 is, and the children with ByS in the two non-Amish families, who had amorphous or finely filamentous

103 and 551 women, aged 18-92 years, from large Amish families.

104 Artery Calcification) (N = 2,560) and AFCS (Amish Family Calcification Study) (N = 784) samples.

105 normal glucose tolerance (n = 342) from the Amish Family Diabetes Study (AFDS) to test for associati

106 OGTT) in 552 nondiabetic participants in the Amish Family Diabetes Study.

107 evels in 569 nondiabetic participants in the Amish Family Diabetes Study.

108 1 was identified in affected members of this Amish family in which both QTc prolongation and deafness

109 An Amish family with clinical evidence of JLNS was analyzed

110 homozygous KVLQT1 mutation causes JLNS in an Amish family with deafness that is inherited as an autos

111 Children exposed to Amish farms had increased activated regulatory CD4(+) T-

112 ults in a recessive nemaline myopathy in the Amish featured with lethal respiratory failure.

113 was previously thought to be private to the Amish founder population.

114 rospectively studied imaging results from 25 Amish GA1 patients homozygous for 1296C>T mutations in G

115 Hunter are illustrated by examples using the Amish Genealogy Database (AGDB), which was created for t

116 Hunter software query system was used on the Amish Genealogy Database to correct the previous pedigre

117 We studied injured and non-injured Amish glutaric aciduria type 1 patients using magnetic r

118 al molecular processes that are perturbed in Amish GMS patients.

119 Fourteen of 26 Amish had bipolar spectrum disorder.

120 he Amish, whereas median endotoxin levels in Amish house dust was 6.8 times as high.

121 gle dose was estimated to be 14% in affected Amish households and more than 88% in the general (non-A

122 ome had been thought to be restricted to the Amish; however, we identified 2 Omani families with HSP,

123 h optic atrophy, present among the Old Order Amish, identified a mutation of MTPAP associated with th

124 sent in homozygous form in patients from the Amish index kindred for severe ATP8B1 disease.

125 We show here that FHC in Amish individuals is associated with mutations in tight

126 The p.T224M variant, present in 1/45 Amish individuals is rare in the general population (1/2

127 reticular dysgenesis should be considered in Amish individuals presenting with immune deficiency.

128 equencing of C7orf10 revealed that the three Amish individuals were homozygous for a nonsynonymous se

129 ver, we did find significantly fewer DNMs in Amish individuals, even when compared with other Europea

130 ncing and agnostic ExWAS were performed 5521 Amish individuals.

131 pean origin but present in a large number of Amish individuals.

132 fied in September 2005, from an unvaccinated Amish infant hospitalized in Minnesota with severe combi

133 Despite early diagnosis, one-third of Amish infants with glutaryl-CoA dehydrogenase deficiency

134 bipolar affective disorder in the Old Order Amish is inherited as a complex trait.

135 loci for affective disorder in the Old Order Amish is reported.

136 similar disorder, but are not members of the Amish kindred in which ByD was described, are said to ha

137 Using autozygosity mapping in a large Amish kindred, we identified a linkage region on chromos

138 al IgE to 12q was also found in 12 Caucasian Amish kindreds (24 nuclear families) by both sib-pair an

139 SLC25A19 mutations cause Amish lethal microcephaly (MCPHA), which markedly retard

140 The Old Order Amish Lon variant (LONP1 c.2161C>G[p.Arg721Gly]) homo-ol

141 in GCD encoded by the A421V mutation in the Amish may be due to impaired association of enzyme subun

142 that the lower frequency of dementia in the Amish may be partially explained by the decreased freque

143 ched more than 4500-fold among the Old Order Amish (mean allelic frequency, 0.037), with 1 in every 7

144 easles that originated from two unvaccinated Amish men in whom measles was incubating at the time of

145 , consistent with our previous findings that Amish men lived as long as Amish women.

146 ery of a mutation in the THAP1 gene in three Amish-Mennonite families with mixed-onset primary torsio

147 dystonia; a founder mutation was detected in Amish-Mennonite families, and a different mutation was i

148 One family had the Amish-Mennonite founder mutation, whereas the other eigh

149 The disorder Amish microcephaly (MCPHA) is characterized by severe co

150 nd c.424C-->T, Arg142Ter) in addition to the Amish mutation.

151 of Native American (n = 3,723) and Old Order Amish (n = 486) subjects.

152 ped in two additional samples of Caucasians (Amish, n = 1,149, and German children case/control subje

153 ematurely terminated slow TnT polypeptide in Amish nemaline myopathy (ANM) patient muscle.

154 utation at codon Glu180 of TNNT1 gene causes Amish nemaline myopathy (ANM), a recessively inherited d

155 We conclude that Amish nemaline myopathy is a distinct, heritable, myopat

156 Amish nemaline myopathy is a form of nemaline myopathy c

157 A lethal form of nemaline myopathy, named "Amish Nemaline Myopathy" (ANM), is linked to a nonsense

158 of recessively inherited nemaline myopathy (Amish nemaline myopathy, ANM).

159 type (e.g. tremors accompanied by clonus) of Amish nemaline myopathy, as well as of other recessively

160 d in the pathogenesis and pathophysiology of Amish nemaline myopathy.

161 n data from a genetic study in the Old Order Amish of Lancaster County, Pennsylvania, a population is

162 le mutant allele causes GA1 in the Old Order Amish of Lancaster County, Pennsylvania.

163 condition in 11 individuals in the Old Order Amish of northeastern Ohio.

164 lastic dwarfism, is frequent among Old Order Amish of Pennsylvania.

165 eholds and more than 88% in the general (non-Amish) Ohio community.

166 performed in Caucasian (CAUC) and Old Order Amish (OOA) families to identify genomic regions contain

167 myopia and hyperopia in an elderly Old Order Amish (OOA) population.

168 , we have compared lifespan in the Old Order Amish (OOA), a population with historically low use of m

169 rders in a founder population, the Old Order Amish (OOA, n = 1,672).

170 stant cohorts from Tuscany and the Old Order Amish (overall p value = 1.9 x 10(-20)).

171 We genotyped the deletion in DNA from 2738 Amish participants and performed association analyses to

172 vironment Study genotyped rs76353203 in 1113 Amish participants from Ohio and Indiana and 19 613 part

173 nced 12 lipolytic-pathway genes in Old Order Amish participants whose fasting serum triglyceride leve

174 p.Ser208Pro], was identified in an Old Order Amish patient through whole exome sequencing.

175 t had two missense substitutions and the non-Amish patient was a compound heterozygote for a frameshi

176 The Old Order Amish patient was found to be homozygous for an allele t

177 clinical features remarkably similar to the Amish patients with Troyer syndrome.

178 on, MKKS, for analysis in a patient from the Amish pedigree and a sporadic, non-Amish case.

179 We identified a splice-donor change in an Amish pedigree and six truncating mutations and a single

180 We apply our method to an Old Order Amish pedigree from Lancaster, Pennsylvania, whose found

181 cterized CNVs in 388 members of an Old Order Amish Pedigree with bipolar disorder.

182 suming a founder effect in a large Old Order Amish pedigree, we carried out a genome-wide screen for

183 e for the EVC phenotype in nine interrelated Amish pedigrees and three unrelated families from Mexico

184 n of several large multigeneration Old Order Amish pedigrees exhibiting an extremely high incidence o

185 51R) was identified independently in Indiana Amish pedigrees with a milder form of LGMD.

186 y within households, the small proportion of Amish people affected, and the large number of people in

187 stered clopidogrel for 7 days to 429 healthy Amish persons and measured response by ex vivo platelet

188 nly approximately 1% of the estimated 32,630 Amish persons in the settlement.

189 s diagnosed most frequently in the Old Order Amish population and is inherited in an autosomal recess

190 so genotyped 53 individuals from the general Amish population as controls for the APOE allele frequen

191 with diabetes status and glycemia in a large Amish population enriched for the FH-associated APOB R35

192 influencing blood pressure in the Old Order Amish population of Lancaster County, Pennsylvania.

193 fect of APOE on AD in a previously unstudied Amish population that has a lower prevalence of dementia

194 MKKS has been mapped in the Old Order Amish population to 20p12, between D20S162 and D20S894.

195 etermine variant enrichment in the Old Order Amish population.

196 al atherosclerotic disease in a Pennsylvania Amish population.

197 ssion of a LPV throughout the North American Amish population.

198 CFI variant frequencies in Old Order Amish populations were determined using genomic database

199 to microbial environments (farm children and Amish populations) highlights its preventive potential.

200 to explain <5% of the variance of SPH in the AMISH sample.

201 NP] +2019; deletion allele frequency 0.30 in Amish) showed strong association with adiponectin levels

202 2312G > A; p.(Arg771Gln) carriers in a large Amish sibship with Tatton-Brown-Rahman syndrome (TBRS),

203 uct-we find that this region harbors a short Amish-specific copy number variation and the gene HYDIN.

204 maller but consistent effects across the non-Amish studies.

205 lleles with clinical diagnoses in the larger Amish Study of Major Affective Disorder (ASMAD) cohort,

206 ducted blinded psychiatric assessments of 26 Amish subjects (52 +/- 11 years) from four families with

207 lso genotyped these SNPs in nondiabetic, non-Amish subjects (n = 48), in whom intravenous glucose tol

208 nd diastolic blood pressure (SBP and DBP) in Amish subjects and found strong association signals with

209 3/1.3 mm Hg in SBP/DBP, respectively, in the Amish subjects and with smaller but consistent effects a

210 5, rs7903146, rs11196205, and rs12255372) in Amish subjects with type 2 diabetes (n = 137), impaired

211 ormative SNPs within CASQ1 were genotyped in Amish subjects with type 2 diabetes (n = 145), impaired

212 In an expanded set of 698 Amish subjects without diabetes, we found no association

213 erance test (OGTT) traits in 427 nondiabetic Amish subjects, and 2) in silico replication from three

214 sk factors were obtained in 614 asymptomatic Amish subjects.

215 sis of the family-based prospective study of Amish subjects.

216 isease was mapped to chromosome 4p16 in nine Amish subpedigrees and single pedigrees from Mexico, Ecu

217 from three different ancestral backgrounds (Amish-Swiss from United States, n = 8; Mennonite-German

218 ne cluster on chromosome 11q23 linked in the Amish to the APOC3 R19X null mutation.

219 In AMISH, two SNPs showed evidence of association with refr

220 SNP sites (identified in CEPH pedigrees from Amish, Venezuelan and Utah populations) from 23 common c

221 clinical phenotype appears frequently in the Amish, where virtually all affected individuals harbor h

222 ensitization was 4 and 6 times as low in the Amish, whereas median endotoxin levels in Amish house du

223 the number of C->A and T->C mutations in the Amish, which seem to underpin their overall reduction in

224 compared with three independent sets of non-Amish white controls (p < 2 x 10(-4), p < 6 x 10(-5), an

225 ous findings that Amish men lived as long as Amish women.